Podcasts about cancer genetics

In this episode we are exploring two publications related to cancer care. In our first segment we talk to 2 authors about their research on genetic counselors and identification of patients for high-risk pancreatic cancer screening. In our second segment, Khalida interviews a genetic counselor about their study to evaluate surgical patient perspectives of genetic testing provided by a non-genetics professional.  Segment 1: “Practices and perspectives of genetic counselors about high-risk pancreatic cancer screening: A cross-sectional survey study” Amy Wiegand is a board-certified genetic counselor who specializes in cancer genetics. She graduated with her Master's in Genetic Counseling in 2017 from from the Icahn School of Medicine at Mount Sinai and has worked as a cancer genetic counselor at the Smilow Cancer Genetics and Prevention Program at Yale-New Haven Health since 2017 where she has seen over 2500 patients for a variety of hereditary cancer indications. Her research interests include hereditary pancreatic cancer and alternative delivery care models for genetic testing. Aparna is a senior genetic counseling assistant (GCA) at Smilow Cancer Genetics and Prevention Program at Yale New Haven Health where she has worked since 2019, and she has over 6 years of experience as a GCA. She holds a Master's degree in Biomedical Genetics and a Bachelor's degree in Biotechnology. She also has a varied background in administration, finance and customer service. She is a high-performing individual and was recently recognized by her colleagues as ‘Employee of the Quarter' and honored by the organization as ‘Smilow Star' for consistently going above and beyond for the patients and the co-workers and for exemplifying the health system's values. She contributes to the program in a variety of other ways outside of her role and works collaboratively with the team to create a patient centered environment. She has a strong interest in Cancer Genetics and is passionate about research. She is currently working on another research project, the abstract of which was selected for presentation in a Poster Session at 2025 ASCO (American Society of Clinical Oncology) annual meeting. She enjoys being part of a collaborative and dynamic team at Smilow Cancer Genetics and Prevention program and is excited about the upcoming research initiatives in the program. In this segment we discuss: - The significance of pancreatic cancer surveillance for high-risk individuals and why early detection plays a critical role in improving outcomes. - How genetic counselors are uniquely positioned to identify and refer individuals at high risk for pancreatic cancer, emphasizing their role in screening efforts. - An overview of the 2019 CAPS (Cancer of the Pancreas Screening) consensus guidelines and how they are applied to identify high-risk individuals for surveillance - The finding that nearly 70% of genetic counselors accurately identified individuals eligible for screening and discussed the factors that may have contributed to this high rate. - The association between provider comfort level and accuracy in identifying high-risk individuals, and discussed strategies to improve provider confidence and access to screening programs.   Segment 2: “Patient experiences of cancer genetic testing by non-genetics providers in the surgical setting” Katie Fiallos is a board-certified genetic counselor who earned her Master of Science in Genetic Counseling from the Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training program in 2017 and worked for seven years as a cancer genetic counselor at Johns Hopkins. She joined the Department of Medical and Molecular Genetics at Indiana University in August 2024. She is fluent in Spanish and provides genetic counseling in English and Spanish to participants with Parkinson's disease enrolled in the PD GENEration study. She has authored several academic papers related to genetic counseling, and her current research interests include provision of genetic counseling to Latine individuals, alternate service delivery models, and patient experiences with genetic testing and their informational desires. She lives in Michigan with her family and enjoys staying active, particularly practicing aerial silks. The research for the paper we're discussing was done while she was at Johns Hopkins and was funded by the Jennifer L. Brager Memorial Research award through the Johns Hopkins Kimmel Cancer Center.   In this segment we discuss: - Why hereditary cancer genetic testing is becoming increasingly important for patients with breast cancer, especially in relation to surgical decision-making. - The findings that patients preferred genetic testing at an existing appointment shortly after diagnosis, and explored how this timing affects their overall experience. - How many patients had already considered or wanted genetic testing before it was offered, shedding light on patient awareness and readiness. - Why patients were primarily motivated by concern for relatives and a desire for complete information, rather than surgical decision-making. - Gaps in patient-provider communication identified in the study and suggested ways for providers to address these issues in clinical practice.   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.  DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

If you've ever wondered how your family history may influence your health outcomes, this episode is for you. Join Amanda Wilde and Alexandrea Wadley as they explore the significance of hereditary cancer genes and the criteria for genetic testing. Learn about the benefits of early detection and personalized screening that could save lives.

Jennifer Knowles, CNP, board-certified Nurse Practitioner at the Cancer Care Institute in Rapid City, discusses the growing field of cancer genetics with host, Mark Houston. Jennifer gives her insights on genetic cancer testing and how it helps with early detection and prevention of hereditary cancers. She also explains genetic counseling and why it is important to take a proactive role in understanding your cancer risks and the available prevention and treatment options. To learn more about Cancer Genetics and Testing, please visit: monument.health/cancergenetics Hosted on Acast. See acast.com/privacy for more information.

ReferencesFront. Genet 2015. 11 March Sec. Cancer Genetics . Volume 6 -Nature Reviews Genetics 2019. volume 20:657–674.Journal of Neurochemistry. 2019.151, Issue: 6:676-688Hypertension. 2018. Volume 72, Number 3Journal of Neuroinflammation 2020. 17,Article number: 15 Tartini, G. 1739-1741. Various Violin Concertihttps://open.spotify.com/album/3l2hknOjPdgD3WNxqPoGrF?si=bOmGO0nbRtWpfMJ2qtUtawLennon/McCartney 1966. "For No One" on Revolver (lp)https://open.spotify.com/track/1kDkaFlmkdEZiVUogaP9OZ?si=82292716f8f642eb

Genetic testing can be both illuminating and intimidating. What exactly is genetic testing, and who might benefit most? We spoke with Huma Q. Rana MD, MPH, Clinical Director of the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute and assistant professor of medicine at Harvard Medical School, about the impacts of genetic insights, breaking down the process, addressing logistical hurdles, like gathering your family history, and the range of possible test outcomes positive and what each might mean for your health and the health of your loved ones.

In this episode, Dr. Mark Cripe and I are joined by Dr. Kevin Hughes, the Director of Cancer Genetics at the Hollings Cancer Center and the McKoy Rose, Jr., M.D. Endowed Chair in Surgical Oncology in the College of Medicine at MUSC. Dr Hughes is recognized nationally and internationally for his expertise in breast cancer, breast disease management, genetic testing and the identification and management of patients with hereditary breast cancer risk.  His research focuses on developing tools that make cancer genetic testing simple, safe, and efficient.https://hollingscancercenter.musc.edu/patient-care/genetic-counseling-and-hereditary-cancer/hereditary-cancer-clinichttps://web.musc.edu/inourdnascYou will learn:1.    What is the definition of “High Risk”? 2.    What are some risk factors for high risk? 3.    Discuss the different risk calculators? Will AI replace these models? 4.    How do you counsel woman at high risk?   5.    Understanding many obstacles in seeing and counseling patients (socioeconomic, access to quality care, etc) do you think that we can use AI to help us?6.    How does having a high risk (Hereditary cancer clinic) like the one you have benefit hospital systems? 7.    Million-dollar question? Will AI replace physicians and surgeonsJ? Stay Connected with Dr. Deepa Halaharvi:TikTok: @breastdoctorInstagram: @drdhalaharviTBCP Instagram: @thebreastcancerpodcastWebsite: https://drdeepahalaharvi.com/YouTube: https://www.youtube.com/@deepahalaharvi5917Instagram: @thebreastcancerpodcast

This week on The Genetics Podcast, Patrick is joined by Versha Pleasant, Clinical Assistant Professor in the Department of Obstetrics and Gynecology, University of Michigan and Director of the Cancer Genetics and Breast Health Clinic at Von Voigtlander Women's Hospital. They discuss ongoing disparities in healthcare, in particular why black women in the US have a 40% higher chance of dying from breast cancer than white women, the impact of the US Educate Act on equality, diversity and inclusion education, and much more. 00:00:00 – Intro to The Genetics Podcast 00:01:52 – Welcome to Versha 00:03:22 – How black women have a 40% higher chance of mortality from breast cancer than white women, and the biggest drivers of this disparity 00:07:09 – Multifaceted approaches to addressing disparities 00:09:10 – Racial health duplicity and increasing access to genetic testing and mammography for black women 00:13:51 – The challenges of using precision medicine to stratify risk in black communities and historical harms in US medical research 00:14:29 – How to design for inclusive studies that effectively represent communities of colour 00:16:13 – Considering universal genetic testing and counseling for black women 00:21:24 – The logistics of making universal testing a reality, and the importance of community education and trust building 00:27:18 – What Versha is focused on next and the big topics she wants to tackle 00:33:24 – The role of community education and diversifying modes of communication for knowledge sharing 00:34:36 – Versha's perspectives on the US Educate Act and the impact it could have on what doctors of the future are taught 00:40:52 – Versha's advice to people who would like to pursue a similar career in medicine 00:43:28 – Where Patrick sees genetics evolving in the next ten years and his vision for the future of The Genetics Podcast 00:47:39 – Closing remarks Find out more Universal Genetic Counseling and Testing for Black Women: A Risk-Stratified Approach to Addressing Breast Cancer Disparities: https://www.clinical-breast-cancer.com/article/S1526-8209(24)00338-0/fulltext  Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link 

licia Schollmeyer is a nurse practitioner in genetics. She talks about misconceptions with genetics and ways to stay on top of knowing your risks for hereditary cancers.

Joining us on Well Said is Dr. Jeff Boyd, Director and Professor of the Institute of Cancer Research at the Feinstein Institutes for Medical Research and Vice President, Chief Scientific Officer, and Director of the Center for Genomic Medicine at the Northwell Health Cancer Institute to talk about the basics of cancer, the role of […]

