Podcasts about lynch syndrome

Dr. Jonathan Herman is a New York-based OB/GYN who has delivered over 12,000 babies and spent decades championing women's health. A leader in hereditary cancer screening, Dr. Herman is known for his work with BRCA and Lynch Syndrome, helping patients understand and manage their genetic cancer risk. He has delivered over 600 lectures nationwide, appeared on The Doctors, and served as a medical advisor on the documentary Inheritance, which follows three women navigating the impact of the BRCA gene.   CONNECT WITH DVORA ENTIN: Website: https://www.dvoraentin.com/ Instagram: https://www.instagram.com/dvoraentin YouTube: https://www.youtube.com/@misconceptionspodcast      

In this episode of The Real GI Doc Show, Dr. Gandolfo takes a moment to highlight an important guest appearance he made on The Positive Gene Podcast, hosted by cancer previvor and cancer prevention advocate Sara Kavanaugh, in honor of Colorectal Cancer Awareness Month. What is a "previvor" you may ask? A previvor is a survivor of a predisposition for cancer or another disease. In Sara's case that condition is Lynch Syndrome-the most common hereditary cancer predisposition syndrome. With colorectal cancer being the fourth most commonly diagnosed cancer and the second leading cause of cancer death in the United States, Dr. Gandolfo emphasizes the urgency of discussing this critical topic. During the episode, Dr. Gandolfo and Sara delve into various aspects of colorectal cancer, including: - The significance of understanding Lynch Syndrome, a genetic condition that increases the risk of several cancers, including colorectal cancer. - Preventative measures through diet and lifestyle that can help reduce the risk of colorectal cancer. - The concerning rise of colon cancer diagnoses among younger individuals and what symptoms to watch for. - The importance of timely screening and colonoscopy, especially for those with risk factors, regardless of age. Listeners will gain valuable insights into colorectal cancer prevention, the role of genetics in cancer risk, and practical advice for discussing symptoms and screening with healthcare providers. Tune into The Positive Gene Podcast to listen to the full 58-minute interview using the links below: Listen on Apple: https://podcasts.apple.com/us/podcast/the-positive-gene-podcast/id1708990295?i=1000699080929 Listen on Spotify: https://open.spotify.com/episode/53zke5DCLEehnLLLcM2x5P?si=c93068d7a1c549e8 Visit The Positive Gene Podcast page for all other ways to listen: https://thepositivegenepodcast.podbean.com/ Follow Sara Kavanaugh on Instagram https://www.instagram.com/positivegenepodcast/ --- Watch The Real GI Doc Show on YouTube! Click here! Be sure to subscribe to The Real GI Doc Show for more insights, and reach out with your questions on social media @realgidoc or leave an audio question for Dr. Gandolfo here. Find The Real GI Doc Show on social media, join the newsletter, read Dr. Gandolfo's bio, or ask a question using this link.  

I sit down with Dr. Matthias Kloor, Acting Medical Director Applied Tumor Biology at Heidelberg University.  We discuss the thought process followed by the hurdles faced in trying to get a Lynch Syndrome vaccine, through the phases, to potentially the proverbial bedside.  We discussed collaboration with the NCI in bringing this and other projects to market.  We also talk about the European Hereditary Tumor Group, whose conference this year is also in Heidelberg.  EHTG is a great group, one that has embraced the advocacy community, similar to CGAIGC and InSIGHT.  

The extraordinary story of siblings Pat Fahey and Ann Detar, who discovered each other and the presence of the 'faulty gene' named Lynch Syndrome, which increases certain types of cancer.

Screenings for colorectal cancer are very effective and save lives. “Since we started doing colonoscopy screenings in the mid-1990s the overall incidences for colorectal cancer have been coming down and down and down, and the number of deaths has been going down and down and down,” said Peter Stanich, MD, a James clinical associate professor of internal medicine and colorectal cancer specialist. In this episode, Stanich describes how lifestyle choices such as diet, exercise and obesity can impact the chances of being diagnosed with colorectal cancer. Inherited genetic mutations are another risk factor. “The risk for the average person with no family history [of colorectal cancer] is about 4 percent, but for someone with an inherited genetic mutation, such as Lynch Syndrome, that greatly increases the risk, to as much as 40 to 80 percent,” he said. For people with no family history of colorectal cancer, colonoscopy screenings are recommended to start at the age of 45. “For patients with Lynch syndrome we start screenings at around 20 or 25.” Colonoscopies can detect and remove pre-cancerous polys in the large intestine before they become cancerous. “We have tools that go through the scope, a snare, that can slice off the polyps, or forceps that can cut them off,” said Stanich, who does these procedures regularly. “It's very rewarding, that feeling of helping of helping multiple people every day from ever getting cancer.” Stanich also talked about screenings people can do at home, the increase in colorectal cancer diagnoses for younger patients and his research. It focuses on when to do follow-up screenings for patients detected with multiple polyps in their initial colonoscopy. “Only about 60 percent of people are up to date with their colorectal cancer screenings,” Stanich said. “If we could get another 20 to 30 percent of people up to date that would have a huge impact in reducing colorectal cancer.”

I sit down with Sandra and Javier Corrales, who share their Lynch Syndrome story.  Javier has been open with his diagnosis so his family can be proactive in their care.  Sandra, who has a history of cancer in her family as well, has been the  teammate in this process every step of the way.  With the Lynch Syndrome diagnosis, they now see a path forward.  They share how they deal with family, including the kids, and having age-appropriate conversations.  Besides participating in AliveAndKickn's Living with Lynch annual program, they coordinated a community discussion in Spanish, where participants from across the globe attended.    

Experienced nurse Claire Coughlan, clinical lead for Bowel Cancer UK, presents the NASGP's second webinar given at 1pm on Thursday 6 February.The main aims of the talk were to give an overview of:-Bowel cancer and the red flag symptoms.-Use of qFIT in symptomatic patients.-The bowel cancer screening programme.-The diagnostic pathway.-Lynch Syndrome.-Bowel Cancer UK support services for GPs and patients.Claire Coughlan is a consultant nurse in colorectal cancer with expertise in bowel cancer follow-up, genetics and symptom assessment. Claire is currently undertaking a PhD in the priorities for bowel cancer follow up care across diverse communities.#TeamGP #BowelCancer #PrimaryCare

Your Genetics are a key part of my TUSHY Method (Y = Your genetics) and I'm so honored to have Dena Goldberg (also known far and wide as Dena DNA) joining me today! Some of the questions I know you have on your mind about genetics are: Nothing came back on my 23 & Me test. I'm good to go, right? Answer: Not so fast. 23&Me relies on "SNP testing," and only looks at "very specific bookmarks on very random genes." You'll want a more thorough test for preconception screening. I don't have any history of disease in my family. Do I need to do genetic testing? Answer: It's a good idea. There are syndromes such as Lynch Syndrome that are asymptomatic in 90% of people who are carriers. You'll want to know if you have those genetic markers before passing them on to your embryo and child. Can you make sure my embryo doesn't have autism? Answer: Autism is actually a description of a constellation of symptoms. So it's not an underlying condition in and of itself. There are hundreds to thousands of genetic causes to autism. We can catch some of these cases, but not all. Autism is multifactorial, meaning that many of these cases are probably caused by a combination of genetics and environment or in other words, nature and nurture together. Thank you for joining me, Dena! Listen on Dr. Aimee's website Do you have questions about IVF? Join Dr. Aimee for The IVF Class at The Egg Whisperer School. The class includes a live class call where Dr. Aimee will explain IVF and there will be time to ask her your questions live on Zoom. The next call is Monday, February 10, 2025. Find Dena's site here: https://www.denadna.com/home Subscribe to my YouTube channel for more fertility tips! Join Egg Whisperer School Checkout the podcast Subscribe to the newsletter to get updates Dr. Aimee Eyvazzadeh is one of America's most well known fertility doctors. Her success rate at baby-making is what gives future parents hope when all hope is lost. She pioneered the TUSHY Method and BALLS Method to decrease your time to pregnancy. Learn more about the TUSHY Method and find a wealth of fertility resources at www.draimee.org.

I sit down with Junius Nottingham Jr, founder of JNottGTT, a non-profit for Lynch Syndrome awareness.  Junius tells the story of his son Jeremy, who was a secret service agent and so much more, who passed at age 30.  Junius discovers his own colon cancer after his son's diagnosis, but it was found early, and he was ok just after surgery.  As a parent, I feel that level of guilt and responsibility, and I applaud Junius for staying in this, and using his platform to help others. Junius reminds us that it's ok not to be ok, and thanks God for keeping him going, even when disucussing such a difficult subject.  

Join Michael and Mom as they talk to Amy Hart. Amy is a colorectal cancer survivor; she lives with Lynch Syndrome and has permanent Ostomy. She is beautiful, sexy, smart, and funny! She is a mama, wife, has a full-time career and she advocates not only for colorectal cancer, but for ALL women AND men going through difficult times with health and body acceptance. The three laugh, get serious, talk about needed changes (especially for AYA's, adolescents and young adults going through cancer), listening to our bodies, advocating and standing up to doctors, and simply waking up and moving forward. Follow Amy and her inspiring journey on Instagram: https://www.instagram.com/barefootostomate/?hl=en

This episode is co-hosted by Joshua Sommovilla, MD and Thomas (T.J.) Slavin, MD, FACMGG, DABCC and features Pål Møller, MD, PhD, a Senior Scientist at the Oslo University Hospital, NorwayTogether they delve into the Dr Møller's paper "Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch Syndromes."Read our blog post to learn more about this podcast HERE

I sat down with MSK's colorectal surgeon Dr. Mohammad Ali Abbass just before CGAIGC, the Collaborative Group of the Americas on Inherited GI Cancers.  At CGA, Dr Abbass moderated a discussion around colon resection for Lynch Syndrome patents.  Dr Abbass and I also discussed a study around the outcome of surgical decisionmaking for those who have had germline testing before surgery vs those that have not.  Of course we talk aspirin, vaccines and exercise and our lives in the "Lynch Syndrome bubble" and while some changes have been glacial, others have moved forward more significantly over time.  For fun, we talked Artificial Intelligence and risk prediction, and soccer in the New York City area.     

Send us a textStomach cancer, often referred to as gastric cancer, is a sneaky cancer.  Its symptoms can be easily mistaken for more benign conditions like indigestion or acid reflux, making early detection a challenge. In our latest podcast episode, we delve into this complex disease with the help of two esteemed experts: gastroenterologist Dr. Walid Chaloub, and Dr. Ritu Mukherji, a medical oncologist from MedStar Georgetown Cancer Institute in D.C. Host Debra Schindler explores the biology of stomach cancer with her physician guests to understand how mutations in the DNA of stomach cells can lead to uncontrolled growth and tumor formation. This formidable disease often goes unnoticed until it has advanced significantly, highlighting the critical need for awareness and early detection. Dr. Mukherji shares the various risk factors associated with stomach cancer, including smoking, diet, and certain bacterial infections like H. Pylori. She emphasizes the importance of molecular testing in diagnosing and treating this disease, as it can reveal specific mutations that may be targeted with personalized therapies. The episode also explores the different diagnostic tools available, such as endoscopy and CT scans, and the role of tumor markers in assessing the presence of cancer. While these tools are invaluable, Dr. Mukherji stresses that they are not foolproof, underscoring the importance of comprehensive testing and expert analysis. One of the most enlightening parts of the discussion is the potential for treatment and even cure. While surgery is a common approach, not all patients are candidates. The podcast highlights the evolving role of chemotherapy, immunotherapy, and targeted therapies, offering hope to those battling this disease. Listeners will gain a deeper understanding of the symptoms to watch for, the importance of genetic predispositions, and the latest advancements in treatment. This episode is a must-listen for anyone interested in learning more about stomach cancer, whether for personal knowledge or to support a loved one. Tune in to this informative episode to arm yourself with the knowledge needed to recognize the signs of stomach cancer early and explore the treatment options available. Your Health, or that of someone you care about, could depend on it.---For more episodes of MedStar Health DocTalk, go to medstarhealth.org/doctalk.

I sit down with Dr. Patrick Soon-Shiong, Executive Chairman and Global Chief Medical and Scientific Officer for Immunity Bio, and we talk everything cancer vaccines scientifically, including the potential Lynch Syndrome vaccine.  A new term is announced on our podcast, Tumor Educated Lymphocytes.  Dr Soon-Shiong, succinctly summarized a very complicated vaccine space, which will be important as more patients enroll in trials and learn about their genetics.  

I sit down with a reluctant guest, Diane Hardesty finally, Lynch Syndrome patient, speaker and a self-proclaimed Valley Girl.  Before Diane's genetic testing results, 10 people in her family had passed away from cancer.  Diane's son did not inheret her mutation so it ends with her.  Diane is still a previvor, as she has not had cancer, but not for a lack of looking.  Diane's sister has had cancer 18 times and she is still with us.  How can she NOT do this? - is Diane's mantra when asked how she can talk about Lynch Syndrome when so many have been affected.  