In this episode, we explore findings from a groundbreaking study recently published in Nature which revealed potential targets for bowel cancer prevention and treatment. The study provides the most detailed understanding yet of bowel cancer's genetic makeup. The research, which used data from the 100,000 Genomes Project identified over 250 genes that play a crucial role in the condition, driver genes and potential drug targets. Our guests discuss the potential impact of these findings on patient outcomes, screening for bowel cancer, and future prevention strategies. Helen White, Participant Panel Vice-Chair for Cancer at Genomics England is joined by Professor Ian Tomlinson, Professor of Cancer Genetics at the University of Oxford, Claire Coughlan, Clinical Lead for Bowel Cancer UK and consultant nurse in colorectal cancer, and Dr David Church, a clinical scientist fellow and a medical doctor specialising in oncology at Oxford University. "The people that were kind enough to donate samples to the 100,000 Genomes Project, they did so knowing that they almost certainly wouldn't benefit personally from their donation from their gift and that any benefits would be some way down the line and hopefully benefit others which is what we're seeking to realise now. But, you know, it's not a given when we treat people in the clinic so we're very, very grateful to those individuals." You can read more about the study in our colorectal cancer blog and our study findings news story. You can download the transcript or read it below. Helen: Welcome to Behind the Genes. Ian: One of the great hopes is that some of these new genes that we've found could be useful in preventing cancer and it doesn't necessarily matter that they're rare, even if they're only 1% of cancers, by using those and changing those in the normal individual before they have had cancer then we may be able to reduce that risk. So, there are lots of potential new targets for prevention that are coming through.  My name is Helen White and I'm the Participant Panel Vice-Chair for Cancer at Genomics England. Today I'm delighted to be joined by Professor Ian Tomlinson, Professor of Cancer Genetics at the University of Oxford, Claire Coughlan, Clinical Lead for Bowel Cancer UK and consultant nurse in colorectal cancer, and Dr David Church, a clinical scientist fellow and a medical doctor specialising in oncology at Oxford University.   Today we will be discussing a pioneering colorectal cancer study which using data from the 100,000 Genomes Project has uncovered new insights that could transform diagnosis and treatment for patients with bowel cancer. If you enjoyed today's episode we would love your support, please like, share and rate us on wherever you listen to your podcast.  Thank you for joining me today. We're going to be discussing the findings from a landmark study that has been published in nature. This study used data generously donated by people with bowel cancer who took part in the 100,000 Genomes Project giving us the most detailed look yet at the genetic makeup of colorectal cancer better known as bowel cancer. But before we get into that let's start by hearing from my guests. Could each of you please introduce yourselves.  Ian: I'm Ian Tomlinson, I work at the University of Oxford and most of my work is research into bowel cancer, it's genetic causes, the genes that are involved in actually causing the cancer to grow which may be different from genetic causes and also the use of that data to help patients whether guiding future treatments or potentially helping to prevent bowel cancer which would obviously be our optimum strategy to have the biggest impact on the disease and its incidents.   Claire: So, I'm Claire Coughlan, I'm the clinical lead for Bowel Cancer UK and my remit at the charity is to ensure that everything we do is clinically relevant and that we're providing services that meet the needs of those affected by bowel cancer and the educational needs of those health professionals that work with people affected by bowel cancer. I'm also a nurse consultant in colorectal cancer at Lewisham and Greenwich NHS Trust and I lead an urgent referral service there and also work with patients with late effects of bowel cancer.  David: I'm David Church, I'm a medical oncologist and Cancer Research UK advanced clinician scientist at the University of Oxford. I treat bowel cancer clinically and do research on bowel cancer and womb cancer including a lot of research using samples and data from Genomics England data service we're discussing today of course.  Helen: Great, thank you. Now let's turn to Claire to learn more about bowel cancer. Claire, can you share with us how common it is, how treatable it is and if there are any trends in terms of which groups of people are affected?  Claire: Of course, bowel cancer is a relatively common cancer, there are about 46,000 people each year in the UK diagnosed with bowel cancer so that is quite a large number. The thing that really drives us forward in bowel cancer is that the earlier stage you're diagnosed at the greater chance of survival. So, the figures for that are quite stark, we stage bowel cancer through stage one to 4 with one being the earliest stage and 4 being the most advanced.   If you are diagnosed with bowel cancer at stage one you have a 9 in 10 chance of being alive and well 5 years after your diagnosis of bowel cancer. And if you're diagnosed at the other end of the spectrum at stage 4 that drops to a 1 in 10 and should people survive after a diagnosis of stage 4, which more people than before do they will have had a lot of treatment for their bowel cancer so the burden of the treatment will also be with them after that. So, it's really important that we diagnose at the earliest possible stage which is why studies such as the one we're going to talk about today are so important.   We have noticed that there has been a slight increase in being diagnosed at a younger age. That said the latest statistic is 2,600 people were diagnosed under the age 50 in the UK last year so it's still a disease of older people, you still have a greater chance of getting bowel cancer as you get older but it's really, really important that we're aware that you can still get bowel cancer as a younger person.   Probably one of the most exciting things that has happened for bowel cancer of recent years is our bowel cancer screening programme and the age for that now has been brought down to 50, we're not quite there all over the country, but in the UK that is the aim that everyone will be screened for bowel cancer at the age of 50. So, yes it's a common disease and staging an early detection is vital. Helen: That's lovely Claire, thank you very much for that. David, turning to you could you please explain to us how bowel cancer typically develops? David: Yes, so we know compared with many cancer types quite a lot about how bowel cancer develops because the bowel is accessible to collect samples by a technique called endoscopy which is putting a camera into the bowel from which you can sample tumours or lumps. And so from genetic research done in the last 10 years we know that, or we've known for many years actually, for much longer, that cancer is a genetic disease, it's a disease caused by alterations in genes and particularly genes that control whether the cells in our bowel grow normally and die normally as they should do. And collectively when there are alterations in genes that regulate those processes you can have a cell or collection of cells which are able to grow without restraint and don't die when they should do which are some of the hallmarks of a cancer and they also require the ability to spread elsewhere in the body which is what kills people with cancer including bowel cancer. We know from research done in the last 10 to 15 years that some of the alterations in genes that can cause bowel cancer in combination occur very early in our life, even in the first and second decade of life, but don't cause cancer. The earliest detectable abnormality is typically a polyp which is a tumour, a lump within the bowel which is detectable and if removed is almost certainly cured by removal alone but if it's not detected then as that grows and acquires more alterations in genes then it can become a cancer and cancers develop the ability to invade the bowel wall, to spread to what we call lymph nodes or glands nearby and also to spread further afield, most commonly to the liver or to the lungs.   And for most people whom bowel cancer has spread to the liver or to the lungs or elsewhere unfortunately we're not able to cure their disease which as Claire has said is why there is such an importance in detecting cancers and pre-cancers as we call them so that the tumours are not actually cancerous but come before bowel cancer as early as possible.  Helen: Thank you David. Moving on to the study, Ian perhaps you can take this, in the study that you carried out my understanding is that the whole genome sequencing was used to investigate the genetic changes that lead to the development and growth of bowel cancer. And for this participants with bowel cancer in the 100,000 Genomes Project donated both a blood sample and a tumour sample while those with rare conditions only provided a blood sample, can you explain why that is?  Ian: As you said the study really looked at 2 quite separate arms albeit with a little bit of overlap as we'll see. So, one very important aim was to look at individuals, both children and adults, who had medical problems or other conditions that were unexplained but which had some features that suggested that they weren't necessarily inherited but there may be some variation in their genes that had caused them, and roughly half of the programme was dedicated to that.   Within that there was a small number of people who had a strong family history of bowel cancer or who had large numbers of polyps in the bowel and they were analysed in a separate part of the project from what we're mostly discussing. Within the cancer arm there was a collection really throughout England of patients who had most of the common types of cancer and a few with less common cancers.   And because when we're looking at genetic and related changes in cancers we need to make sure that those changes have actually occurred in the cancer as it started growing from its earliest stages with a small number of cells in the body that were slightly abnormal and then progressing. We need to look at what genetic variation the patient has in all the cells of their body. We don't want to look at patients and say that looks an interesting change, we may be able to use that if it's present in all of the normal cells in that patient's system.   We want to make sure the change is specific to the cancer itself and therefore we have to sequence both a sample probably taken from blood and a sample taken from the actual cancer. And in a way we subtract out the changes in the blood to identify the changes that have actually occurred in the cancer itself.  Helen: That's a very helpful explanation. Does this research show that there is a role for whole genome sequencing in clinical care?  Ian: I think my own view is it is all a question of cost. I think the advantages it provides it can assess multiple types of genetic change at once. It is relatively consistent across each cancer's genome between cancers, even between centres mean that it is the method of choice. There are undoubtedly developments that will happen in the future, maybe being able to sequence longer stretches of DNA in one go that will help the analysis.   And some of the computational methods are likely to develop to identify some of the slightly difficult to identify genetic changes but it ought to be the standard of choice. There are issues and potential difficulties in collecting the high-quality samples that have been needed from pathology laboratory and that will be difficult going forward with current budges and there are lots of challenges but ultimately it in some form has to be the method of choice. What wasn't done is to look at other molecule tests or essays, looking at RNA wasn't really done on a big scale as well as DNA and other changes to DNA apart from the genetic changes were not looked at.   So, there are certainly ways it could be improved if you had limitless money but I think the project, 100,000 Genomes has shown the whole genomes are. They have a lot of advantages and ultimately probably will be adopted by the NHS and similar organisations.  Helen: David, could you now tell us about the findings of this pioneering study and what impact these findings might have on people with bowel cancer in the future?  David: So, this is the largest study to date to analyse the entire genome of bowel cancer by some margin and the fact that we've done whole genome sequencing and in so many people it has really given us an unprecedented ability to identify the genetic alterations that drive bowel cancer. And within bowel cancer we've known for some time it is not a homogeneous entity that bowel cancer is not all created equal, that there are sub-groups of bowel cancer and we have been able to refine those over previous efforts. And I guess if you were to ask what the biggest take home for me from the study is it's just the complexity of the disease.   So, as we've mentioned we know that cancer is a genetic disease, that it's driven by genetic alterations, alterations in genes which regulate the growth of cells or the death of cells or the spread of cells. And we've known for many years that there is a modest number of genes which are commonly malfunctioning in bowel cancer and they would be in the tens to dozens really. But with this work we've hugely extended our understanding of the genes that drive bowel cancer and in fact we've discovered nearly 250 genes which are altered in bowel cancer and appear to drive the growth of the cancer.   Now we know that not all of those will be validated and by that I mean that there are associations that we find at the moment, not all of which will be biologically relevant but interpreted in the data we know a large number that are previously undiscovered are or we can be fairly confident of that. And one of the take homes from that is that many of these are only altered in a small fraction of bowel cancers.   So, rather than being perhaps half of bowel cancers or a third of bowel cancers there are a good number of genes, a very substantial number of genes, which are altered in say 3 to even 1% of bowel cancers. And if we think about how we go about targeting those and perhaps we'll come onto treatment later that poses really challenges for how we work and we would think about treating patients with bowel cancer who have those particular alterations in their cancers.  Helen: Thank you David, yes we'll come onto treatment shortly, but I think Claire has a question for you.   Claire: Yes, thank you. For me as somebody who works in this every day this is such an exciting and interesting study, particularly in light of what we said earlier about early detection and how critically important that is for improving outcomes in people with bowel cancer. So, in your view do you think this research could help shape future screening programmes or prevention strategies?  David: That's a great question, I suppose in terms of screening at the moment the majority of screening is done in the UK at least by testing for blood in the stool which is relatively non-specific so I'm not sure that that would be directly impacted by this research. But one area of early cancer detection that is perhaps more relevant is quite a lot of work including from Oxford actually in recent years looking at blood tests. So, testing blood samples for early detection of cancer whereby you can test for genetic alterations, fragments of DNA that have alterations from the bowel cancer or any cancer that circulates in the blood and that tends to rely on a small number of common alterations.   And with this data I could see that we might be able to refine those tests and in so doing improve our early detection of cancer but that would need quite some work before we could actually say look that had real potential I think. And in terms of prevention there are, I think Ian may want to come in on this, one or 2 sub-groups which you might think that you could try to prevent but of course that needs a lot of extra work really.   But I think we have some clues of the biology of bowel cancer and particularly some of the sub-groups where you might think well this drug would work better in terms of preventing that sub-group or that sub-group but that will need to be the subject of future study.  Helen: Ian, did you want to come in on that at all?  Ian: So, at the moment prevention is a fairly new way of helping to reduce the number of people with bowel cancer at the level of the whole population which is what we have in the UK above a certain age group as we heard from Claire earlier. The methods used, again as we heard, are screening for occult blood in the stool and then colonoscopy to identify either hopefully early cancers or polyps and remove those. But when we think about the methods that we use for preventing other diseases then normally where they're successful using a more easily delivered and I have to say less expensive method.   So, high blood pressure is treated to reduce the risk of cardiovascular disease and there are other diseases where those what you might call molecularly-based prevented strategies are coming in. We really lack that for bowel cancer in particular, it does happen for some other cancers, but one of the great hopes is that some of these new genes that we've found could be useful in preventing cancer. And it doesn't necessarily matter that they're rare, even if there are only 1% of cancers, by using those and changing those in a normal individual before they have had cancer then we may be able to reduce that risk.   So, there are lots of potential new targets for prevention that are coming through and as David said it is going to take a lot of work to work out which of those are deliverable and who will benefit. But we have quite a lot of opportunities in that space and although that may not be us that takes that forward, it may be, but it may not be. We think it is a lot of material for those interested in chemo prevention using drugs of cancer that they can work on and with luck deliver some new ways of preventing cancer that may be simply popping a pill every morning to take your risk right down to as close as zero as we can.  Helen: Thank you Ian. David, I think you had something to add here.  David: Thanks Helen. One area of prevention that we're really interested in Oxford and many others are is using the genetic alterations that we find in bowel cancers and other cancers as targets for vaccination. Now we know that gene alterations will cause abnormal proteins which while they might drive the cancer, make it grow or not die, can also be recognised by the immune system so the abnormal proteins can be recognised by the immune system as being foreign and as foreign they can be targeted by the immune system so the immune system will try and kill the cells carrying those alterations. And we know for some sub-sets of bowel cancers those alterations can be relatively predictable actually, they occur in quite a sizeable fraction of some sub-groups of bowel cancers.   And one area that we're particularly interested in at the moment and actively pursuing is using those targets where you need some additional work to demonstrate when they are particularly recognisable by the immune system. But to use these genetic alterations is potential targets for vaccination with the intention ultimately of preventing bowel cancer in at risk individuals or ideally in the full-term time the whole population. And we've received some funding from Cancer Research UK to pursue this line of research and we have a group working on this in Oxford and as I say many others do elsewhere.  Helen: Thank you David, yes I have a vested interest in this because my understanding is this work is aimed primarily at people with a genetic condition called lynch syndrome which predisposes the people who have inherited this gene change alteration to bowel cancer, womb cancer and other cancer. And I had womb cancer, as I think David you know, a few years back and discovered it was due to lynch syndrome and so it's really exciting that you're now looking at vaccinating preventing because yes I take aspirin every day, I have my colonoscopy every 2 years which have some effect on preventing these cancers but it's not 100% guaranteed. And I don't suppose it ever will be but having the vaccination in that armoury would be fantastic I think for future generations, it's very exciting and we look forward to hearing more about it.   Thank you Ian and David. I mean we've heard a lot there about preventing bowel cancer but I think moving back now to potential treatments, you know, we've heard from David how this study has shown a number of actionable findings but what are the next steps towards treatment? How can these findings be turned into real actions that will benefit those people diagnosed with bowel cancer in the future? Ian, perhaps you would like to pick up on this to start.  Ian: That step is one, you know, in which I'm not personally an expert but a lot of the newer treatments are based on the finding of so called driving mutations which are simply genetic changes that occur as the cancer grows and contribute to that growth and ultimately if it's not treated to the spread and dissemination of a cancer. And the fact that we have reported 250 which need validation but of which a large proportion are likely to be true drivers means that anyone of those can be a potential new target.   The criteria to be used for which of those mutations to pursue, which of those driver genes to chase up are quite complicated normally, depend on many things such as the interest of research groups and small and larger drug companies. And the similarity of those genes to other genes that have evolved and the processes that they make to go slightly wrong in the cancer.   So, there is also the issue that because these are uncommon, everybody talks a lot about personalised medicine or precision medicine, this would be truly precision or personalised medicine because a genetic change that was driving the cancer in only 1% of patients is obviously not a huge number of patients although bowel cancer is a common cancer so it's not a tiny number either. But it would mean investment at that level to benefit let's say 1 to 2% potentially of all patients with bowel cancer but I think that's a nettle we have to grasp. And I think our results are showing that most of the really common drug changes either have not yet been successfully targeted in treatment or are too difficult to target.   So, we're going to have to start looking at these less common genetic drivers and design strategies, inhibitors, you know, again that can be delivered to patients relatively straightforwardly in order to see whether they benefit the patients concerned. But there is this problem of getting enough patients enrolled in clinical trials where a change is only present in a relatively small proportion of all the patients with that cancer type.   Helen: Thank you Ian. Presumably if there is a relatively small number of patients the people who are looking at running these trials might be looking at perhaps international trials, would that be one way to go?  Ian: So, I think David can speak with more personal knowledge but there are international trial networks and there are collaborations along these lines already under way. I would hope that those could be made use of even more than they are already. There is, you know, a financial consideration for those developing new anticancer treatments which are, you know, high risk work and also the costs of setting up trials and enrolling people is not a trivial thing. So, I think those are hurdles that can be overcome but it would need a concerted effort to do that. Patients will play a major role in that and patient organisations as well as 100,00 Genomes and other similar projects.  Helen: Yes, thank you, David I don't know if you want to come in on that.  David: Yes, the challenge of testing therapies in small groups is a very real one and there is lots of interest at the moment in exploring alternatives to conventional clinical trials. And as we use more electronic patient records and we have pharmacy records so there is the potential to get those data from routine clinical practice and there is lots of investments and attention on that at the moment so called real world data which is always an interesting term as if patients in clinical trials aren't in the real world which of course they are.   But it's perhaps a little more cost effective sometimes in clinical trials, of course it does pose its own challenges in how you disentangle true treatment effect from other factors because there are many factors impacting on how long people with cancer live. But there is a lot of investment and effort going into that at the moment and it will be interesting to see how that develops over the coming years.  Helen: Turning to you Claire based on your experience how well do you think people with bowel cancer understand how genomes can help with their care and what support is currently available to them in this area?  Claire: I think the answer, as it is so often is, it's dependent on individuals and not just one individual. So, I think some patients are very motivated to know as much about this as possible and to understand and to know what the next steps may be in their own treatment that may be helped by this. Others don't want to have the same knowledge and want to be guided very much by their medical teams but I think oncologists obviously are at the forefront of this and we see at the charity … we have services at the charity that supports patients and we see lots of queries into our ask the nurse service where people have been given variable information about I suppose personalised medicine as Ian alluded to and how their very specific bowel cancer may be treated, so I think it varies from patient to patient.   There is support available so we have the ask the nurse service I alluded to. We have a brilliant patient forum actually and everybody in clinical practice will have seen this, patients often become more expert than anybody and they share advice and they're moderated forums that are a very safe place for people to ask questions where there is a moderator to ensure that it is made really clear that circumstances are individual.   And the same with the ask the nurse service because you don't have all the clinical information so it is about empowering people, so there is support available. I think the other thing that is really important is equipping specialist nurses with the knowledge that they need to support their patients. This is a really exciting area of evolution for bowel cancer particularly I think in all cancers at the moment but for bowel cancer I think things have changed fairly rapidly in recent years and specialist nurses really need support in knowing that they have up-to-date information to give their patients.   So, that's another challenge for us and any specialist nurses that might be listening to this podcast we have online education on genomics for specialist nurses. Just while we're talking about that and you mentioned lynch syndrome earlier, so there has been a lynch syndrome project as I'm sure you're aware where we're trying to get testing for lynch syndrome brought into local hospitals.   So, there was some funding via NHS England so that the testing be done at time of diagnosis, so a pre-test and then a final test if that's appropriate, for everybody diagnosed with bowel cancer to see if they have lynch syndrome. And in some trusts that has been done and in others it hasn't yet and the funding hasn't quite followed in the way that we need it to enable that to happen. It's vitally important, we think there are about 175,000 people in the UK with lynch syndrome and we only know about 5% of them. And this is a gene change that is an inherited gene change so we can do what we call cascade testing where we test family members and we can then employ preventative strategies to prevent people from developing bowel cancer.   So, it's a really important project, so I think as well as supporting patients with the information around the changes that are happening in this area we also need to ensure that we support the workforce and have investment there to enable the support of all the changes and the genomic landscape.  Helen: Absolutely Claire and so much resonates there with what you've said. Having myself had cancer discovered that was due to lynch syndrome, cascade testing offered to my family members so valuable. It turns out I inherited my change from my mum who is 83, has never had cancer, so I think that's a very good example of, you know, it doesn't necessarily mean that you will get cancer but actually on that point that you made about empowering patients I always have a right smile because there is my mum going off to all her other medical appointments because at 83 she sees quite a few people and she is always the one telling them about lynch syndrome and educating them because most of them haven't heard of it, so yes it's really, really important.   And that patient forum, you're probably aware of Lynch Syndrome UK, I don't have any involvement in that other than being a member but that is so valuable for people with a particular condition to go somewhere where they can talk to or listen to other people with a similar condition, really, really valuable.   Right, well I think circling back really to the 100,000 Genomes Project I think you touched on this earlier David but reflecting on what you and Ian have told us about your study what is it about the 100,000 Genomes Project bowel cancer dataset that made this work possible?  David: There are a few things, one of which and not least of which is the sheer size of the effort. So, to have whole genome sequencing for more than 2,000 individuals is previously unprecedented and we'll be seeing more of this now as we scale up our research efforts but at the inception of the project it was very, very ambitious and to be able to deliver that is a huge achievement. And the quality and breadth of the analysis is very strong as well.   And ultimately, you know, the former gives thanks to the people that were kind enough to donate samples to the 100,000 Genomes Project, they did so knowing that they almost certainly wouldn't benefit personally from their donation from their gift and that any benefits would be some way down the line and hopefully benefit others which is what we're seeking to realise now. But, you know, it's not a given when we treat people in the clinic so we're very, very grateful to those individuals.   And I think also to the scientists who worked incredibly hard over the last 5 years to deliver this work actually. So, having been part of the team and being lucky enough to be part of the team along with Ian we've had hugely motivated individuals that really have dedicated a large fraction of their working lives to delivering this project which I think is a fantastic achievement as well.  Helen: Thank you, thank you to all those participants who at a time when their lives probably were turned completely upside down by a cancer diagnosis were offered the chance to join the 100,000 Genomes Project and said yes. As you say most of them will have known that it won't have helped them but by donating their data, you know, it has allowed this work to happen and potentially it could change lots of people's lives in the future, so thank you to them.  Ian: Could I also just emphasise and agree with what David has said, I won't go through all the individuals by name, but if anybody wants to read the published report of the work there are several people on there, Alex Cornish is the first author, but many colleagues from an institute of Cancer Research, The University of Manchester, Birmingham, Leeds, other universities in London that all contributed, but also colleagues in the NHS and/or universities who recruited patients, collected samples, processed them etc and of course the people who did the preparation of the samples in genetics laboratories and actually did the sequencing and basic analysis too.   So, it is a truly huge effort across particularly all the cancer types which is particularly a complex collection given the fact the tumour is needed and a blood sample. It's quite difficult in a way to find a formal way of thanking them for all of this but without them it wouldn't have happened.  Helen: On that note I think we'll wrap up there. A huge thank you to our guests, Professor Ian Tomlinson, Clare Coughlan and Dr David Church for an enlightening discussion on the groundbreaking study published in nature. This research is set to reshape our understanding of colorectal cancer and pave the way for new possibilities in treatment and patient care.   If you would like to hear more like this please subscribe to Behind the Genes on your favourite podcast app. Thank you for listening. I have been your host, Helen White. This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand. 