JCO PO author Dr. Michael J. Hall, Professor of Medicine, Chairman of the Department of Clinical Genetics, and Co-Leader of the Cancer Prevention and Control Program at Fox Chase Cancer Center in Philadelphia, PA, shares insights into the JCO PO article, “Uptake of aspirin chemoprevention in patients with Lynch Syndrome.” Host Dr. Rafeh Naqash and Dr. Hall discuss the finding that only about 1 in 3 patients with Lynch Syndrome use aspirin for cancer chemoprevention. TRANSCRIPT  Dr. Rafeh Naqash: Hello and welcome to JCO Precision Oncology Conversations, where we bring you engaging conversations with authors of clinically relevant and highly significant JCO PO articles. I'm your host, Dr. Rafeh Naqash podcast editor for JCO Precision Oncology and Assistant Professor at the OU Health Stephenson Cancer Center at the University of Oklahoma. Today, I'm excited to be joined by Dr. Michael J. Hall, Professor of Medicine, Chairman of the Department of Clinical Genetics and co-leader of the Cancer Prevention and Control Program at the Fox Chase Cancer Center in Philadelphia, and also the lead author of the JCO Precision Oncology article entitled, “Uptake of Aspirin Chemo Prevention in Patients with Lynch Syndrome.” At the time of this recording, our guest disclosures will be linked in the transcript. Dr. Hall, welcome to the podcast and thank you for joining us today to explain and help the listeners understand your interesting research that was just published in JCO Precision Oncology. Dr. Michael J. Hall: Thank you so much for having me and really thanks for the interest in our work. I think it's an important subject and I hope people will also find it as interesting as we do. Dr. Rafeh Naqash: Absolutely. I think your research touches upon a few things. One, obviously, touches upon Lynch syndrome germline assessments of individuals. It also touches upon chemo prevention, prevention in general, and it also touches upon the knowledge and understanding of chemo prevention aspects. So to start off, I would like to ask you, for the sake of our listeners, many of whom who may not necessarily fully understand the length and breadth of Lynch syndrome, maybe perhaps some residents or trainees out there, could you tell us what Lynch syndrome is, what some of the mutations are, what the implications are, and then we can try to go and delve more into the research topic. Dr. Michael J. Hall: Sure, I'd be happy to. Lynch syndrome is probably, in the hereditary cancer genetics world, one of the most common hereditary risk syndromes we encounter. Recent estimates are that probably roughly about 1 in every 280 individuals in the population is a carrier of a pathogenic variant, one of the Lynch syndrome genes, there are roughly four. There's sort of a fifth gene that is also involved with Lynch syndrome, but really, we largely think about four genes in Lynch syndrome, MLH1, MSH2, MSH6, and PMS2. Over time we've begun to learn, and I'll say that the guidelines that we develop have become more specialized for each of those genes. They are not sort of all the same in the cancers they cause and the way they behave. But roughly, what is Lynch syndrome? It's a syndrome of DNA mismatch repair. So, individuals who have Lynch syndrome have some degree of deficiency in their ability to repair DNA via the mismatch repair system. Depending on the pathogenic variant that is within a family, that may be related to a more severe deficiency of mismatch repair, repair, editing, or for instance, with the PMS2 gene, we've learned over time that actually the degree of DNA repair deficiency is actually a milder phenotype. These individuals over a lifetime are at risk of a variety of different kinds of cancers, the most common being colon cancer. And the risk of that is variable by gene. With MLH1 and MSH2, it's close to 50% over a lifetime. With MSH6 and PMS2, somewhat lower. There are also risks of endometrial cancer, gastric cancer, ovarian cancer, pancreas cancer, a number of other ones. But they're all related again to the same underlying molecular deficiency, and that's this deficiency of being able to repair mistakes made in the DNA accurately. And so, mutations accumulate in the genome of cells in various tissues of the body. Dr. Rafeh Naqash: Thank you for that very simplified version of a very complicated topic otherwise. So, as you mentioned, these different genes have different implications. Perhaps some have higher risks for colorectal cancer than others. What are some of the current standardized approaches for screening or following these individuals over the course of their journey until perhaps either get detected with cancer or while they're being monitored? Dr. Michael J. Hall: Sure. It's a great question, because this is very much a moving target in this disease. I'm going to give you a quick second of history that up until maybe about six or seven years ago, we had uniform guidelines, really, that any Lynch syndrome pathogenic variant carrier should start colorectal cancer screening. Usually, we were recommending between the age of 20 and 25, and this was usually annual colonoscopy. And for years that was the standard. In more recent years, we've stuck to that tight interval, particularly in the higher risk genes, MLH1 and MSH2, although the guideline now reads every one to two years, because we recognize people need some degree of flexibility to live their lives. And there are people in the population who are more risk averse, and there are those who want a colonoscopy every year because they want to stick to that schedule. For MSH6, we recommend a somewhat later start at age 30, and that can be every one to three years for colon screening and for PMS2, similar recommendations, although I think there is a chance in the coming years, we may actually expand the screening interval even more, again, because the risks are somewhat lower. We still have ways to go in terms of screening for the other cancers in Lynch syndrome. I'll say that, for instance, endometrial cancer, which is the second most common cancer in this disease, we still struggle with what is the best way to screen women for a risk of endometrial cancer. Our guidelines in the past were always somewhat draconian, that once women sort of finish childbearing, they should immediately have a total abdominal hysterectomy and oophorectomy. And I'll say that with greater input from the gynecologic and GYN ONC community, we have somewhat softened those recommendations, especially for the endometrial cancer and also the age at oophorectomy, because we recognize that there were compensatory risks of taking the ovaries out too early in some women, risks of bone loss and cardiovascular disease. So those are the most common. For other tumors in Lynch syndrome, for instance, gastric cancer and pancreas cancer, the guidelines are still really evolving, and different groups have put out guidance for clinicians. And I'll say NCCN, which I participate in and help write those guidelines, has very good recommendations for docs. But I'll say that it is again, back to the idea that it's a moving target. And as we learn more, hopefully, we'll have better recommendations. Dr. Rafeh Naqash: I completely agree as far as a moving target is concerned, and we often look at the disconnect between the recommendations and then what's implemented or followed in the real-world setting. So I have a question in that context, and my question is, when you identify these individuals with Lynch syndrome, perhaps let's talk about academic settings, and then we can try to delve into how this might work in the real world community oncology settings, where the real world population actually exists, 60, 70% of individuals get treated in the community. So, when you talk about an academic center, what is the flow of the individual? Does the individual stay within the geneticist when they're diagnosed? Does the individual go to the primary care and the geneticist makes the recommendation and the primary care follows the recommendation? How does it work for you and what are some of the models that you've seen work best perhaps at different academic centers? Dr. Michael J. Hall: I think you get at a really great question. And I'll say there is really no one model. And I think models have to be fluid these days because people with Lynch syndrome are really being identified in more and more diverse settings, and by diverse means. I'll say at my own center, we are more of a traditional practice. So, we do the pre-test and the post-test counseling. Once we have counseled individuals identified Lynch syndrome, we will usually make referrals. If folks don't have a gastroenterologist that they have interacted with before, we keep them in our own group and follow them. But their Lynch syndrome home really sits both in a continuity clinic that I run for patients to come back and circle around every one to two years just to review guidelines and review their screening results. However, I do really make an effort to, first of all, keep primary care docs involved, because I think some of the things we recommend, it is critical that the primary care doc is aware so that patients are keeping up with some of the recommendations. For instance, we often recommend skin screening to make sure that folks have had at least one good skin exam somewhere in the 40s. And I think the primary care doc can be very helpful in making sure that happens. It is somewhat different, I think, in the community where many more patients with Lynch syndrome are being identified these days. I suspect that much more of the burden of making sure Lynch syndrome patients are well hooked in with a gastroenterologist and with a dermatologist and maybe a urologist probably does fall on that primary care doctor. In my experience, some primary care physicians have really kind of jumped up in and taken hold of this and really know their Lynch syndrome well, and I think that's amazing. I do, however, as kind of an expert in this area, I do get a lot of referrals in from the community as well, from docs who just feel that they may not have quite that expertise that they can get at a comprehensive center. So, someone may come in to me just for a consult to review what my recommendations would be, hear about research, hear about what's going on in the field, and those folks will often touch base with me again every couple year or so. Often, another thing I've started to experience is that I may meet people once or twice early on in their diagnosis, and then they go back to their primary docs and I may not hear from them again until something more profound happens in the family or into the patient and they get their screening colonoscopy and a stage 1 cancer is found. Often then, that's the patient who, after four or five years, will contact me again and say, “We haven't talked in a while, but something has happened, and can we re-consult about what would be the best way to do things?” Dr. Rafeh Naqash: Again, like you said, lots of moving targets, moving aspects to this whole care of these individuals. Do you think, in your experience, nurse navigation, maybe some centers have already implemented that perhaps you might have that, do you think nurse navigation could play a certain level of role? You know how in the multidiscipline care we have nurse navigators that coordinate care between radiation oncologists, medical oncologists, thoracic surgeons. So that's something that is being implemented. My second part of that question is telehealth in this case, maybe it's a little more difficult for somebody to drive three hours to come to you for a visit just to check in versus maybe virtually talking to you or your team getting a sense of where things are at in terms of their screening and their follow ups. Dr. Michael J. Hall: I think both are great, great questions and absolutely, we use both of those pieces in our model. And I know from colleagues that they do as well. So, in terms of navigation, we do have an embedded nurse navigator within our department. She joins and kind of helps facilitate all of our high risk follow up clinics. Mine, for GI, we have a high-risk prostate clinic, we have several high-risk breast clinics and those are populated by providers. We have a couple of nurse practitioners in my genetics group and a PA they are sort of the main provider in those clinics, but they are very much supported by that nurse navigator who, as you well point out, really helps with the coordination of the care. Telehealth as well, I do 100% support because you're absolutely right, if you look at a map of the United States and you first of all look at where there are good counseling services available, of course, there's ample counseling in the major metropolitan areas all over the U.S., but the minute you get outside of those counseling and then other management expertise, then– So we do have a model where particularly for folks who are from central Pennsylvania and sometimes more towards western Pennsylvania, I do have some individuals who've been identified with Lynch syndrome who telehealth in, again, for that follow up. A sort of side notes on telehealth, I think we learned a lot from the pandemic about how to use telehealth more effectively. And thank goodness, we've all gotten up to speed in medicine of how to be better telehealth providers. Unfortunately, I feel like with the pandemic kind of waning, there's been a little bit of a regression of the telehealth laws. So now if I want to do telehealth with someone who is from New Jersey, even though New Jersey sits very close to where I practice, it's more complicated now. Again, I have to get a license and same thing with New York and same thing with Delaware. I sort of wish we had a little bit of a better and welcoming system in the states where you could have easier ability to practice, especially when states were quite close using telehealth. But nonetheless, that's for another podcast, I think. Dr. Rafeh Naqash: Well, thank you again for some of those interesting aspects to this whole topic. But let's dive into the thing that we are here to talk about, which is aspirin in these individuals. So can you give us some context of why aspirin, what's the biology there and what's the data there, and then talk about why you did what you did. Dr. Michael J. Hall: So, we've known for many years that aspirin has preventive properties in terms of preventing colorectal cancer. Many observational studies and some interventional studies have shown us that aspirin has benefits for reducing the risk of colon cancer in an average risk population. There was even an interventional trial a number of years ago that looked at individuals who made polyps, and this looked at particularly adenomas, which we know are the precancerous polyps and adenoma prevention using aspirin. And that study clearly showed that aspirin had benefits for lowering risk of recurrent polyps and adenomas. Particularly even a lower dose of aspirin, 81 milligrams, was effective in that setting. Aspirin's also been studied in other hereditary risk syndromes, the most visible one being FAP, where data have shown that aspirin does help reduce polyp count in FAP, although is certainly not a perfect chemo prevention for that disease. So, in that background