October is Breast Cancer Awareness Month. On today's program The Word on Medicine focuses on Breast Cancer: Genetics: medical experts and a patient discuss the impact of genetics on breast cancer, including the significance of genetic testing, hereditary cancer risk clinic and surgery. Please join our panel of experts Drs. Ann Maguire, Jasmine Walker, Kerri Becktell, and Morgan Armstrong and Samantha Stachowiak, certified genetic counselors. We hope you listen in to this very important and timely program!

Kevin Haigis, PhD, Cancer Biology, Chief Scientific Officer, Dana-Farber  Kevin M. Haigis, PhD, joined Dana-Farber as Chief Scientific Officer in 2020. Prior to assuming this role, Dr. Haigis was Director of Cancer Genetics at Beth Israel Deaconess Cancer Center. Dr. Haigis received his PhD in genetics from the University of Wisconsin-Madison and did post-doctoral work at the Massachusetts Institute of Technology, where he was a Robert Black Fellow of the Damon Runyon Cancer Research Foundation. Dr. Haigis has a long-standing interest in intestinal biology and the molecular pathogenesis of colorectal cancer. His laboratory combines computational and informatic approaches with experimental approaches in genetically engineered mice to study the relationship among Ras oncogene signaling, colorectal cancer, and inflammation.

In this episode, we talk to Professor Clare Turnbull, Professor in Cancer Genetics at the Institute for Cancer Research and Honorary Consultant based at the Marsden. Title of paper: Breast cancer risk assessment for prescription of menopausal hormone therapy in women with a family history of breast cancer: an epidemiological modelling studyAvailable at: https://doi.org/10.3399/BJGP.2023.0327Prospective longitudinal studies (such as the Collaborative Group on Hormonal Factors in Breast Cancer [CGHFBC]) have enabled the estimation of relative risks of breast cancer associated with different durations of exposure to and formulations of menopausal hormonal therapy (MHT). Risk models such as BOADICEA enable prediction of age-related breast cancer risk according to the extent and pattern of breast cancer family history. This study undertook integration of these two data sources (namely the CGHFBC datasets and the BOADICEA model) in order to model annual and 5-year risks for breast cancer incidence for the age window 50–80 years for hypothetical unaffected female consultands with different patterns of MHT exposure and different patterns of breast cancer family history, also generating predictions for breast cancer-specific death. This study modelled combined and oestrogen-only MHT but lacked data for analyses of newer types of MHT such as micronised progesterone or non-oral preparations.

Dr Bill Nelson talks to Dr Ken Kinzler, cancer researcher and Co-Director of Ludwig Cancer Research at Johns Hopkins, about his work in cancer genetics, the creation of screening tests for early detection and the future of personalized medicine.

As part of the 2024 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses individual genetics in the risk of developing prostate cancer, genomic testing to distinguish indolent verses more aggressive disease, and genomic testing to determine best treatment for individual patients. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 39755]

As part of the 2024 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses individual genetics in the risk of developing prostate cancer, genomic testing to distinguish indolent verses more aggressive disease, and genomic testing to determine best treatment for individual patients. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 39755]

As part of the 2024 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses individual genetics in the risk of developing prostate cancer, genomic testing to distinguish indolent verses more aggressive disease, and genomic testing to determine best treatment for individual patients. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 39755]

As part of the 2024 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses individual genetics in the risk of developing prostate cancer, genomic testing to distinguish indolent verses more aggressive disease, and genomic testing to determine best treatment for individual patients. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 39755]

As part of the 2024 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses individual genetics in the risk of developing prostate cancer, genomic testing to distinguish indolent verses more aggressive disease, and genomic testing to determine best treatment for individual patients. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 39755]

In this episode of Hart2Heart with host Dr. Mike Hart, Dr. Hart sits down to dissect all you need to know about logistical ways to reduce the risk of a variety of cancers along with debunking some myths surrounding cancer causes.  They also cover the importance of early screening for cancers like prostate and colorectal, the role of lifestyle choices such as diet and exercise, and the effectiveness of various health interventions like PSA tests and colonoscopies. Guest Bio and Links: Dr. Joe Zundell is a renowned cancer biologist focusing on early cancer detection and ways to reduce cancer risk. Listeners can learn more about Dr. Zundell at his Patreon Dr. Joe Zundell, on IG @dr.joezundell, and on   Resources: Outlive: The Science and Art of Longevity by: Peter Attia  Show Notes: [0:00] Welcome back to the Hart2Heart Podcast. Dr. Mike Hart welcomes guest, Dr. Joe Zundell to the listeners    [1:00] Dr. Zundell gives a brief introduction and background of himself  [3:00] Recommendations and the critical role of early screening for cancer  [11:30] Dietary impacts on cancer risk [13:00] Lifestyle modifications can aid in cancer prevention [19:30] Correlation of fiber and longevity  [24:00] Vitamin D and metastasis [27:15] Cancer and LDL  [34:40] Based on Examine.com THIS is the top supplement to lower CRP  [35:45] Acute vs. chronic inflammation  [38:00] Debunking some myths with headphones, Bluetooth, and other electronic devices [48:15] Do microwaves increase the risk of cancer?  [51:45] The downfalls of living a sedentary lifestyle  [1:00:30] Fasting intervention and cancer reduction [1:04:30] Cannabis and cancer  [1:10:00] Alcohol and cancer  [1:14:30] Mammograms and cancer  --- Dr. Mike Hart is a Cannabis Physician and Lifestyle Strategist. In April 2014, Dr. Hart became the first physician in London, Ontario to open a cannabis clinic. While Dr. Hart continues to treat patients at his clinic, his primary focus has shifted to correcting the medical cannabis educational gap that exists in the medical community.  Connect on social with Dr. Mike Hart: Social Links: Instagram: @drmikehart Twitter: @drmikehart Facebook: @drmikehart  