of knowing that aspirin has many benefits for colorectal cancer prevention, a study was initiated in the UK a number of years ago called the CAPP2 study, with its lead investigator being John Burn. And in this study, it was a two-arm factorial study that was not just aspirin, but they were also looking at resistant starch, which there was a lot of excitement about resistant starch back then. But in this study, they looked at using aspirin as a way of lowering risk of colorectal cancer in patients with Lynch syndrome. And that study, which was initially reported in The New England Journal, the initial outcomes did not actually show benefits in its first analyses of adenoma risk and colon cancer risk. But what they found over time was that there was a delayed effect and, in a follow, up paper looking at 10 plus years of follow up, they showed a substantial reduction in risk of colon cancer, about 40% risk reduction, which was really striking and exciting in the field to see such a large benefit from aspirin. Now, one caveat was in the analyses they performed, it was those individuals who were able to stick to the aspirin dose in that study, which was 600 milligrams a day. I always say to folks that back in the day, that was not a lot of aspirin, although I think these days we're much more skeptical about taking larger doses of any drug. So, 600 milligrams is roughly about two adult aspirin in the U.S. So those folks who were able to stick to that dose for at least two years were the ones who gained benefit from being on aspirin. And what was interesting is that benefit endured for really 10 years after those two years of being able to take aspirin. So, this was striking and it really changed our thinking about whether there may be chemo prevention options for folks with Lynch syndrome. However, and I think what formed the background of our study here was that there was a somewhat equivocal endorsement of aspirin by the major guidelines committees, mainly because, as we all know in oncology, we love one first big study, but we always really love secondary studies that solidify the finding of the first study. And so, because this was such a niche group and no one else out there was doing big aspirin studies when this result came out in 2011, we've sort of been waiting for many years for some follow up data. And the NCCN guidelines have always been a little bit equivocal that people could consider using aspirin to lower risk in their patients with Lynch syndrome, but without that kind of strong, “Everyone should do this.” And so, this has kind of formed the background of why we performed the study that we did. Dr. Rafeh Naqash: Interesting. And then you had a bunch of observations. One of the most important ones being that use of aspirin was pretty low. Could you dive into that and help us understand what were some of the factors surrounding those low implementation aspects? Dr. Michael J. Hall: Of course. So, what we were interested in then again in that background was, here's a high-risk population, docs are getting somewhat maybe ambiguous information from the guidelines, but what actually is going on out there in practice? How many patients are actually using aspirin? What doses are they using, and what are some of the factors that drive it? So, we performed a survey that actually occurred in two parts. One started at Fox Chase in our population here, and then we expanded it online to a convenience sample. Overall, we had 296 respondents. And yeah, what we found actually was the uptake of aspirin was only about roughly 30%, 35% or so among patients who were eligible to take aspirin. When you actually drill down to those people actually taking aspirin because they wanted to prevent Lynch syndrome, it was even lower. It was in the range of 25% to 30%. This somewhat surprised us. And then when we looked at the doses that people were using, of course, thinking back to that 600-milligram dose that was tested in the study, we found actually that more than half of folks were taking low dose aspirin, like an 81 milligram, and only about 8% of our study participants were using that 600-milligram range. So, again, I would say this somewhat surprised us because we thought it might be higher than this. I'll say as a somewhat caveat to this though, is that back to my comment about we always like another study that confirms our findings, and at a meeting earlier this year, there was a study performed in a New Zealand population by a medical oncologist named Rebecca Tuckey. And she actually found almost the same identical results that we did in the New Zealand population - very, very similar uptake rates of aspirin in the New Zealand population with Lynch syndrome, so kind of confirming that something we've stumbled upon appears to be true. But how do we understand why some folks use aspirin and why others don't in this condition? Dr. Rafeh Naqash: You had a very robust question there from what I saw in the paper. And some of the questions that I had around that was, did you or were you able to account for demographics, education level of the individuals? Were you also able to assess whether these individuals felt that they had been counseled appropriately when they met with either a primary care physician or of any provider on the genetic side, physician or non-physician? So how did you get an assessment of whether it was an apples-to-apples comparison or were there a lot of confounders. Dr. Michael J. Hall: Very good question. And of course, in the setting, unfortunately, we weren't interviewing people, which we could have gotten much richer data in some ways. And there were other things we were looking at in this survey as well, so our aspirin questions, we had a number of them, but perhaps in retrospect, it would have been nice to even have more. We did have some common covariates, age, sex, ancestry, marital status, which gene was affected, whether they had a history of cancer. We did not have education, unfortunately. And I think your question is a great one, but we did not actually ask folks about whether they had been counseled by their provider or their genetic counselor or someone else about whether they should use aspirin or not. We simply wanted to see whether folks were using it. We did ask them again whether they were using it because they wanted to lower their risk of a Lynch syndrome cancer or whether they were using it for another reason or a combination of both. So, yes, in retrospect, we actually do have another study plan to kind of drill deeper into these questions of is it more of a hesitancy question? Is it more of a question of just not as much awareness? Are there other reasons? I think there's a lot to answer, and I think answering these questions is really important because we both want to make sure we're talking about interventions that we think can help people, but we need to understand also some of the barriers they may face. And if people do have barriers to some forms of chemo prevention or I think about some of the vaccine research that's going on right now, if the kinds of things that we're working on to develop are actually not going to be palatable to the patient, the population, then I think we kind of need to step back and say we need to maybe understand what people want so that we can have a good meeting of what's going to work and what's going to fit the needs and lifestyles of our patients. Because these are things they might have to do for many, many years and starting maybe even in their 20s or 30s. So, it makes a difference. Dr. Rafeh Naqash: From what you learned in the study, are you thinking of any subsequent interventional approaches, whether they involve a simple phone call to the patient regularly or perhaps, even though I'm not a big fan of EMR prompts, like an EMR prompt of some sort, where they talk, where they're instructing the provider, whoever is seeing the patient physician or the APP or the geneticist that, “Hey. Did you counsel the patient?” And its sort of a metric how in the oncology side they say, “Well, your metric is you should stage all patients and you should talk about toxicities from a reimbursement standpoint and also from a quality improvement metric standpoint. “Is that something you're thinking of? Dr. Michael J. Hall: 100%. So, when we looked at the barriers, many of the kind of the things that were the strongest predictors of who used aspirin versus who didn't were really patients' perceptions of whether aspirin would cause side effects or whether aspirin would be burdensome to take on a daily basis, also, just how much benefit they thought would come from taking aspirin. So, I think there's, number one, I think an intervention and our next delve into this as an interventional study would be both education about the delta prevention benefit that you get from aspirin, the safety profile of aspirin, which is really quite excellent. And also, I think the data that are so important that in this study by Burn et al, it was actually only two years of intervention that then paid off for 10 years down the line, right? So, I think that's important. The other thing that we actually learned as an aside in this study was actually the kind of intervention that patients wanted the most was actually not a drug and was not a vaccine and was not another kind of special scope to stick somewhere. What they actually were most interested in were interventions related to diet. People really see diet as being an important part of health, or I should say diet and nutrition. And so, I think a subsequent study would perhaps wed both a nutritional intervention of some kind with a chemo prevention in some sort of time limited fashion, so that folks felt like they were both focusing on something that was more important to them, but also, something that was related to the study that we wanted to look at. So that's kind of my idea of where we're going to go in the future with this. Dr. Rafeh Naqash: Excellent. Sounds like the next big RO1 for your group. Dr. Michael J. Hall: Let's hope so. Dr. Rafeh Naqash: Well, I hope the listeners enjoyed talking about the science and learning about aspirin Lynch syndrome. The last couple of minutes are about you as an individual, as an investigator. Can you tell us what your career journey has been like, how you ended up doing what you're doing, and perhaps some advice for early career junior investigators on what this whole space looks like and how you pace yourself and how they can learn from you? Dr. Michael J. Hall: I really got interested in oncology during my residency training. I really found that I really liked oncologists. I found them to be a bit more of a science focused group. They liked research, but you're in oncology because you understand the fears and the challenges of cancer. And so, it's both a combination of that love of science, but also that real human touch of taking care of people. The thing I always tell my fellows as well is the other thing I love about oncology is if you tell people they don't have cancer, they don't want to come back to you. Now, of course, that's modified in the prevention setting. But I really like that when people come to me in my GI oncology clinic, it's because they have a diagnosis and if I say you actually don't have cancer, they go off to their life, and so you're really spending your time on real subjects. The person who really got me most interested in Lynch syndrome and this kind of prevention research was a mentor from University of Chicago, Funmi Olopade, who really has been an enormous mentor for many, many people in the field. Actually, three people in my fellowship class all went on to careers related to genetics and genomics. So, she's been highly influential and continues to mentor me even in my mid-career. I think in terms of pearls or what keeps this interesting for me, I think as much as oncology treatment and new drugs and trials is super exciting, I love being able to step away from that into my genetics and prevention population and kind of focus on treating people in a different format. Patients who are healthy but are worried about cancer because of a family history or carrying a gene or otherwise, and I feel that that's where I can have also an important impact, but on a different level in educating people and helping them understand how genetics works in an understandable and simple way, but also giving them some tools. And one reason for this study, and the reason I study preferences related to prevention is, again, I don't want to just develop something and spend 10, 15 years of my life developing some intervention that everyone looks at and is like, “I don't really want to do that.” I want to really understand what it is that is important to the patients so that we can hopefully work together to develop things that can not only have impact but have impact on a wide scale. Dr. Rafeh Naqash: Awesome. You mentioned Dr. Olopade. I crossed paths with her actually at an international medical graduate community of practice session earlier this year at ASCO where she talked about her journey as an immigrant, talked about how she started, the kind of impact that she's had. It was obvious evident in the picture that she showed with all her mentees who have kind of gone all over the world. So that was very phenomenal. And it's surprising how small of a world we live in. Everybody knows everybody else. Dr. Michael J. Hall: It's crazy. More so than anyone I think I've met in my career; she is really a huge believer in mentorship and spending that extra time with your mentees. And she has been someone who has continued to promote me as an investigator and build me up and get me involved in things. And like I said, I've been in oncology now for quite a few years. But having that person who I think is always thinking about their trainees and people who have learned and grown under them, because what it does is it gives you that fire as well as an investigator to do the same thing for the people that you are a mentor for and train. So, I try to be just as good of a mentor to my genetic counselors and the fellows who come through me and my APPs to give them opportunities to get them excited about research and when they have these big moments to do that. So, yeah, I know Funmi just has had a huge impact on the field of genetics. I still remember some of our early conversations on the wards when she said to me, “Oh, this is such an interesting case. We don't really have anyone who's studying Lynch syndrome so much right now and you should really get into this area.” And I remember thinking, “Okay, I want to develop a niche and here's a niche that's waiting.” Dr. Rafeh Naqash: Clearly it paid off big time and you're paying it forward with your mentees. So, thank you again for joining us. This was an absolute pleasure. Hopefully, the listeners learned a lot about the science and also your journey and how you're trying to impact the field. Thank you for listening to JCO Precision Oncology Conversations. Don't forget to give us a rating or review and be sure to subscribe so you never miss an episode. You can find all ASCO shows at asco.org/podcasts   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 opinion, 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.      