Dr. Shannon Westin and her guests, Dr. Judy Garber and Dr. Geoffrey Oxnard, discuss the paper "Germline EGFR Mutations and Familial Lung Cancer" recently published in the JCO. TRANCRIPT The guest on this podcast episode has no disclosures to declare.   Shannon Westin: Hello, and welcome to JCO After Hours, the podcast where we get in-depth on articles that are published in the Journal of Clinical Oncology. I am your host, Shannon Westin, Social Media Editor for the JCO and Gynecologic Oncologist by trade. And it is my great pleasure to speak today with you about an amazing manuscript entitled, “Germline EGFR Mutations and Familial Lung Cancer.” It was published in the JCO on August 14, 2023.  The authors have no conflicts of interest, and they are Dr. Geoffrey Oxnard, he's a Thoracic Oncologist and Associate Professor, Hematology and Medical Oncology at Boston Medical Center.  Welcome, Geoff. Dr. Geoffrey Oxnard: Hi, Shannon. Thanks. Shannon Westin: And Dr. Judy Garber, the chief of the Division of Cancer Genetics and prevention at the Dana-Farber Cancer institute in Boston. Welcome, Judy. Dr. Judy Garber: Thank you. Hi, Shannon. Hi, Geoff.  Shannon Westin: So excited you both could be here. Let's get started. So first I just want to levelset for our audience. Can you speak just a little briefly about the incidence and mortality of lung cancer and how that's been changing over time? Dr. Geoffrey Oxnard: Sure. Lung cancer is common and it's deadly, more than 200,000 cases a year in the United States, more than 100,000 deaths a year in the United States. But I think importantly, it's evolving. Its biology is evolving as smoking incidence goes down. We've identified these genomic subtypes of lung cancer that are sort of increasingly apparent and important as we think about its treatment. Outcomes are changing with emerging therapies, presentation is changing with lung cancer screening and with a growing ability to now find cancers early and prevent them. And so it's in that setting of a very dynamic disease that we chose to study a really unique little slice of it, which is germline risk. Shannon Westin: So let's take that one step further because I think that's really interesting. You mentioned the genomic aberrations and kind of how you're using that to target. Can you expand upon that a little bit more for me? Dr. Geoffrey Oxnard: Lung cancer that I've long studied is different than breast cancer when Judy has long studied because we think about its somatic alterations, we've always thought about KRAS mutations, EGFR mutations, and smaller and smaller splice limit. ALK, RAS, RET HER2, etc. And so tumor testing in lung cancer has one of the first to be standard across on solid tumor oncology. And the germline genetics was kind of an afterthought and is the flip, I think, of how genetic testing evolved in the breast cancer space for example. Dr. Judy Garber: I might argue a little bit if breast cancer was earlier and it was subtyped some molecularly it doesn't have as many molecular subtypes yet perhaps as lung cancer. But we've all been studying the somatic space to look for targets for therapy. And the germline space, certainly in breast cancer, came much earlier. And everybody knows about BRCA1 and 2. Now, we hope everybody knows about Lynch Syndrome, but certainly not everybody's thinking about inherited lung cancer risk. Dr. Geoffrey Oxnard: Yeah, these have converged. I think 10 years ago when this kicked off, I felt like a super outlier for thinking about, wait a second, what about the genetics behind all this that is leading to this strange variable presentation of lung cancer? For example, we know that in Asian populations, one type of lung cancer, EGFR mutant lung cancer, is more common. There must be some geneticness that leads to that. What explains the sort of pattern of presentation of these genetic subtypes in the populations we see in the US, that's pretty unclear?  Dr. Judy Garber: So, I think, Shannon one of the clues about all this came from the fact that the EGFR mutations were being identified in the tumors. And then I really should let Geoff tell this story, but as the amateur thoracic person in the room here, to me, it was so interesting that there were the EGFR mutations, then there was treatment exploiting EGFR mutations, and the most common resistance mutation was this T790M variant. But when labs started testing EGFR, there was a small group of people who had that resistance variant without ever having been treated at all. So that was the obvious question, what was it doing there? And that's where Geoffrey came in.  Dr. Geoffrey Oxnard: Yeah, this is a patient I met more than a decade ago at my fellowship in MSKCC. She'd been living with a T790M mutation in her tumor for years and years and years. I was like, “Well, I don't understand. Why is this sitting there?” And she had this sort of slightly mysterious history of lung cancer in her family. And we realized, wait a second, this T790M was behind her cancer from the beginning, and in fact, might have been the basis of why she developed lung cancer. And so that actually motivated a career development award I submitted to the Conquer Cancer Foundation of ASCO, a grant I received, and that then led to a program that I led at Dana-Farber under Judy's mentorship, where over the past decade, we sort of focused in and studied this strange, rare syndrome, really to dig into inheritedness as a kind of different flavor of lung cancer genetics.  Dr. Judy Garber: Well, and now it's really a good time to think about this because we're recognizing there are younger cancers, colon cancer, like an epidemic, and lung cancers, and we're not sure how many of them are genetic or come from other exposures. Geoff talked about the differences in Asia, some of which are certainly genetic, some which may be environmental, especially in the lung, where that's such an issue. But trying to sort these things out, you have to be willing to think a little bit differently. And that was fun when Geoff came from the lung program, interested in the germline, we said, “Oh, we have to do this.”   Shannon Westin: Well, let's talk about what you did. I would love to hear and I know the audience would as well about the design of this study, so called INHERIT study. Very good name. I love a good name. This is a good one.   Dr. Geoffrey Oxnard: Yeah. So that stands for Investigating Hereditary Risk of T790M, INHERIT. I forget where we coined that. Let me give you a case example. A patient presents in his 40s. I remember this man. He has an EGFR mutation in his tumor. He has a T790M in his tumor as well. He had routine tumor testing that lung cancer patients were getting. And he says, “Oh, also, my brother had lung cancer in his 40s just a couple of years ago. He was a smoker, though. He never had genetic testing.” And so this patient we test on the study, we hypothesized that when patients present with T790M at diagnosis, that it would be a representation of an underlying germline EGFR mutation. Our hypothesis was that about 50% of the time T790M at diagnosis would be explained by a germline behind the doll. And that that could then empower families like this one to understand the kinds of lung cancer they're getting in their family, the kinds of treatment they should be getting, and the kinds of testing they should be getting to look for lung cancer at risk early on.   It really saddens me that in a family that doesn't know about this condition, the brother would never get testing and would never think that I might be getting or might never get testing, might not be disposed to getting testing, and might not realize there's a therapy available to target that EGFR mutation if he died young without even much treatment. But this individual, we tested his lung cancer, we found him a therapy, we put him on a pill therapy that could last a very long time. And so we set up a program with a consortium alchemy, the Addario Lung Cancer Medical Institute, where we enrolled at three sites, both at Dana-Farber in Boston, Vanderbilt, and Ohio State, with some motivated investigators there that we appreciate their collaboration.  But also, again, this is now more than 10 years ago, set up shop where people could enroll remotely, that if you found a T790M in your tumor, for whatever reason, you could reach out to the team at Dana-Farber centrally and get consented online and even get counseling. And this is one of the early ways of getting this remote participation. And you can imagine, over the course of the study, we quickly ran out of individuals at any given site, but that remote enrollment accelerated and really allowed us to get to the large population of remote study. Dr. Judy Garber: We were lucky that things were happening. The things you don't expect. So EGFR testing was not routine at that time. And the EGFR testing that had developed in Dana-Farber and NGH became standard of care at Dana-Farber so we were finding those patients, and then grew outside as well, at institutions and testing labs. And these people would somehow emerge so we were very lucky that we were able to set up remote testing. We could send and get a saliva sample and be able to test. Or these were people who got tested through their own doctors, found out they had this mutation and then went online and said, “Who knows anything about this?”  I would say that we and our amazing genetic counselors who spoke to all these patients, took their detailed family histories, got their other information, and were able then to really build out these cohorts so we can understand them. And to look at, for example, Geoff's question, it was really his question, “Why did we have such clusters in certain parts of the country? Could it be that there were the so-called founder mutations that somebody had this mutation and they spread their genes around so that they're around the country and that turned out to be true. Shannon Westin: It's so fascinating, and I love how you kind of almost crowdsourced getting these patients to you because I was mystified because it's such a rare aberration and you had so many patients. Let's talk a little bit maybe about your patient population and who volunteered, and is it reflective of kind of you do think, the general population? Dr. Geoffrey Oxnard: I want to give a shout out to the GO2 Lung Cancer Foundation. That really was a lot of the ‘rah rah', getting people to know about this, having some word of mouth and spreading the word. And so certainly there are physicians around the country that have been like found patients that I've got to know because they sent us patients to study over the years. We ended up getting germline testing on 141 individuals who presented eligible for testing because of either a relative or a mutation that was suspicious for inherited. Most of those were enrolled remotely, in the end, as you might expect. We found what you might expect, that this was Mendelian in its inheritance, that if you had a first degree relatives, they had 50% chance of having this. And so we sort of slowly built these pedigrees of individuals who once they were positive, would refer in their relatives and say, “Please go get testing. Let's describe our family and help understand our risk.”   It ended up boiling down to six individuals with a germline EGFR mutation from 39 different families. I remember one family where two different cousins presented separately to the program, not knowing each other was participating. And so, of course, there's not that many of these families around the United states, but we're really very lucky to have touched so many different individuals. What did we find? That if you had a germline EGFR mutation, your tumor almost always had an EGFR mutation. That really is the dominant biology of lung cancer that presents in these affected individuals, that it presents young, that the likelihood of developing lung cancer is around 55% by age 40 to 50. So it really is– I'm trying to make sure I'm quoting that right, actually, Shannon, I'm looking at the numbers here, but it was a really broad range of diagnosis.  We had a 28-year-old who was affected and an 83-year-old who was affected. I saw a family where the grandson had lung cancer, but his father and grandfather who had germline EGFR mutations, did not. So variable penetrance. Judy, of course, told me, “Geoff, this is the way families present. Come on, Geoff.” But other families, incredible penetrance– not everyone having lung cancer, many of them smoking, some of them not smoking. But for these families, what a sense of empowerment to say, “Oh, this helps explain what's going on in our family, why this is happening at a younger age.” And helps explain the therapies that we had some concern about giving these potent EGFR inhibitors originally, understanding every cell in their body has this EGFR mutation. Are we going to somehow cause toxicity? No. These potent therapies can be effective, can be tolerated, and can work for many years. So we really feel hopeful that we've described a syndrome that's out there that people see and that has a distinct presentation, a distinct treatment pattern, and a clear association with lung cancer risk. Dr. Judy Garber: And I think that now the opportunity is to say, can you find these people before they get their lung cancers? Some of them have abnormalities on scans. Think of it's like the APC, the polyposis coli of lung cancer. You can see these adenomas forming, but we can't really predict exactly who's going to develop tumor when. And that, I think, is a challenge that families have to help us with because we need to continue to identify some of these people who have not had cancer. They have children. They want to know what to tell them besides not smoking adamantly and maybe with some hopes that we're going to do some screening.  I am afraid there probably is not good data that EGFR inhibitors could be used for prevention, but it's tempting to think that way. So there's plenty of work to do still to sort out the questions. This is the nature of genetics. We often find inherited susceptibility and people want to know, “Well, why would I want to know? What am I going to do about it?” And here I would say, “We're going to figure out what's your risk more specifically, and how can we help reduce that risk, in addition to telling you not to smoke.” Dr. Geoffrey Oxnard: I do want to allude to Judy's comment about founder effect. I didn't tell you exactly about the presentation, but these families, first off, we only found germline EGFR mutations in Caucasian individuals and in black individuals, and it was mostly in the United States and in fact, enriched in the southeast United States. And don't get me wrong, we had enthusiastic participation from Vanderbilt. But still it seemed like there was more southeast United States prevalence. And even families I met in the Boston area would say, ‘Oh yeah, I have relatives going back to Arkansas.”   And so we ended up with a bit of a suspicion for this geographic enrichment, studying the genomes of these affected individuals, and in fact did find a very large region of chromosome 7 that was shared in more than 90% of the folks we tested, suggesting a founder effect in the southeast United States, probably white and black. And that goes back hundreds of years, maybe 200, 300, 400 years, as far as we can estimate, making me think that this is a fairly unique syndrome that we're seeing in North America, but actually may not be prevalent in other parts of the globe. Though we did identify a single individual in Australia, it might be a unique phenomenon in North America. Dr. Judy Garber: At least more common. But these days, people travel, so hard to know. Shannon Westin: I don't know if you've gotten a chance to do this - any other cancer type seeming to be associated with this mutation? Dr. Judy Garber: No, fortunately not. Shannon Westin: Okay, very interesting. And what about outcome? What was the association, or was there any association of these mutations with cancer related outcomes? Dr. Geoffrey Oxnard: I would say the survival of these cancers isn't that different than EGFR mutant lung cancers. If they get to effective therapy, they can live for years on therapy. If they don't, they can do quite poorly. One interesting finding is that they can present in a multinodular fashion that might be multiple primaries. And so you can kind of use an approach of eliminating individual clones. Sometimes it's been described these different tumors have different mutations, and so you might treat them like a stage IV lung cancer, but actually they lived for a long time because actually they had multiple stage I lung cancers, so it can present a little bit differently. And then we tried to collect CT scans on affected carriers who did not yet have lung cancer to see if they might develop lung cancer. It was not required on study, and it's sort of an area of future investigation. But as you can imagine, lots of lung nodules and certainly anecdotes of individuals where we found early precancers through the screening effort, motivating the investigation that Judy was alluding to. Dr. Judy Garber: I think this is what you expect in inherited predisposition that you have an earlier chance. So some of them are younger, not the 84-year-old, but that they could be younger, that they could have multifocal disease, that their biology could be different, but could be the same, maybe accelerated, maybe not. Some of these are slower. And I think that's why we're excited to be able to continue this work with the group at Dana-Farber.  Now, Jaclyn LoPiccolo is going to lead the INHERIT study, but much of the team is the same. And now the focus will be even more on trying to really quantify the risk and help think about prevention strategies and screening for these patients. It's a little tricky to want to do too much chest CT screening. On the other hand, there are lower dose CTs now, and we hope the guidelines will clarify the role of inherited risk. At ASCO this year there were a lot of talks about inherited lung cancer risk, but nothing is quite as well characterized as, I think, the T790M population. Shannon Westin: Well, thank you all so much. This was fascinating. I learned a ton and I know our listeners did as well. And thank you to our listeners. This was “Germline EGFR Mutations and Familial Lung Cancer.” Again, published in the JCO August 14, 2023. So go check it out and check out our other podcasts on the website or wherever you get your podcasts. Have an awesome day.  The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions.  Guests on this podcast express their own opinions, experience, and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.  

This week Bobbi Conner talks with Dr. Kevin Hughes about hereditary cancer and genetic testing. Dr. Hughes is Director of Cancer Genetics at Hollings Cancer Center at MUSC.