Megan Hoenig, M.S., M.P.H., CGC, explains how Mayo Clinic Laboratories' unique hypermethylation analysis (Mayo ID: MLHPB) provides critical adjunct information for managing Lynch syndrome. That genetic condition increases patients' risk for many kinds of cancer.Speaker 3: (00:32) Could you provide our listeners with a little bit about yourself and your background? Speaker 3: (01:27) Could you give an overview of our MLH1 hypermethylation, also referred to as MLHPB in our test catalog?  Speaker 3: (02:48) Can you talk about why your team thought it was really important to develop this test? Speaker 3: (04:03) What patients would this testing really benefit? Speaker 3: (06:10)How are the results used in patient care? Speaker 3: (07:56) Anything else you would like our listeners to hear about MLHPB?

I sit down with Robin Centner, Lynch Syndrome survivor, who talks about how she had a conversation with Dr Henry Lynch himself, her family history, and how she made it her mission to take of her family and make sure they had all the information they needed to take care of their health.  Robin feels fortunate to be able to do what she does in her home state of Kentucky and beyond.    

Recently, doctors announced some extremely encouraging news about a jab for people with advanced forms of several types of malignancy, including melanoma, lung cancer and other solid organ tumours. The vaccine is called mRNA-4359 and has been developed by the pharmaceutical company Moderna, of Covid vaccine fame. The trials have been conducted here in the UK, and we'll hear from the man running the study. Also, the success of the HPV vaccine in preventing cervical cancer, and how a Lynch syndrome vaccine could prevent a variety of malginancies... Like this podcast? Please help us by supporting the Naked Scientists

Welcome back to our weekend Cabral HouseCall shows! This is where we answer our community's wellness, weight loss, and anti-aging questions to help people get back on track! Check out today's questions:    Loren: I have been learning about all things health and wellness by listening to all the Cabral Pods; reading the info and purchasing devices, tests and vitamins with Equilife. Last year I finished a Nutrition & Healthy Life Certificate with Cornell. Time and money is a little tight at the moment or ai would start the IHP Program ASAP. What specifically would you recommend for someone in early 50s with Lynch Syndrome to have optimal health.     Tony: I have a smell in my nose that won't go away. Smells like body odor, but no one smells it when I ask them. Very annoying and frustrating. What could cause me to smell this all of the time? Pleas help.     Kurt: Hello Dr Cabral. Just want to start by saying I'm a huge fan and have been following you for some time now. You have helped me so much in my health journey. I've had a health concern for about two years now with no answers. I've seen multiple pcps, gastroenterologists as well as cardiologist and an endoscopy done as well with no answers. It's been a very frustrating and hard time in my life. I've been very disappointed with conventional medicine. My main issue has been daily heart palpitations. All doctors have said that everything is normal and just want me to take beta blockers. I've tried these but they seem to make the palpitations worse. Have ran multiple food sensitivity tests, inflammation and minerals and metals test. Worked on the gut, it has helped but still there. Thank you.     Erica: Hi Dr. Cabral, I've noticed that when I eat certain foods (particularly non-organic dairy - i.e. sour cream or ice cream) my body will be sore / tense / tight the next day. It almost seems like my back will cramp up a bit and I'll be stiff. I've tested myself from an IGG standpoint and I'm not super sensitive to dairy (I'm in the green) and they were both gluten-free (I am sensitive to gluten similarly). Do you think there are certain types of chemicals / hormones in conventional dairy I am sensitive to? Also - do you think this is something I could ever fix and is the result of a different underlying issue? Thank you!     Lara: Hi, dr. C! I was looking for your podcasts about xanthan gum, remembering you said it's not ok to use but then I stumbled upon your low FODMAP infographic which has xanthan gum on it! How so? Why would you put something on it that you say is not ok to use? Thank you, looking forward for your answer as always.. happy healing to everyone!     Thank you for tuning into today's Cabral HouseCall and be sure to check back tomorrow where we answer more of our community's questions!      - - - Show Notes and Resources: StephenCabral.com/3144 - - - Get a FREE Copy of Dr. Cabral's Book: The Rain Barrel Effect - - - Join the Community & Get Your Questions Answered: CabralSupportGroup.com - - - Dr. Cabral's Most Popular At-Home Lab Tests: > Complete Minerals & Metals Test (Test for mineral imbalances & heavy metal toxicity) - - - > Complete Candida, Metabolic & Vitamins Test (Test for 75 biomarkers including yeast & bacterial gut overgrowth, as well as vitamin levels) - - - > Complete Stress, Mood & Metabolism Test (Discover your complete thyroid, adrenal, hormone, vitamin D & insulin levels) - - - > Complete Food Sensitivity Test (Find out your hidden food sensitivities) - - - > Complete Omega-3 & Inflammation Test (Discover your levels of inflammation related to your omega-6 to omega-3 levels) - - - Get Your Question Answered On An Upcoming HouseCall: StephenCabral.com/askcabral - - - Would You Take 30 Seconds To Rate & Review The Cabral Concept? The best way to help me spread our mission of true natural health is to pass on the good word, and I read and appreciate every review!  

Interview with Eileen M. O'Reilly, MD, author of Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer. Hosted by Vivek Subbiah, MD. Related Content: Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer

Interview with Eileen M. O'Reilly, MD, author of Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer. Hosted by Vivek Subbiah, MD. Related Content: Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer

Today on the show, we talk to powerhouse couple David and Robin Dubin, who founded Alive and Kickn to advocate for those with the Lynch gene. At age 29, Dave was diagnosed with colon cancer and Lynch Syndrome. Few have heard of it, but Dave and Robin are trying to change that. Because Lynch is a genetic pre-condition to cancer that affects 1 out of every 279 people, and most people don't even know they have it. Dave and Robin talk about survivorship, pre-vivorship, and the importance of genetic testing.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

In this episode, we hear the remarkable story of Wenora Johnson, a three-time cancer survivor who faced the challenges of job loss, single motherhood, and pursuing an education, all while navigating her diagnoses. Wenora shares her experiences with warmth, humor, and wisdom, offering valuable insights for anyone facing adversity. We delve into the cultural taboos surrounding cancer in her community, the critical role genetics played in her health journey, and why involving loved ones in our health decisions is so essential. Wenora's story goes beyond survival; it's about how she turned her experience into a passion for patient advocacy, making a lasting impact in the cancer community. Key Highlights: 1. Given the significant role genetics play as a risk factor for cancer, it is important to keep your family and loved ones informed.  2. Give yourself grace; you don't have to become a patient advocate fighting for systemic change. It's perfectly okay if your focus is simply on getting through today. 3. Having a supportive healthcare team that genuinely wants to see you succeed is crucial—not only for the effort they'll put forth but also for inspiring you to stay healthy and proactive in your treatment.  Feeling lost in your cancer experience? We've created interactive, disease-specific maps to help you see all the paths you might face. Launching this Fall! Sign up for access here. About our guest: Wenora Johnson is a three-time cancer survivor (Colorectal, Endometrial and Basel Cell Carcinoma), Volunteer Research/Patient Advocate and Navy Veteran. As a volunteer with various organizations, she shares her understanding of policy; research; genetic testing; hereditary cancer; patient engagement and clinical trials with patients and the healthcare community. Being a Lynch Syndrome patient, Wenora advocates for genetic testing and awareness. She serves on various panels and review boards to provide extensive feedback on her role as a patient and research advocate with organizations such as CAP (College of American Pathologist); Clinical Trials Curator for Fight CRC; FORCE (Facing Our Risk of Cancer Empowered) Research Advocate, Peer Navigator and Board Member; a Consumer Reviewer for the DoD Peer Reviewed Cancer Research Program; a PCORI Ambassador and Clinical Trials Panel Member; IRB for local community hospital; NRG Oncology Patient Advocate Committee Member and the AACR Scientist~Survivor Program - presenting a poster on financial toxicities and disparities among minority patients; Center for Genomic Interpretation (CGI) Acceptable Thresholds Committee Board Chair and an External Advisory Board Member for WCG Clinical Services.  She has written various patient advocate blogs and participated as a guest speaker/panelist and serves as the Community Patient Advocate for the University of Chicago Comprehensive Cancer Center and the University of Chicago Cancer Center. Wenora works in administration in the greater Chicagoland area and enjoys reading and traveling with her family. Visit the Manta Cares website  Disclaimer: All content and information provided in connection with Manta Cares is solely intended for informational and educational purposes only.  This content and information is not intended to be a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

I sit down with Roxy Thunder, originally from the Phillipines but now residing in Michigan.  Roxy is a bodybuilder, personal trainer and a lifestyle coach.  Roxy inherited her Lynch Syndrome mutation from her father, who passed away from colon cancer and was diagnosed at 45.  Roxy herself developed bleeding, where she discovered PCOS and Endometriosis, all while going through a divorce as well.  She also had genetic testing to confirm Lynch Syndrome, and subsequently developed the lifestyle she lives now.  Even with family passing away in the Phillipines, so far, none of the family has gotten genetic testing.  Roxy credits changing her lifestyle and training for keeping her healthy.  In her spare time, Roxy became passionate about politics during Covid and researching, including going down some rabbit holes, as we all have.    