On today's episode of the G Word, our guests will be discussing the CanGene-CanVar programme. Funded by Cancer Research UK, the 5-year programme aims to create an interface between NHS clinical care and research that will expand genetic testing access for those with inherited cancers. Our host Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Dr Helen Hanson, Consultant in cancer genetics at the Peninsular Regional Genetic Service, Kelly Kohut, Lead Genetic Counsellor at the South West Thames Centre for Genomics, and Rochelle Gold, Patient Representative on the CanGene-Canvar research programme and co-founder of BRCA Journey.   "There is also the possibility of finding out genetic information that's familial or inherited, which could mean that the information is not only important for the person who is being treated for cancer at the current time but also as a next step informing relatives that they might have a higher chance of getting cancers in the future due to a genetic variant..."     You can read the transcript below or download it here: How-are-genetic-tests-transforming-cancer-prevention.docx   Amanda: Hello and welcome to The G Word.  My name is Amanda Pichini and I'm the Clinical Lead for Genetic Counselling at Genomics England.  We know that cancer is a very common disease.  About one in two people will develop cancer at some point in their lifetime.  Cancer is a disease of the genome involving many changes to a person's genome over time as well as other factors.  Only a small proportion of all cancers are inherited, but this can have a significant impact for those families who have a much higher risk of cancer and options to reduce their risk.    Today I'm delighted to be joined by Dr Helen Hanson, Consultant Clinical Geneticist; Kelly Kohut, Consultant Genetic Counsellor; and Rochelle Gold, Patient Representative and co-founder of BRCA Journey.  We'll be discussing the CanGene-CanVar programme which aims to link NHS clinical care and research to expand access to genetic testing and care for people with inherited cancers.  Welcome, Rochelle, Helen and Kelly to The G Word.  Thank you for joining me today.  Let's start with some introductions.  Rochelle, over to you?  Rochelle: Hi, everyone.  I'm Rochelle and I'm one of the Patient Reps on the CanGene-CanVar research programme.  I also co-founded an organisation called BRCA Journey that helps to raise awareness of the BRCA genetic mutation amongst both clinicians and the community, and also supports people who might be at risk of the mutation or who are thinking about testing, all the way through to maybe having preventative treatment or preventative surgery.  We support those with that decisions.  We're not genetic counsellors but we do basically talk to people about our experience and knowledge that we have of what it's like as a patient to be someone living with the mutation.    Amanda: Thank you.  Could you briefly tell us what BRCA is and how you came to be a patient?  Rochelle: BRCA is a genetic mutation that puts people at greater risk of breast and ovarian cancer.  My mum had the mutation, in fact she had two of the mutations which is apparently quite rare.  She passed away from breast cancer and just before she passed away I found out that I had the genetic mutation as well.  I personally have had preventative surgery and reconstruction to prevent myself from getting breast and ovarian cancer.  I got involved in being a patient rep so that I can advocate for people who may have the mutation, but also make sure that as many people as possible can be tested and be aware that they have the mutation and have that power to have the knowledge to be able to do something about it should they so wish.  Amanda: Thank you so much for sharing that with us.  Kelly, over to you?  Kelly: Hello, everyone.  I'm Kelly Kohut, I'm the Lead Consultant Genetic Counsellor at the South West Thames Centre for Genomics, which is based at St George's Hospital in London.  For many years I've been working in clinical practice in genetic counselling, seeing patients and their families regarding personal or family history of cancer, offering genetic testing where that's available, and then giving the results and helping to refer people on for surveillance programmes and to discuss risk reducing options, and also help a lot with communication within families, sharing the information from the genetic test results.    For the past few years, I've also been doing my own research as part of the CanGene-CanVar programme, funded by the charity Cancer Research UK.  This has involved partnering directly with patients and other expert stakeholders to co-design a patient website to support decision-making around the genetic chances of getting cancer in families.     Amanda: Thank you.  And Helen?  Helen: Hi, everyone.  I'm Helen Hanson, I'm a Consultant in Cancer Genetics.  I'm based at the Peninsular Regional Genetic Service which is in Exeter.  In my clinical practice I see patients who either have a cancer diagnosis to consider whether they may have an inherited susceptibility or people who maybe have a family history of cancer to try and determine if they are at risk due to their family history.  Like Kelly and Rochelle I've also been involved in the CanGene-CanVar programme for the last four years.  I've been involved in work package three of the programme which is developing clinical guidelines with the patients who have an inherited predisposition to cancer.  I was also fortunate enough to be given some funding to carry on with this work beyond the programme in the new NIHR Exeter Biomedical Research Centre.    Also, I'm currently chair of the UK Cancer Genetics Group, who has an aim of improving the management of patients who have an inherited predisposition to cancer.  It's been really great to work on all these different things and try and bring things together to try and improve care for patients who do have rare inherited genetic conditions predisposing to cancer.   Amanda: Fantastic.  Thanks, everyone.  Kelly, I wondered if you could start us off by just explaining a little bit more about how genetics and genomics is relevant to cancer.  Especially inherited cancers, why is this an important thing to talk about?  Kelly: The availability of genetic testing has been increasing steadily over the years.  Currently from pretty much anyone who's been diagnosed with cancer there should be some awareness around the possible benefit of knowing the genetics behind the development of that cancer and whether any genetic or genomic testing might help to choose more personalised treatments or surgical options for that cancer that's been diagnosed.  There is also the possibility of finding out genetic information that's familial or inherited, which could mean that the information is not only important for the person who is being treated for cancer at the current time but also as a next step informing relatives that they might have a higher chance of getting cancers in the future due to a genetic variant and that they could ask their GP for referral to genetics to be offered genetic testing and to find out about their chances of getting cancer and the choices for how to manage that.    Amanda: Thank you.  There are clearly some important things that someone would do differently when they know they have an inherited cancer.  Helen, how can we make sure that clinicians and patients and families know what do to in these situations?  Helen: Following on from Kelly explaining the amount of genetic testing we can offer has really increased over the last five to ten years and we're not in a position to offer many more patients genetic testing, it's important that we also consider what to do with that information when we discover somebody does have a pathogenic variant or a mutation in a cancer predisposition gene.  There are over 100 different cancer predisposition genes described and actually having a variant in one these genes is rare.  It's difficult and like other conditions in medicine due to their rarity to really understand how best to manage these patients.  But what's very important is that we try to understand how best we can help patients manage their cancer risk based on the lifetime risk of cancer and the particular cancers that they can develop and ensure that patients across the country are all being given the same advice, the same information about their cancer risks.    Through the CanGene-CanVar programme we've had a whole work package which is devoted to clinical guideline development where we've looked at a number of these genes and looked at the evidence that is available in terms of cancer risks, the utility of surveillance or early detection of cancers in that condition, and also whether risk-reducing surgery could be offered.  Really try to bring together groups of experts to discuss the evidence because for some genes it really is quite limited due to the rarity of the condition.  The overarching aim is really to develop guidance that is relevant and can be offered in our current clinical practice and is consistent to all patients who have a variant in one of these genes.  Amanda: You mentioned that many of these inherited cancer conditions are very rare. Is there a need to look internationally or collaborate internationally?  How do you pull some of these things together when there's so little information?    Helen: We definitely have found it really helpful to have international collaborations.  Some of these conditions there may be very few patients in the UK who have this condition, so each individual clinician who works in cancer genetics may have only seen one or two patients with the condition than themselves and, therefore, collaborating with international colleagues has been very helpful and we have recently published some guidance for a condition BAP1 tumour predisposition syndrome which increases an individual's lifetime risk of developing mesothelioma, which is a type of lung cancer, renal cancer and melanomas of the skin and eye.  This is a rare condition, but we worked with European colleagues to develop a set of guidelines advising what surveillance the patient should have, so looking to melanomas, looking for early detection of kidney cancers, so having that international collaboration has been really very helpful because in the UK there are so few cases per centre of individuals who have that condition.     Amanda: That sounds really helpful.  Rochelle, we know that shared decision-making is so important in healthcare.  How can we make sure that the voices of patients are reflected within these guidelines that were developing and that it's clear to them what needs to happen for their healthcare?     Rochelle: I think it's really important that patients are involved in the development of the guidelines, first of all, and actually within those guidelines there is stuff that talks about that, being about shared decision-making.  A lot of these guidelines are in a language that are quite a clinical language that is not necessarily accessible to patients themselves.  It's really important that they're part of the creation of them but also that there are things out there that enable people to understand what are these guidelines about, what do these guidelines actually mean in practice.  When you find out that you have a particular genetic mutation, of course, the first place you probably go is Google.  You find a hell of a lot of information and you find all sorts from different countries and different people and different organisations.  You're like which is the thing I need to look at, which is the thing that actually tells me what's going on, which is the thing that really helps me to understand what this actually means for me and what should happen to me?  What is the pathway for me, etc.    I think we also need to recognise that people have different levels of health literacy as well.  I am someone who can probably navigate my way around a very complex system, which is the NHS, maybe better than other people.  But there are plenty of people out there who this is new people, this is a completely new thing that's happened to them, a completely new thing to understand.  If you're not used to being part of health systems and navigating your way around it, it can be quite scary.  What does mutation mean?  What does it mean for me?  What does it mean to my future?  What does it mean for my family?  All this information.  There needs to be something somewhere that talks about this, some sort of lay way and helps people to understand what this means for them and helps them to engage with it.  To some extent, that's where my organisation was born from, that thing about having somebody who can just talk about it in normal words, in normal terms and normal views of what these guidelines actually do mean.  The fact is they are just guidelines, they don't tell you this is what you do.  You're this person, you're in this circumstance, you do this, it doesn't.  There's some ambiguity there that needs to be navigated by the patient and they need support in order to do that.  Amanda: That's a great point.  Having previously worked as a genetic counsellor, also seeing patients with inherited cancer conditions, it really strikes you how individual each person's journey and decisions are.  They're thinking about all kinds of factors in their life or in their family's life.  Navigating through that and understanding do I have surgery or do I have screening and how do I make decisions about this is based on my previous experiences and so many other factors.  Having access to different sources of support to help people navigate through that feels incredibly important.    We've been talking a bit about inherited cancers in general, but you're all here because you're involved in the CanGene-CanVar programme.  Kelly, could you tell us a bit more about what that is and what he programme is aiming to achieve?  Kelly: The CanGene-CanVar programme is a five year grant funded by Cancer Research UK.  It involves six different work packages, so lots of experts all around the UK have been allowed to have some dedicated time to work on specific areas where there hasn't been enough resource put in in the past which has resulted in a real gap between the research and the current findings and actually using that information to benefit patients by bridging the gap and putting those research findings into clinical care.    My programme is in work package four which is co-designing patient resources which are decision support interventions.  Basically, it's a website and it can be printed as a booklet and it's interactive and it's up to date and it's personalised to help convey the complicated information about genetic cancer conditions in a way that's meaningful and patients can understand, and it helps them with their personalised shared decision-making.  The CanGene-CanVar programme is underpinned by the patient reference panel and they've been involved, including Rochelle and others, from the conception of the idea of the programme and all the way through with various different activities helping to look at documents as they're developed, before their finalised, and giving input in focus groups and one-on-one and email conversations.  They're called upon frequently to share their lived experience and say what's important to them when they make decisions and that's really helped to drive the direction of the research and inform the results before they're published.     Amanda: That sounds like a really helpful approach to developing something in a way that's really working very closely with patients and participants.  Rochelle, it sounded like you were involved in that.  Can you tell us a bit about what that was like from your perspective?  Rochelle: It's really rewarding, it's really motivating to be actually one of the patient reps in relation to this.  I don't want to make my colleagues from the team blush, but it's just such an inclusive environment where as a patient is really welcomed, really heard, it's very much a partnership and that's been really, really important and it makes you feel valued as a patient and actually the importance of the lived experience the patient view has really been prominent in this.  I would say that's why it's helped develop such a useful tool, the fact as a patient people are really valuing and taking into account our lived experience, our views, our understanding.  It's been quite fun in some of the sessions.  There have been some good debates between us and some of the clinicians and it's been really good and really useful.  I think some of the people who maybe haven't encountered a patient panel before and engaged with patient's lived experience have probably learn a lot from it because we are pretty empowered to use our voice in this.  It's been a really great experience.   Amanda: I'd love to dig into those debates a bit more.  Kelly, were there things that you changed in the decision aid as a result of some of those discussions or as a result of that input that maybe surprised you?   Kelly: We have made changes based directly on what we've learned from the patients presenting their lived experiences.  They've been very open and honest with us.  Like Rochelle, I felt so privileged to be part of this real partnership with the patients.  As a genetic counsellor who had many years of experience in clinical practice before moving into this research role, I've been really surprised but also gratified by how much I've been able to learn from the patients in a different way because I am sort of taking a step back, I'm there as a researcher and not directly as a clinician looking after someone one-on-one in clinic and just thinking about their specific needs at that time.  But because I'm hearing from people from all different situations, different parts of the UK and other countries and maybe it's 10/20 years since they had their genetic diagnosis are actually getting a bigger picture of their care needs that we might not have heard about as the clinicians on the ground because they might not be coming back to tell us.  If we haven't opened the door to that conversation about their personal situation or who's influencing them or what's important to them when they make decisions, we just might not have learned about the thing they're grappling with and they've gone off and maybe Googled, they've found a patient support group or something else to support them.    In my research and in my interviews and the focus groups, all of the activities I've been learning about the gaps in care, what might be needed to address that.  The decision aid has not been yet ruled into clinical practice but we're very keen to get it out there and everyone wants it and wants to use it.  We want to make sure that we've developed it in a robust patient-centred way as much as we can for us before we put it out.  It will always be updated and go through refinements, but hopefully in the New Year we will be able to let people start using it in the real world situation.  Amanda: That's great, I'm sure you're looking forward to that.  Helen: I was just going to add to that in terms of the guideline development we've had a number of consensus meetings where we've made decisions about guidelines, for example, genes that can be predisposed to ovarian cancer and we've included patients from the patient reference panel and from other patient groups in those consensus meetings.  Again, as Kelly said, that's been so helpful because it's really brought something to those discussions and it is a different perspective than when we see patients in clinic because often we're seeing them at the point of genetic testing or maybe for their results, but actually that doesn't give us that overview of the whole patient journey and the whole patient experience.  I think that has been really one of the benefits of this programme and Kelly has been really pioneering the co-design of patient information leaflets, decision aids with patients.  Rather than clinicians designing things for patients that we think that they will understand, it's actually working with patients from the start to get things right the first time.  It's been a really great part of this programme.  Amanda: Rochelle, did you want to add something further here?   Rochelle: Yes.  I think one of the sessions that we had as a patient and clinician and researcher session that really stood out for me was when we started looking at how do people make decisions. We had academics and researchers who've looked at how do people make decisions, talk about the knowledge base and the research base that we have about it.  As a larger group of patients we got together to discuss about how have we made decisions.  It was really interesting because I don't think I've ever reflected on how I made the decision and what came from that in terms of what I did about having my mutation.  Hearing about how other people did as well, that session really does stick in my mind and actually I learnt a lot as a person about decision-making theory but also about myself and reflecting on how I make decisions.  So as a patient involved in this, it's not always about what I bring to this but actually as a patient rep you get a lot from it, too.  I've learnt a lot from the colleagues that I've worked with.  Amanda: That's fantastic.  It's really great to hear the careful thought that's gone into this, a real excellent example that hopefully others can look to.  I think, Kelly, hasn't your work won an award recently as well?  Kelly: We as a whole team won an award from the academic health science network and the NHS Confederation, it's called the Innovate Awards 2023.  This was for excellence in patient and public involvement in transformation and innovation.  Yes, it was a chance to showcase the really positive experience that we've had.  I think on all sides we've learnt a lot from each other and just to hope to inspire other researchers and clinicians to take this co-design approach with patients because we all benefit from it so much.  We think that the resources, the guidelines, everything that we develop will be better from the start if we work together throughout the project.    We're really hoping to encourage others to consider from the beginning of their idea about a research programme or clinical development to bring the patients in right at the start, because they can really help to guide where things go next and then throughout.  Even through to publications being on, committees, being co-chairs, presenting together at conferences, that can all help to really share the experience and the benefits that we get from the partnership.  Amanda: That's great, congratulations.  Coming back now to some of the aims of CanGene-CanVar and trying to bridge that gap, as you said, between research and clinical care, I guess that means there are some needs that still aren't being met that are falling through that gap at the moment.  Helen, from your perspective what are some of those unmet needs that we currently have or areas that are still needing improvement?    Helen: I think there's still lots that we have to learn, particularly about individual risks for patients.  We might have patients who all have a pathogenic variant in a certain gene but their risks might be slightly different due to factors that can modify their risk.  Trying to understand some of those risks better so that we can really have much better informed discussions with patients about their lifetime cancer risks I think would be really helpful.  Work package one of the programme is really focussing on that and looking at some of the information we have through national registries and trying to understand risks for specific genes better, which will help our discussions with patients, and then we still need to understand, which is more outside the programme, more how surveillance, so early cancer detection through screenings such as mammograms or ultrasounds for different cancers can help detect cancers early. There's still lots of information that we need to learn.    I think Kelly's decision aid which has been focussed on Lynch Syndrome, I think that can be translated across lots of other genetic conditions, because for each gene there is a different set of decisions.  For some of the genes that we developed clinical guidelines for we might be recommending slightly different management or for some of the genes we've recommended maybe a minimum and an extended level of surveillance, particularly for a gene called DICER1 where we've offered different options in childhood.  Decision aids would potentially help in some of those other genes building on the work that's already been developed as part of the programme.  Although the programme is coming to an end in the next year, I think there's still lots of work to be done in this area.   Amanda: It really sounds like you've all been collectively improving how much this work is worthwhile, so that's great to hear.  Rochelle, how about for you, are there areas that you would see as unmet needs or areas where we or research can improve to help patients and families with inherited cancers.  Rochelle: Similar to some of the stuff that Helen was saying, knowing more about what happens when people have different types of treatment, different types of surveillance and monitoring and stuff like that, I think there are things that are evolving all the time.  I think in the end when you think about gaps, there's nothing that's going to be written down on paper that says if you have this, do this.  In the end, every single patient is an individual with individual circumstances.  I think until we actually know that if you do this, this happens and this happens, this is going to be your chances of survival if you go through this route.  Even then when you've got the chance of survival, that's literally just a probability, it's not a binary this will happen or that will happen.  There's always going to be a need for discussion, there's always going to be a need for these brilliant genetic counsellors that we have to talk us through some of those complex decisions that we have to make.  I think, yes, we'll get more information, we'll get more evidence, we'll get more understanding of treatments that work best for different people, and we'll get it out there and we absolutely do need to do that.    Even when you have all the information you need, even if you made a solid decision, I mean, when I found out I had the mutation immediately I was like, right, that's it, I'll have preventative surgery after what happened to my mum.  It was an absolute no-brainer for me.  For other people it might not have been if they were at a different life stage.  I'd had my kids, I didn't need my ovaries, I didn't need my womb, it was pretty clear cut.  Even then when I was thinking about the different treatment and when to have that surgery, I got most of my information from bumping into somebody in the ladies' toilets who has been through it before.  I think there's always going to be a need in terms of being able to have those conversations to take in all the information you do that and make some sort of informed decision.  What came out of that decision-making workshop and all the other things that we did about probabilities, it's all just a model.  It's a model of what might happen.  The thing is, all of these models, they're all wrong, they just help you maybe make a discussion or a decision that might be right.  You just never know.  I still don't know if the decisions I made were the right decisions either.  There needs to be that space for people to consider their options, you're never going to get the definitive answer.    Amanda: An important message there.  We talk a lot about using digital tools to be able to do things better at scale, better ways to give information, but I think what you're saying is we can't replace certain elements of human connection, we can't underestimate the value of that.  You made a really good point earlier as well about how so many of these decisions have uncertainty and it can be really difficult to navigate the complexities of a health system.  Perhaps even more challenging if you have struggles with health literacy or if you are an underserved group in some way or another.     Kelly, I think you mentioned that some of your research has also touched on developing information for underserved groups.  Can you tell us a bit more about that?  Kelly: We recognised that there are many underserved groups that are not represented in research, in literature, and applied for additional funding to do some specific targeted projects in the community.  There were a couple of examples I can mention.  One was inspired by colleagues at the Royal Marsden who made some videos about prostate screening and the had black men and their family members talking about this in a relaxed barber's shop setting.  Through reaching out into the community I was connected with Lee Townsend from Macmillan who's been making these barbershop videos around London for the last seven years.  He's focussed on a number of topics like mental health, vaccination and cancer.  We connected and it was really about making that connection in the community, him as a trusted leader, and having formed partnerships with some of the barbers who opened up their barbershops for filming these sessions and went way beyond that.    One of them has actually trained as a counsellor himself because he said men are coming for a haircut and actually they have a bald head, they don't need the haircut, they're coming actually for the chat.  Because it's benefitting their mental health and they felt able to open up about topics that they wouldn't talk about even at home with their family members or with their friends, such as symptoms of cancer, going for cancer screening or presenting for treatment if they were symptomatic.  It's really powerful.  We've actually filmed six videos with black and minority ethnicity patients, talking about their cancer experience and they've really both helped others by setting an example that it's okay to talk about these things.  Also, through the process an added benefit was helping themselves, so it was peer support.  When they came to the barbershop to film their stories, they didn't need to stay for the whole time but they did stay for the three hours.  They said afterwards how helpful it was just to hear others in a similar situation sharing their stories.  One of them told me he's got up on stage and shared his cancer journey and he's been going to these patient groups and talking when he didn't feel able to do that in the past.  It's been a great project and we're going to be adding the videos to the CanGene-CanVar patient decision aid website soon.  Another thing that we've done in the diet and lifestyle section of the website where it talks about things that people might do to lower their chances of getting cancer have partnered with Professor Ranjit Manchanda who had some colleagues in India and made some infographics that specifically depict patients of a South Asian heritage and the types of foods that they might be choosing to give examples of how they might for example try to get more fibre in their diet to lower the chances of getting bowel cancer or trying to eat more fruits and vegetables or drink less alcohol.  It shows images of Indian patients.  What people have told me in my research, my interviews, focus groups, is they tend to go and try to search for something that means something to them, so they're looking for someone like me.  One of the patients I filmed she said that she had breast cancer as a young black woman and she was only middle-aged women on the websites.  She thought why is this, do black women not get breast cancer or young women like me?  For her to share her story was very brave but also has the potential to help a lot of other people in the community.   Amanda: That's really powerful, so understanding those nuances in different cultures or communities or groups is just so crucial to really being able to also develop information or messages or provide care that's going to really reach those people where they are, I guess.  This has been a really fantastic conversation.  If we could end with a final question, it would be great to hear from your perspective just one thing that you'd like to see in the next five to ten years when it comes to care for inherited cancer susceptibility conditions.  Helen, let's start with you?  Helen: I think that in developing the guidelines one of the things that we've had to struggle or grapple with is a lack of evidence and the lack of the data that's available for some of these conditions.  I'm really hoping that over the next five to ten years that we will see much more data on cancer risks and outcomes of surveillance progress for people who have an inherited predisposition.  Then we can utilise that information to be able to share with patients to enable them to make best decisions about their care.  There's a number of initiatives that are currently underway thinking about how we might better collect data on patients with inherited cancer predisposition in the UK, through registries, so I am really hoping that we manage to get some useful data that we can then use in our discussions with patients going forward.  Amanda: Thank you.  Kelly?  Kelly: I think that over the next five to ten years as awareness and availability of genetic testing continues to increase, we know that there will be more and more families identified who have a higher genetic risk of getting certain cancers.  We can't replace that personalised counselling that takes place, face-to-face or sometimes telephone and video appointments with a healthcare profession.  So there are more resources needed for the NHS to deliver this.  To compliment that, the patient website decision aid that we have co-designed is one way to help.  What patients tell us they would like, access to a central trusted source of information that's up to date.  Importantly in genetics it's very fastmoving, there's a lot of research, guidelines are changing, and it's very crucial to have information that's correct and relevant for people, and also meaningful.  We can only do that by partnering together with patients and co-designing things rather than designing them and asking them afterwards if they're useful.  It's a partnership all the way through that we all benefit from.    As I said earlier, it's not a one-size-fits-all, decision-making is so personal and shared decision-making is recommended but we don't always have enough time in clinic to really address all of the issues that the patient might not have even thought about themselves.  Having something like a patient-facing resource website booklet that they can look at in their own time, prepare for their questions that they really want to focus on in clinic, it might help give them the confidence to bring something up that they might not have otherwise.  It's about a number of different ways of helping to support people.  We've identified that there are gaps in care that we could try to help address if we have more resource in future.  Those are my aspirations.  Thank you, Amanda.   Amanda: Thank you.  And Rochelle, to you?  Rochelle: I think for me I would like to have as many people as possible to understand or know about their genetic mutation status.  We know people don't even know about the fact that they may have a genetic mutation that may make them more susceptible to cancers, and we know that even then if you do can you get access to testing to know whether you've got it or not.  That is the most important thing.  My mum, if she'd known that some of this was related, if she'd had that awareness that breast and ovarian cancer in your family was related to potential genetic risk, maybe she would have pushed harder to get testing and maybe she wouldn't have been tested when it's too late.  In the end, all this knowledge and empowering people with knowledge, whether that be about empowering people with the knowledge that they may have a genetic mutation, there's a possibility of the genetic mutation, that these things are related and empowering people through the knowledge of knowing their genetic mutation status, all that is something that saves lives.  From my view, it undoubtedly probably has saved my life and so my hope for the future is that we can empower more people like me and we can save more lives.   Amanda: Thank you for our guests today Dr Helen Hansen, Rochelle Gold and Kelly Kohut.  If you enjoyed today's episode, we'd love your support.  Please subscribe to The G Word on your favourite podcast app and like, share and rate us wherever you listen.  I've been your host, Amanda Pichini.  This podcast was edited by Mark Kendrick at Ventoux Digital and produced by Naimah Callachand.  Thanks for listening.     