Genomics has changed considerably over the past 10 years, and we are now exploring how to integrate it into routine healthcare. In this episode, our guests reflect on this evolution and discuss how the key learnings from the past 10 years can shape the genomics ecosystem of the future. They highlight the importance of partnership across teams, organisations and participants, emphasising the importance of keeping participant and patient benefit at the heart of research, whilst also addressing the ethical and safe storage of patient data. In this episode, our host, Helen White, who is the Participant Panel Vice-Chair for cancer at Genomics England, speaks with Dr Rich Scott, CEO of Genomics England.   "Our goal is to ensure that everyone can benefit from the advancements in genomics, but this requires collaboration across disciplines and a commitment to ethical practices in managing and sharing genomic data."   You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/How_can_we_work_in_partnership_towards_a_new_era_of_genomic_medicine_and_research.docx Helen: Welcome to Behind the Genes.  Rich: There's a whole new era I see coming in terms of the therapies that are directed at the causes of genomic conditions, both in rare conditions and in cancer, and thinking as we do that, about how we structure the system to generate evidence, and to respond to it, and have a conversation about what the right balance of evidence for patients to make a choice about their own care.  Helen: My name is Helen White and I am the Participant Panel Vice Chair for Cancer, at Genomics England. On today's episode I'm joined by Dr Richard Scott, Chief Executive Officer for Genomics England. And today we'll be discussing Richard's recent appointment as CEO, lessons learnt from the last ten years in the evolution of genomics in healthcare, and how these learnings will be taken forward in the next ten years. And we'll also visit the importance of keeping participant and patient benefit at the heart of research, as well as the ethical and safe storage of patient data. If you enjoy today's episode we would love your support: please like, share and rate us on wherever you listen to your podcast.   Before we dive into the interview with Rich, I wanted to take a moment to share my story and tell you a little bit about myself. I have been a member of the Participant Panel at Genomics England since 2018. It was the year before that when I was diagnosed with endometrial, or womb cancer, and was offered the chance to join the 100,000 Genomes Project, which felt like something positive at what was otherwise quite a scary time. It turns out that I have something called Lynch syndrome, that's a genetic condition that increases my chance of developing certain cancers, particularly womb and bowel cancer, which is actually a really useful thing to know as there are things I can do to reduce my chance of getting cancer; things like having regular colonoscopies and taking daily aspirin. I have now been on the participant panel for six years and one year ago I was appointed as Vice Chair for cancer. This is a new and developing role and I am excited to have so far helped recruit more people with lived experience of cancer to the panel and to be assisting Genomics England with connecting to organisations that advocate for people whose lives have been touched by cancer.   So that's enough about me. I am delighted to be joined today by Richard Scott, and I am very much looking forward to our conversation. Welcome, Rich.   Thank you. So Rich, you've recently been appointed CEO of Genomics England. Can you tell me a bit about your background and what brought you to this role?   Rich: It's a really good question and it's one that doesn't have a really very simple answer. I guess what it boils down to is I guess I've always had an interest, even as a child, for whatever reason, in genetics and genomics. I have also then always been drawn to things where I can have an impact and particularly the impact in healthcare and that's what took me to being a medical student. And I guess it's that combination of that particular interest in genetics and being able to see, even when I was at medical school I qualified in 2000 that this was an area of medicine that was going to be really important in the future. And then as I trained, as I did a PhD and as I saw the technology develop and change and then when I saw the UK government and the NHS investing in genomics in a really foresighted way, I found myself eight or nine years sitting at Great Ormond Street as a consultant in clinical genetics where I still practice, I still do one clinic a month there as a clinical genetics consultant seeing families with rare conditions.   But I could see when Genomics England was established that this was something, as I said, really foresightful where we could really collectively across the country make more of a difference together in terms of patient and healthcare outcomes. So I joined GEL eight or nine years ago initially in a subject matter expert role, and really found myself the more time it passed, understanding how working in my role at GEL and helping GEL be a really productive part of what is a busy genomics healthcare ecosystem in the UK, we can make a big difference, and that's the thing that just wakes me up in the morning, is realising how much there is left to do, being proud of the stuff we've done, the difference we've made to participants in our programmes already, but realising that many of those still need our support to do better and the big distance left to go before we really deliver on I think the long-term promise of genomics, and I feel my mixture of skills and experience make me really excited to be in the middle of that.   Helen: Thank you. Yes, it sounds like you've brought many skills and experience, and interesting to hear that as a child you already had that interest in genetics and where that's taken you. Can you tell me what being CEO Genomics England means for you? What are your aspirations for your first year in this position?   Rich: Well, I guess, as you can tell, I'm really excited to take on this role. As I said, as a doctor I'm always focused on the impact for patients and our participants and ultimately it's the broader health of the nation. And the role I see Genomics England playing and being able to play in the future, sort of building on that, the leadership position the UK's always had in genomics – you know if you look back to the discovery of the structure of DNA, the invention of sequencing technologies and also the clinical implementation coming from that government investment and the NHS investment, what excites me most about GEL is that we can be there, playing a critical role alongside others in that ecosystem, whether that's in the NHS, whether it's our participants and the patients who we're aiming to support academia and industry, to create a whole that's greater than the sum of the parts, and I genuinely feel that the UK remains uniquely placed to live out that potential that genomics has, engaging in the questions, not just you know, the scientific questions of: what could genomics test for? Or, how could this be implemented and is it cost-effective?  But also being able to have the nuanced conversation of what we all and our participants in the public and general, expect in terms of the care we receive or how our data is looked after, and getting that really balanced view on how we chart a path forwards where we can really see big differences being made in the future, and I think always being honest to ourselves about where we are today and that things don't come in spotting some position a long time in the future that we want to navigate to, but also being really focused on the here and now and what is possible and what is evidenced, and what the next set of evidence or discussions or conversations in the public we need to have to help navigate ourselves there and that's where at the moment our focus at Genomics England is both being very clear sighted on where Genomics could go, and also thinking very clearly about where we are today, and so very much at the moment for us it's about focusing on the life service we offer to the NHS and we're really proud to be part of a world-leading whole genome sequencing service, the first national health service in the world to be providing that in the context of cancer and rare disease, and so offering and providing our service that contributes to that.   Supporting researchers so that we can keep the flow of discoveries coming and also for example, making sure that our participants in existing programmes continue to get new answers as the science evolves. So, the last year more than 2,000 families had new findings fed back because of new knowledge that's accumulating, keeping that flow going. And then we've got three big research initiatives going on at the moment where we're really focusing on delivering around them. We've got a diverse data initiative where we're really focused on making sure the research library, the National Genomic Research Library, our participants are representative of the UK population, so the discoveries that we're supporting are relevant to everyone; our cancer initiative which is exploring the use of new sequencing technology in the context of cancer, and also looking at the use of image data and other modalities of data, alongside generic data to drive new discoveries.   And then the third initiative is our newborn genomes programme, where we're asking a big question through a research study to generate evidence to ultimately answer the question: should every baby when they're born be offered whole genome sequencing? Most pressingly to improve and broader the range of conditions that we can look for that are severe and treatable. So, this year we're very much focused on delivering on those promises that we've made to our participants and our partners and through those programmes and very much with an eye to the future thinking about what we need to change in terms of the use of underpinning technology, so that we know that we've got the potential to scale, to think about the broader use of genomics in years to come as evidence evolves.   Helen: So Rich, there have been many advances in genomics in the last ten years. What do you think are the big lessons from those last ten years, and what do you think the next ten years will look like for the genomics ecosystem, what impact will this all have on healthcare as we know it?   Rich: So, genomics has changed extraordinarily in the last ten years thanks to shifts both in the technology, particularly the sequencing technology but also some of the computing technology that's there to deal with the scale of data. Ten years ago we were talking about the 100,000 genomes project and beginning the project itself, but it was still very early in the use of whole genome sequencing, that's gone from something where the big question around the 100,000 genomes project was: can this technology be used in routine care in cancer and for rare conditions, and if so, how do we do that?   And we've learnt both I think about that specific question and as I mentioned, we're enormously proud to be part of enabling the NHS whole genome sequencing clinical service, so that has entered routine care. I think along the way the biggest lesson for me is actually one about this being about partnership and about working as a team across many different organisations and with our participants, and recognising that this isn't just about one set of questions, or it's not just about clinical or scientific questions, it's about joining everything up together back to that point around, so a discussion about what people expect – this is about doing stuff together and learning often quite complex lessons about practicalities is one things, for example, one of the really big lessons we learnt around the use of whole genome sequencing in cancer are just practical lessons about handling of tissue samples and the need to make sure the right fridges are available on the right corridor of a hospital, with plugs available to plug them into, through to questions around, as I say, people's expectations around how their data is stored, which it's used for, which again there's really strong precedent for, and as we explored, different uses of genomic technology, we shouldn't just take those previous answers for granted, we need to make sure we validate and check with people what their expectations are.   So I think that's the big one for me is sort of the number of different angles with which one explores questions and the fact that this is very much about doing it together. I think just one other piece which is so easy for us here to take for granted is that doing things at national scale with national scale investment from government, from other funders and from the NHS is absolutely critical and when you look across the world, we are in an extraordinarily privileged position here in this country because of that investment and because that investment recognises the need critically to join clinical care and research in a whole, where you recognise that you're doing multiple things at once, but joining them up rather than them being two worlds, is really, really critical, and we're really lucky to be able to do that at national scale.   So then thinking about what the next ten years might look like for the genomics ecosystem, I think lots of those things continue, so I think national scale and the need for ongoing investment to keep up our position at the forefront in terms of answering these big questions about the use of genomics in healthcare, and to where the evidence supports their implementation to roll them out and keep that link there between healthcare and research, and so making sure the systems talk to each other and I mean that in a digital sense as well as a human sense is absolutely critical.   And then, so in ten years' time what are the areas of healthcare that will have been impacted, or could have been impacted by genomics, I'm really pleased that we're doing a better job for families with rare conditions and people with cancer than we were ten years ago, I think there's a long distance left to run even in those settings for us to do better and to continue to learn, so we expect our major focus to continue to be in those areas where we know they can have an impact and there's more to do. We also then have the different areas where if the evidence pans out to support the use of genomics or if we can implement systems that can support it there can be a big sort of area of growth. For example, our newborn genomes programme is asking questions and developing evidence so that in the future policymakers can decide should that become part of routine care, and I think that's something that could have become part of routine care in the next ten years if the evidence supports it and if that's something that the public support.    