Teaching and Learning: In the Lab featuring Chetan Bettegowda, MD, FAANSDr. Chetan Bettegowda is currently the Jennison and Novak Families Professor of Neurosurgery and Oncology and Vice Chair for Research in the Department of Neurosurgery at the Johns Hopkins University School of Medicine. His clinical focus is on the surgical management of brain tumors and directs and metastatic brain tumor center, meningioma center and trigeminal neuralgia. He directs the Reza Khatib Brain Tumor Center and the Physician Scientist Training Program at Johns Hopkins. As Medical Director of the Ludwig Center for Cancer Genetics and Therapeutics, his laboratory efforts have focused on the applications of cell free tumor derived DNA for the early detection and monitoring of a myriad of cancers. His research has been funded by the Burroughs Wellcome Career Award for Medical Scientists, Doris Duke Clinician Scientist Award, Department of Defense and the National Cancer Institute. He has been recognized with numerous awards including being named the 2022 William Baumgartner Johns Hopkins Physician of the Year. He has published widely with over 250 articles including in journals such as Science, Science Translational Medicine, Nature Genetics, Nature Communications, Cell Reports Medicine and PNAS. 

Welcome to Episode 25 of The Oncology Podcast's Experts On Point series, brought to you by The Oncology Network. Join us as we continue our exploration of the complex and fascinating world of cancer genetics.Our Host Rachael Babin is joined by Dr Hilda High, genetic oncologist from Sydney Cancer Genetics. In this second part of the masterclass, we discuss the practicalities of cancer genetics. Including FAQs from healthcare professionals, ancestry genetic tests, insurance coverage, lifestyle factors and communication skills tips for oncologists. We hope you enjoy listening.For news and podcast updates subscribe to The Oncology Newsletter,  a free weekly publication for healthcare professionals with an interest in oncology. Click here to subscribe.PART OF THE ONCOLOGY NETWORK... Join Us

Welcome to Episode 24 of The Oncology Podcast's Experts On Point series, brought to you by The Oncology Network. Join us as we dive into the complex and fascinating world of cancer genetics.Our Host Rachael Babin is joined by Dr Hilda High, genetic oncologist from Sydney Cancer Genetics. In this first part of the masterclass, they discuss where genetic mutations come from, genetic testing approaches, the differences between germline and somatic tests, and what someone can do if they find out they carry a genetic mistake. We hope you enjoy listening.For news and podcast updates subscribe to The Oncology Newsletter,  a free weekly publication for healthcare professionals with an interest in oncology. Click here to subscribe.PART OF THE ONCOLOGY NETWORK... Join Us

Join Patrick Short and Professor Clare Turnbull, Professor in Translational Cancer Genetics at the Institute of Cancer Research, as they discuss polygenic risk scores and their application in healthcare. Delve into the complexities of predicting disease, the challenges of screening programs, and the potential impact of integrating genomics into healthcare systems. Discover the limitations and potential of polygenic risk scores and gain valuable insights into the future of personalized medicine. 0:00 Intro 1:00 Clare's path to becoming a clinical geneticist and her research in uncovering genetic links to cancer 3:20 How do Polygenic Risk Scores help to predict disease, particularly breast cancer? 10:00 The influence of environmental and genetic effects on breast cancer presentation 11:30 Next clinical steps after determining genetic risk for breast cancer 17:30 How effective and accurate are polygenic risk scores in predicting various types of cancer, given the potential for false positives or negatives? 25:00 The potential for integrating genetic screenings and polygenic risk scores into early cancer diagnosis 27:20 How do monogenic risk scores like BRCA 1 and 2 fit into the paradigm of cancer research? 31:30 Using both monogenic and polygenic to explain population prevalence of disease 35:00 Integration of genomics and genetic screenings into the UK healthcare system 40:30 What comes after the genetic test? What is the use in identifying risk for a disease if nothing is subsequently done to prevent it? 44:50 Clare's upcoming work in remodeling NHS systems for evidence protocols and clinical use of genetic tests 46:50 Closing remarks

Join Patrick Short and Professor Clare Turnbull, Professor in Translational Cancer Genetics at the Institute of Cancer Research, as they discuss polygenic risk scores and their application in healthcare. Delve into the complexities of predicting disease, the challenges of screening programs, and the potential impact of integrating genomics into healthcare systems. Discover the limitations and potential of polygenic risk scores and gain valuable insights into the future of personalized medicine. 0:00 Intro 1:00 Clare's path to becoming a clinical geneticist and her research in uncovering genetic links to cancer 3:20 How do Polygenic Risk Scores help to predict disease, particularly breast cancer? 10:00 The influence of environmental and genetic effects on breast cancer presentation 11:30 Next clinical steps after determining genetic risk for breast cancer 17:30 How effective and accurate are polygenic risk scores in predicting various types of cancer, given the potential for false positives or negatives? 25:00 The potential for integrating genetic screenings and polygenic risk scores into early cancer diagnosis 27:20 How do monogenic risk scores like BRCA 1 and 2 fit into the paradigm of cancer research? 31:30 Using both monogenic and polygenic to explain population prevalence of disease 35:00 Integration of genomics and genetic screenings into the UK healthcare system 40:30 What comes after the genetic test? What is the use in identifying risk for a disease if nothing is subsequently done to prevent it? 44:50 Clare's upcoming work in remodeling NHS systems for evidence protocols and clinical use of genetic tests 46:50 Closing remarks

Every child inherits a set of “germline” DNA from each of their biological parents. At times there are also mutations that are passed down. This differs from what are referred to as “somatic” mutations that are only present in cancer cells, but not in every cell in the body. Environmental factors can also contribute to the development of cancers. Knowing your family history and genetic makeup can help in understanding overall cancer risk, recommended screening and prevention strategies, as well as treatment approaches if diagnosed with cancer. Guests: Ravi Sharaf, MD, MS, Director of Clinical Cancer Genetics at Weill Cornell Medicine Host: John Leonard, MD, a leading hematologist and medical oncologist at Weill Cornell Medicine and NewYork-Presbyterian Hospital

Swiss psychiatrist and psychoanalyst, Carl Jung wrote: “They do not deceive, they do not lie, they do not distort or disguise … They are invariably seeking to express something that the ego does not know and does not understand.” The founder of analytical psychology saw dreams as the psyche's attempt to communicate important things to the individual, and he valued them as a way of knowing what was really going on.In this episode Brooke and Noa interview Dr. Heather Sharfi, a biochemist, life coach, fertility specialist and a subconscious enthusiast about dreams; the repair mechanism of the brain.Together we discuss:1) Repeated dreams2)  Common symbols3) Lucid Dreamers and so much more!!About Heather:Heather has spent years studying new therapeutic ways to treat diseases, such as Cancer and Diabetes. She holds a Doctorate degree in Cancer Genetics and Cancer biochemistry and a Master degree in Cellular Metabolism. She uses a naturalistic approach, such as dream-work, somatic-work, mindfulness and talk-therapy in order to help her clients heal and feel whole. She is an expert in the Fertility field and has helped numerous couples throughout their infertility journey. Heather's belief is that a more holistic approach to life, which takes into consideration the physical, emotional, social and spiritual wellbeing is needed today, and she made it her life-mission to make it accessible to all.To learn more about Heather's work, please go to:The Dream Catchers Facebook group link:https://www.facebook.com/groups/423076715847909/Eve fertility website link:www.eve-fertility.comEve Fertility Instagram's account link:https://www.instagram.com/evefertilitylife/Sign up to Noa's NEW 360 Wellness course and receive a 15% coupon code when you mention Raising the New Earth Podcast! Click the link here: https://naturallynoa.com/coursesWe thrive in community - and we'd love you to be part of ours!Join the conversation @raisingthenewearth on IG , YouTube- or all other podcast platforms and learn more at www.raisingthenewearth.comDISCLAIMER: By watching/listening to this post including but not limited to video, text, reel, audio, (“Post”) you understand and agree to the following: This Post is for General information purposes ONLY. We are not liable for any loss, death, property damage, or bodily injury, based on your use or interpretation of the information in this Post. This Post should not be construed as a promise of benefits, a claim of cures, or a guarantee of results to be achieved.

“It's very easy to sit and read a recipe but the key is not going on a diet— you really need to adjust your way of life." —Stephen Freedland M.D. Eating healthy is not just about looking good, it is also about feeling good. Food has been used as medicine for centuries, and with the right knowledge and eating habits, we can use food to heal ourselves.  This week, Dr. Stephen Freedland delivers compelling reasons we must rethink our eating habits and lifestyle. Dr. Freedland is a leader in the field of urology, with expertise in the diagnosis and treatment of benign prostatic hyperplasia (BPH) and prostate cancer. He has contributed significantly to cancer prevention and awareness through a patient-centered approach that focuses on understanding the whole person rather than just the disease.  Join in as Dr. Freedland outlines a decade worth of research on how carbohydrate affects tumor growth, the challenges of conducting a clinical trial, how a personalized lifestyle can make greater impact, how we can gain more control over our health journey, and what can help us make better choices not only for our health but for our future.    Meet Stephen: Stephen Freedland, MD, is the director of the Center for Integrated Research in Cancer and Lifestyle, co-director of the Cancer Genetics and Prevention Program, and associate director for Faculty Development at the Samuel Oschin Comprehensive Cancer Institute. He is a faculty physician in the Division of Urology at the Cedars-Sinai Department of Surgery. Freedland's clinical expertise focuses on urological diseases, particularly benign prostatic hyperplasia, and prostate cancer. His approach toward cancer prevention and awareness focuses on treating the whole patient, not just the disease, by combining traditional Western medicine with complementary holistic interventions. His research interests include urological diseases and the role of diet, lifestyle, and obesity in prostate cancer development and progression, as well as prostate cancer among racial groups and risk stratification for men with prostate cancer.    Freedland has published over 400 studies, and his research has appeared in the Journal of the American Medical Association, Journal of the National Cancer Institute, Journal of Clinical Oncology, Journal of Urology, Cancer Prevention Research, Cancer and BJUI, among others. Freedland is an active reviewer for more than 50 journals. He sits on the editorial board for Cancer Prevention Research, European Urology, International Journal of Urology, Nature Reviews Urology and BJUI, and serves as editor-in-chief for Prostate Cancer and Prostatic Diseases and as a consulting editor for European Urology. Freedland earned his MD from the University of California, Davis. He completed a residency in urology at UCLA and a fellowship in urological oncology at Johns Hopkins. Before joining Cedars-Sinai, he was at Duke University, where he specialized in surgical oncology and urologic oncology, and served as an associate professor in the Division of Urology. Twitter  LinkedIn   Connect with Cedar-Sinai Medical Center:  Website Facebook  Twitter Instagram LinkedIn  YouTube Connect with NextGen Purpose: Website Facebook Instagram  LinkedIn YouTube Episode Highlights: 01:00 The Link Between Food and Cancer 06:49 Carbohydrate and Tumor Growth 12:15 Measurable Outcomes 16:25 Personalizing Lifestyle 22:06 Be an Active Participant in Your Health Journey 30:33 Make Better Choices  

Global Health and Oncology with guest Dr. Donna Spiegleman February 12, 2023 Yale Cancer Center visit: http://www.yalecancercenter.org email: canceranswers@yale.edu call: 203-785-4095

Global Health and Oncology with guest Dr. Donna Spiegleman February 12, 2023 Yale Cancer Center visit: http://www.yalecancercenter.org email: canceranswers@yale.edu call: 203-785-4095

Perimenopause is such an important time to continue with and/or start preventative cancer screenings:  mammograms, pap smears, colonoscopies and skin checks to name a few.  Did your mom, dad, sibling or close relative have a cancer diagnosis and you're afraid the "c" word runs in your family.  Should you get screenings earlier than suggested?  How do you know when to have a conversation with your doctor?  Christen and Carla speak with board certified genetic counselor, Hetal Vig, on today's episode to find out all about cancer risk and genetic counseling.  Why is genetic counseling important?  Who should be counseled?  What should you do with the information if you get tested?  If you've ever asked yourself these questions or are curious about genetic testing, this is an episode for you!  We hope you enjoy listening to this conversation with Hetal--she's a fountain of knowledge and breaks it down for us to make sense of it all! You can contact us at perrymenopauseomg@gmail.com and follow us on Facebook and Instagram @perrymenopauseomg! As always, if this episode resonates with you please give us a follow, share with your friends, like, rate and review to help us spread the word and continue talking about all the important issues during this phase of life!  Enjoy! xo C&C --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app Support this podcast: https://anchor.fm/perrymenopause/support

As part of the 2022 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses the role of genetics and genomics in prostate cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Education] [Show ID: 38560]

As part of the 2022 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses the role of genetics and genomics in prostate cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Education] [Show ID: 38560]

As part of the 2022 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses the role of genetics and genomics in prostate cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Education] [Show ID: 38560]

As part of the 2022 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses the role of genetics and genomics in prostate cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Education] [Show ID: 38560]

As part of the 2022 Prostate Cancer Patient Conference, Dr. Jonathan Chou discusses the role of genetics and genomics in prostate cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Education] [Show ID: 38560]

In this week's conversation, we speak with Dr. Elaine Ostrander about all things dogs and why they look like they do. In layman's terms, Dr. Ostrander explains how dogs don't often look like their closest genetic relatives, the wolf. She answers the long standing question and for us the mystery, of how Freddy the Great Dane doesn't look like Franky the Dachshund. We might even have those fancy Victorians to thank for it. Kindred is hosted by Kate Coffin and Jenn Asplundh. Please find out more info and message us at kindredpodcast.co. Follow Us Instagram @thekindredpod Facebook @thekindredpod Support us at Patreon/kindredpodcast Please follow, rate, and review. Thanks.

Dr. Shannon Westin and Dr. Mustafa Raoof discuss the paper "Medicare Advantage: A Disadvantage for Complex Cancer Surgery Patients" TRANSCRIPT Dr. Shannon Westin: Well, hello, everyone, and welcome back to another episode of the JCO After Hours podcast, where we get in-depth on articles that have been published in the JCO. I am your host Shannon Westin, and it is my pleasure to serve as the Social Media Editor for the Journal of Clinical Oncology, as well as a Professor in GYN Oncology at The MD Anderson Cancer Center in Houston. And today, I am very excited to be discussing a paper that was recently published in the JCO called “Medicare Advantage: A Disadvantage for Complex Cancer Surgery Patients.” And I am accompanied today by Dr. Mustafa Raoof, and he has no conflicts of interest to disclose. He is an Assistant Professor in the division of Surgical Oncology, Department of Surgery, and an Assistant Professor in the Department of Cancer Genetics and Epigenetics at the City of Hope Cancer Center. And there, he is a Surgical Oncologist with expertise in hepatobiliary and pancreatic cancer, and I'm thrilled to have him here today. Welcome, Dr. Raoof. Dr. Mustafa Raoof: Thank you. It's a pleasure to be here. Thank you for inviting me. Dr. Shannon Westin: Of course. And thank you for your incredible work. We're going to get right to it. This is, I think, a really timely and important paper because I think we are always trying to understand how the insurance coverage or the medical coverage that our patients have here in the United States impacts their overall quality of care. So, first, let's level set for the audience. Can you describe the basics of Medicare Advantage, which is what you explored in this paper, and how common is this coverage in the United States? Dr. Mustafa Raoof: So, Medicare Advantage is the privatized aspect of Medicare, and what we know is that since the 1970s there were some private plans that were part of Medicare. But really at the turn of the century, 2000 and onwards, Medicare Advantage has gained a lot of popularity. And this is where the government basically pays a lump sum cost for a beneficiary to private insurance companies to manage Medicare. And so, it's a privatized product. And the idea there is that it's supposed to be an all-encompassing product for the beneficiaries, and the biggest advantage, initially at least, was that there was an out-of-pocket maximum, so patients are not subjected to extreme financial stresses. The cost that was paid to Medicare Advantage plans per beneficiary were in the order of somewhere between 800 and $900 per beneficiary, per year. This was a little bit higher than what would have been the cost to Medicare, but that was to gain a lot of momentum into getting the private insurance interested in the plan. And then subsequently into that, there were a lot of incentives that were set for these Medicare Advantage plans based on some measures of quality, to kind of incentivize the quality products from this private insurance. And so, that's kind of the lay of the land for what the Medicare Advantage plans are. Now, in terms of, how popular are they? I think this has grown significantly over the last 10 years, especially, 46% of all Medicare beneficiaries nationally are part of this Medicare Advantage plan, and it's not one plan, every private insurance company has their own offerings. But a significant majority, I think it's estimated that more than half, and even, you know, going beyond 10 years, the majority of Americans will be insured by these Medicare Advantage plans. Dr. Shannon Westin: That's incredible, and certainly, that means this work that you did has such great impact with the number of patients that are going to be impacted. Can you give the listeners a little bit of an idea of how Medicare Advantage coverage might differ a little bit from the traditional? I know you mentioned the out-of-pocket costs, and that it's run by different companies, but any other kind of discerning features? Dr. Mustafa Raoof: Yeah. So, with the Medicare Advantage plans, as I mentioned, you know, there's an out-of-pocket maximum. In addition, vision and dental plans, as well as gym memberships are included as part of the plan, to kind of provide a holistic plan to the older Americans. And then, one of the things that kind of stands out is that what is the downside to Medicare Advantage plans from a company that is providing this kind of a product, and so, they have to cut costs somewhere. So, I think the main downside to patients would be that their options, in terms of specialist care, will be limited because the networks are generally narrower. There is a variability in different plans as to how big and small their networks are, but they could be more restrictive, and if a potential beneficiary is not aware of that, they could lose out on seeing some doctors that they would've otherwise wanted to see. Dr. Shannon Westin: Okay. That totally makes sense. And so, I guess the next natural question is, what led you to explore the impact of this coverage Medicare Advantage on patient outcomes in surgical practice? Dr. Mustafa Raoof: Yeah. So, as somebody who sees patients with advanced cancer, I think a lot of Medicare Advantage beneficiaries are caught by surprise at the time when they're seeking out care, and they think that they have Medicare, and they should be able to seek whatever care that they would like. Whereas, you know, when they contact their provider, they're told that they have to go to a certain doctor in a certain network. And the shock that this is, as a secondary shock, in addition to the shock of a cancer diagnosis and needing a surgical intervention. So, early on in my training, I had seen some of that, and, you know, I really wanted to delve deeper into helper based problems, is: does it even matter if they go with different specialists, as long as there is some quality to that? And so, I started looking into the quality of the Medicare Advantage network from there on. Dr. Shannon Westin: That leads us directly into your study. Why don't you give us a rundown of the design, and how you wanted to achieve those objectives that you just discussed? Dr. Mustafa Raoof: So, leading up to the study, we had a publication in Annals of  Surgery that looked at what do the networks look like for these Medicare Advantage plans. And that kind of information is hard to find. As you could tell, a lot of patients don't even know if a certain hospital will be covered by their insurance. And so, through a collaboration with Gretchen Jacobsen who studies this as well, they had compiled data on the networks for different hospitals, and for different plans in LA County, as to which hospitals were covered. So, we looked at that, and we found that a lot of these Medicare Advantage plans don't have access to high-volume hospitals, which was our way of measuring quality. And so, that kind of set the tone for this, and then we wanted to ask if there is a difference in outcome between patients who are insured by Medicare Advantage versus those who are insured by traditional Medicare. Medicare Advantage data has been a little bit tricky to obtain for a lot of folks that I think it wasn't released because of data quality issues. We were a little bit lucky, in that we had access to the California Cancer Registry dataset, which includes all patients diagnosed with cancer in California, and that data was linked to discharge data from inpatient hospitalizations. And so, one of the categories that is collected is patients' insurance, whether it's Medicare or not, and whether it's managed or not. So, with that, we thought it was the perfect opportunity to ask a very simple question, and that question is, what are the differences in terms of access to high-volume surgery or quality cancer surgery, and what are the impacts on the outcome for the two different kinds of insurance plans? So, the design is a retrospective cohort analysis, and we included all patients who were undergoing elective inpatient cancer surgery. We selected some index cancers, and we realized that it's not comprehensive, but we wanted to give it a go with some of the more common cancer diagnoses. So, we included lung, colon, and rectal, and then we also included some high complexity operations such as esophagus, stomach, pancreas, and liver, and we included all data from 2000 to 2020. And in terms of the primary objective of the study, we wanted to look at hospital mortality, so we looked at the association between 30-day hospital mortality, but we also looked at complications, readmissions, and failure to rescue. One of the other objectives of this study was to look at the association between insurance stipend, access to care-- we defined access to care in several different ways. Because there's no singular definition, we said access to care would be somebody getting access to cancer surgery at a Commission on Cancer-designated hospital, or NCI-designated cancer center, or a high-volume hospital, as defined by other authors previously, or a teaching hospital. So, we used several different definitions to kind of see if there is association between insurance and patients' access to care. Dr. Shannon Westin: And let's hear it. What were the results? How did Medicare Advantage compare to traditional Medicare? Dr. Mustafa Raoof: Given our previous work on MA networks data, this was not a surprise, but when we saw that for all of the cancers that we looked at, there were significant barriers to access, in terms of getting to an NCI-designated cancer center, or a high-volume cancer center. So, no matter how we looked at it, we felt that there was a significant disparity in getting to these specialist hospitals, which we associate with quality of cancer surgery. But what was interesting in a major finding of the paper was that for certain cancers, for example, gastrectomy, pancreatectomy, and hepatectomy, we found significantly increased early-day mortality for those operations. And so, for example, for gastrectomy, there was 1.4-fold higher mortality, for pancreatectomy 1.9-fold, and then for hepatectomy, 1.4-fold. So, these are tangible figures in-- you know, the idea is that if somehow  we can improve access to high-quality surgery within MA plans, to match that of traditional Medicare, which is not ideal still, but I think just by doing that, we could impact, potentially reduce cancer deaths from surgery itself. Dr. Shannon Westin: So, I was struck by the fact that there was a difference between the outcomes you mentioned - stomach, pancreatic, liver surgery, and colon cancer. You know, why do you think there might be a difference? Dr. Mustafa Raoof: That's a great question. So, I think colon cancer surgery has-- I wouldn't say it is low-complexity, but it's intermediate-complexity. And I think as a surgical workforce, a lot of surgeons who may or may not be trained with fellowship specialization, they are able to do a really good job of colon resection, and so, there are many high-volume surgeons that do not actually sit in NCI-designated cancer centers or CoC-accredited hospitals, and they're doing a really good job. And so, I think we see that the impact of access is less in colon surgery, and I think that may explain why that is. Dr. Shannon Westin: We've looked at this, and I know you said that you picked some common cancers, and I know you did that because, you know, I'm a GYN Oncologist, so I was definitely interested in outcomes here. We definitely see that, in especially ovarian cancer surgery, which is rare, is that high-volume centers matter. And it can be a comprehensive cancer center, or it can just be a really high-volume center that draws a lot of ovarian cancer, it doesn't necessarily have to be a cancer center. So, that certainly makes a lot of sense. I guess the next question really is what happens next for this work? Like, what can we do to make a difference here? Dr. Mustafa Raoof: So, just reading the landscape on health insurance, I think there's significant incentives for Medicare Advantage plans. So, I think that is going to exist, and I think that will be in the future. I think the important aspect will be to ensure the quality of Medicare Advantage plans. And I think the data that is presented in this study, we hope that it will shed some light, and give a voice to patients who are dealing with a situation where they need complex cancer surgery. And we also hope that there would be some transparency when patients are signing up for the insurance plans, they should be able to say, "Okay, well, with the Medicare Advantage plan, we are getting this quality of cardiac care, this quality of cancer surgical care", and I think that should be an important component. You know, some Medicare Advantage plans may excel in one aspect of care, for example, you know, Alzheimer's care or cardiac care, but may do poorly in cancer surgery care, or cancer care in general. So, I think those are some of the things that the policymakers will need to balance and incentivize. Medicare Advantage plans are really great at cutting utilization because they manage healthcare effectively, but it does introduce some sort of inefficiencies in the system where everything requires a prior authorization; a lot of physicians are familiar with that - a patient needs life-saving surgery, and the authorization is nowhere to be found for two, three weeks, four weeks, and that's a really difficult problem for the patient to go through, and their caregivers. It's a difficult time for them. So, I think those inefficiencies can be mitigated as long as those who require cancer surgery are seen as a distinct population who need timely access to high-volume surgery. I think modifying MA plans in a better way to reflect that, will be the future. Dr. Shannon Westin: Yeah. We've seen this come up on the podcast multiple times as we're talking about inequities and quality of care. You know, it's on us as physicians and practitioners to interact with our policymakers. We've not always been really good at that, but I think this type of work that you've done really helps us have that objective data that we can bring to these policymakers so this change can be enacted. Well, thank you so much, Dr. Raoof. We really appreciate you taking the time being on the podcast. And again, for our listeners, this was a discussion of “Medicare Advantage: A Disadvantage for Complex Cancer Surgery Patients,” and we were with the first author, Dr. Mustafa Raoof. Please make sure you check it out, and please feel free to check out our other podcasts on the JCO website. Until next time, this has been Shannon Westin, with JCO After Hours. Have a great day.   The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience, and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy, should not be construed as an ASCO endorsement.  

Dr. Will Parsons is an Associate Professor of Pediatrics in the Division of Hematology-Oncology at Baylor College of Medicine. He also serves as the Director of the Baylor Pediatrician-Scientist Training Program, Director of the Center for Personal Cancer Genomics and Therapeutics, and Co Director of the Neuro-oncology and Cancer Genetics and Genomic Programs at Texas Children's. Sr. Parsons earned his MD and PhD from the Ohio State University, did his residency in pediatrics at Johns Hopkins, and a clinical fellowship in hematology-oncology at the national cancer institute followed by a fellowship in neuro-oncology at Johns Hopkins. Today, Dr. Parsons shares his personal and professional journey to becoming a pediatrician-scientist and discusses the role for physician-scientists and PSTPs in pediatric medicine. Credits: Our thanks to Dr. Parsons for being on the podcast. Dr. Parson's Faculty Page: https://www.texaschildrens.org/find-a-doctor/donald-williams-will-parsons-md-phd Host: Bejan Saeedi Executive Producers: - Bejan Saeedi - Joe Behnke - Michael Sayegh - Carey Jansen Faculty Advisors - Dr. Mary Horton - Dr. Brian Robinson Twitter: @behindthescope_ Instagram: @behindthemicroscopepod Facebook: @behindthemicroscope1 Website: behindthemicroscope.com

On this episode Dr. Motley teaches us how hormones are made and detoxed in the body. You will learn the impact of nutrients and genetics as they relate to hormone production and their relationship to other systems in the body. This mini-teaching is a deep dive into estrogen driven cancers and will guide you through ayurvedic and traditional chinese medicine remedies that support healthy hormones.

We have two special announcements!Next episode we will be celebrating a decade of DNA Today! That's right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That's why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to info@dnapodcast.com. Deadline is August 27th.Thank you to all you listeners for nominating us in the Podcast Awards, you did it! We have officially been nominated. It's year number 6 being nominated and it might be our third time winning the Best Science and Medicine Podcast Award. BUT that's only going to happen if you check your email inbox for an email from The Podcast Awards with the subject line, “Podcast Awards Final Slate Voting”'. If you got this email you are one of the few that were selected to be a voter. It's imperative that you vote! There is a hyperlink to click to get to the voting page. You do have to quickly log back in. Once you do, select DNA Today in the “Science and Medicine category”, select your other fav podcasts and then Hit the “Save Nominations” button. It's that easy. You have until September 10th to do this, but please do it now if you got the email so you don't forget! In this episode we are educating you about prostate cancer as we are on the cusp of prostate cancer awareness month starting next week. Joining us for this discussion is Dr. Heather Cheng, Director of the Prostate Cancer Genetics Clinic at the Seattle Cancer Care Alliance, Assistant Professor in the Division of Medical Oncology at the University of Washington School of Medicine, and Associate Professor in the Clinical Research Division at the Fred Hutchinson Cancer Research Center. She focuses on improving the care of patients with prostate and bladder cancers. An expert in prostate cancer genetics, she is studying ways to use genetics to guide the care of prostate cancer patients and their family members who may also be at high risk for the disease.On This Episode We Discuss:The prevalence of prostate cancerSigns of hereditary prostate cancer in family historyProstate Cancer Registry of Outcomes and Germline Mutations (PROMISE)The goals of PROMISEWho is eligible to enroll in PROMISE and what is requiredThe most common genes that are identified as having a pathogenic variantCurrent treatments available for people with prostate cancerThe lifetime risk of prostate cancerTo learn more about the PROMISE study, visit the study website and check out thisarticle!You can keep up with our guest, Heather Cheng on Twitter, and LinkedIn, and stay up to date with the latest developments in prostate cancer research by following the Prostate Cancer Foundation on Twitter and ​​LinkedIn, and Instagram.Next episode of DNA Today on September 2nd, 2022, we are celebrating 200 episodes and 10 years of the show! New episodes are released on Fridays. In the meantime, you can binge all our other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Dr. Ifey Stitt is a board certified OB-GYN dedicated to women's health, with special interest in genetics and education. She practices in Annapolis, Maryland and is affiliated with Luminis health where she serves as medical director for her group.

In the second podcast of the A Journey for Women of Color series, special guest moderator Kelly Swoope is joined by two Johns Hopkins Medicine experts to discuss the threat of colon cancer for women of color: colorectal surgeon, Dr. Alodia Gabre-Kidan and oncologist and Co-Director of Cancer Genetics and epigenetics, Dr. Nilofer Azad.

In this episode Dr. Slavin welcomes Dr. Judy Garber, Professor of Medicine at Harvard Medical School, Chief of Division of Cancer Genetics and Prevention at the Dana Farber Institute, and Susan F. Smith Chair. Together, they discuss the OlympiA study and outcomes that have influenced industry guidelines.

Finding out your genetic risk of different cancers can be an important part of life-saving early detection and preventative cancer care. But, which genetic screenings should patients look into and how far has this technology come in detecting which people are at higher risk of certain cancers?  https://muschealth.org/MUSCApps/ProviderDirectory/Hughes-Kevin- (Kevin Hughes, MD), has been at the forefront of genetic cancer screening since the mid-1990s and shares insights. He is the Director of Cancer Genetics in the MUSC Department of Surgery and the McKoy Rose, Jr., M.D. Endowed Chair in Surgical Oncology. 

In this episode, we discuss prostate cancer prevention.  Prostate cancer is the most common cancer in men and the second most lethal cancer in men in the United States.  But is there a way to prevent it?  Can lifestyle factors like diet, exercise, sexual activity, and even stress impact the development and growth of prostate cancer?  In order to answer those questions, we spoke to Dr Stephen Freedland, Professor of Surgery and Urology at the Cedars Sinai Medical Center in Los Angeles.  At Cedars Sinai, Dr Freedland serves as the Warschaw Robertson Law Families Chair in Prostate Cancer, the Director of the Center for Integrated Research in Cancer and Lifestyle and Co-Director of the Cancer Genetics and Prevention Program. Dr.  Freedland has published over 400 medical studies and sits on the editorial boards of multiple medical journals.  He currently serves as editor-in-chief of the medical journal Prostate Cancer and Prostatic Diseases .  Dr. Freedland completed his undergraduate studies at UCLA and received his medical degree from UC Davis.  He then completed his Urology residency training at UCLA and a fellowship in urologic oncology at Johns Hopkins.  Before joining Cedars-Sinai, Dr Freedland served as an Associate Professor of Urology at Duke University .