If I were to pick one other area where there's a real potential for growth in the coming handful of years it's in something we refer to as pharmacogenomics. What that means is looking at your DNA code (genomics) to help make decisions about prescription of medicines and sometimes that's about avoiding these medicines in people who are at a higher risk of having an adverse reaction, or it's about tailoring the dose because of something about for example the way the person metabolises, chews up, the medicine and so can influence how much dose they need. That actually has an enormous potential; we all have variations in our DNA code that influence how we respond to or metabolise medicines. If you look across primary care, GPs and so forth, primary care physicians and in secondary care, hospital care, I think there's good evidence that actually probably half of all appointments, interactions in those settings, if you were to have DNA data available that could influence how prescription choices are made; sometimes that's about knowing that you're doing the right thing, giving the normal prescription, but sometimes it's about modifying it, that's an area where I think there's a real potential for growth and that's an area that the NHS also really recognise and we're exploring ways in which we might look into that and think about how that might be implemented, because actually a lot of the questions there are about how you make sure the right data, the right information is available to clinical teams and patients at the time that prescriptions are being made.   There's also real potential more broadly in thinking about more common disease settings, there's lots of work going on from various research studies looking at the value of what people sometimes refer to as polygenic risk scores or integrated risk scores, where we use genomics as an element of estimating risk for common diseases like heart disease or cancer, that's something where the evidence is being worked on and is developing, I think we'll see a lot of evidence come out in the coming years and I think that will then influence how we implement genomics to help as part of that risk estimation process, which is routine now in GP practices where you go for an NHS health-check they do it with lots of complicated stuff, at the moment not genomics, and we'll see how that plays out in the years to come.   So I think there's enormous room for growth where genomics where at the moment it's making an important difference to people with certain conditions that we can do better on. In the future I see it becoming very much more part of the routine day to day of healthcare. As we make that transition there's lots to work through about the evidence, the order in which that's done and the way in which we, for example, store data, and make people part of the choice about how their data is used and what I'm really excited about in Genomics England is the role we play in the middle of that, bringing our particular expertise around what we call bioinformatics, which is sort of managing genomic data at big scale, particularly national scale to support healthcare and research, generating evidence that can help inform policy, and also critically drawing things together into the conversation amongst different players in the ecosystem and participants in the public so that we can not just think about evidence in a sort of terribly scientific way but we think about it in the round.   Helen: That's really interesting to hear you speak a lot about getting that evidence because that's critical, but that takes a long time doesn't it, so for example with the generation study, the newborn study it's really important to measure the benefits of that if you're testing young babies, newborn babies for diseases that if you pick up a condition that condition can be treated and something can be done about it early rather than poor parents going through this diagnostic odyssey, but also it's that balance isn't it with not leading to any harm, so if a number of parents come out of that thinking their baby might get a condition and it never happens there's potential there isn't there. But I think in terms of the public understanding of how long it takes to get evidence and everything else that needs to go on in the background I don't think it's always particularly clear that that's a massive process that has to be gone through and there's a lot of work going on behind the scenes – you can't just do these things.   I think as patients/members of the public we're eager to get on and for change to happen and things to be better but it's a big, big process, but also good to hear that you talk about it being a collaborative approach, it's not just Genomics England, it's the NHS, it's members of the public and patient voices, it's other organisations working in partnership, it's a big undertaking.   Rich: No, it is and I think that one of the words you used there was impatience, and I think that's healthy and important to recognise, it can be easy, particularly for example as a doctor, sat in a clinic room to accept the status quo, and at the same time, one needs to recognise the complexity of the questions, the balance, the need to generate high-quality evidence to inform those opinions and I think combining both that sort of impatience and dissatisfaction with the status quo, and that mind-set about thinking really thoroughly and collaboratively about the right evidence that is needed to change policy.   Helen: Yes, really important that those patient voices are there from the beginning, from the planning of obtaining this evidence and that you're measuring the things that matter most.   Rich: One of the areas where I think we've seen that play out, another area where I really see the potential for growth in the future is much more genomics-enabled treatments. We and you and the participant panel have helped us think about there's a whole new era I see coming in terms of the therapies that are directed at the causes of genomic conditions, both in rare conditions and in cancer and thinking as we do that about how we structure the system to generate evidence and to respond to it and have a conversation about what the right balance of evidence for patients to make a choice about their own care, but also policymakers to make choices about funding, decisions and safety decisions, is really important and we've been supporting to a wider work in cancer in the UK called the Cancer Vaccine Launchpad, and likewise we're part of something we call the Rare Therapies Launchpad, where in those two areas we're exploring that, and that's another area I think of real potential in the coming years, and also real nuance as we construct a way of navigating that together and making the most of the potential, but not just sort of rushing in and pretending we know all of the answers at the outset.   Helen: And those launchpads are of particular interest to participants in the wider patient population, there are a lot of people and children with rare, ultra-rare conditions who are desperate for treatments that just aren't available right now, equally for cancer patients there's a big need isn't there for more effective treatments, fewer side effects, that target that person's particular cancer, so it's good news I think for the wider public.   It does seem that innovation and partnerships are crucial to Genomics England's activities so how does Genomics England ensure that participant and wider patient benefit are at the heart of these activities?   Rich: I think one of the really important things is actually governance is sometimes a boring word, sounds like it, but I think thinking about how we've structured the organisation and placed you, as the participant panel, as part of our governance to make sure that when we're thinking about for example access to data in the National Genomic Research Library, participants are sort of driving those decisions, it's an independent committee that makes those decisions with representation from our panel. One of the things is thinking about the governance and making sure that you as our participant panel hold us to account for the decisions that we're making, which I think is really critical.  I think then also as we've learnt a lot over the years, not always getting it right, about how we make sure that participants, or potential participants in the public are involved from the outset in the design of programmes because it always helps. I think certainly before I joined Genomics England I think I would have been unsure about the best ways of going about that and that brings with it sometimes a nervousness. I think the main advice I would say to people listening is to have confidence that just getting stuck in and have conversations is the way to do it. There are then also all sorts of expertise that we've really benefited from being to bear in terms of ways of doing that engagement work and that will come; the first thing is to have the confidence and the desire to put that at the centre of how you decide where your focus should be and how you design programmes.   Helen: I think Genomics England has been very successful with that by integrating that patient voice from the very early days and here we are what eight years on I think now, and yes, hopefully we'll be there for some time to come yet, as long as Genomics England exists. So Rich, with more and more health data being stored, how do we ensure that this sensitive personal data is stored and used safely and ethically across the genomics ecosystem. And actually while we're on this question, can you just explain what genomics ecosystem means, because we use that term I think quite a lot, but I think it's not necessarily understandable to the wider public? Rich: What I mean when I talk about it is I mean the mixture of different people, whether that's sometimes organisations, us, Genomics England, the NHS, the NIHR, National Institute for Health Research; industry partners whether they're people who are from pharma companies or from biotech, academic researchers, participants in programmes – everyone who comes together to work on genomics in the UK and a bit like the word as it's used in biology, it's a sort of busy ecosystem with all sorts of people playing their own role and then working together, and so I think it's a really important thing to recognise that we're part of that and in fact it's one of the things I love most about my role at Genomics England is thinking about all of the different partners that we need to work with and to those outside it I think it can also be a bit intimidating, because it's hard to keep up with who on earth everyone is. So then thinking about the question of how we make sure that data's stored and looked after and used in the ways that people expect and safely and so forth, I think that's absolutely at the heart of my role and our role. And I think one thing is actually always sort of starting at the: why are we doing this? What benefits are we seeking to bring to people? Is that what they expect? What have they signed up for if you like? But that's in a research study or when they've decided to say yes to having a particular test, which is the same in any part of medicine. And if we use that to drive our decisions, that's what's so critical. And so that's where thinking about programmes we run, and also the things that we think might be worth something that we should prioritise in the future is always first driven by the benefit that you might be bringing, weighing up the costs and the potential downsides and harm that might be caused by the use of genomic data in that way and that's what should always drive things, and there isn't a one-size-fits-all, you know, genomic data should be used and stored in this way and that's one of the things that I think making sure that participants and the public are at the centre of the conversation is absolutely critical, it turns out that genomic data is very much like health data at large in many senses and it's very precious for those reasons. It is also special in a few ways. One of the ways that's sort of peculiar if you like is that pretty much the DNA sequence, the genome, that you're born with, is the same one that you hold throughout your life, that's different from say if you do a blood count or something that varies for various reasons over your life and most things in medicine do change quite meaningfully over a much shorter time period. One of the things about the DNA code: A) it makes it more precious because it's very much about you, your whole life; also it makes it more useful and reuseable in many ways, so one of the things that we think about a lot more in genomics is about the storage and reuse of data on an ongoing basis through the lifetime. And I do think that that model in certain settings and potentially more broadly as evidence accumulates, may well be the path that we take forward where you consider your genomic data part of your health record where it can be used and reused. And what we need to do is explore why you would in the first case generate someone's DNA sequence, and what sort of sequence, is it a whole genome or less than a whole genome? What would you use it for in the first place when you first generate it? And what other uses could there be to support the healthcare and have you involved them or the public more generally in decisions about how it's used? Because we do, as I said, see the potential for genomics being just becoming part of the fabric if you like of healthcare, good healthcare, the best healthcare.   Linked to that is the point on research as well, like where people are happy for it, holding their genomic data and understanding how that impacts on longer term health outcomes, something we'll continue to learn about for years and years. So I think the first point is about focusing on the why and whose data it is, one's own genome belongs to you, it doesn't belong to anyone else, what people are happy with and consent to and expect and then always holding that in mind as one makes the choices is critical. I've talked about how we think the governance and the involvement of the participant panel is really critical for that as well. And then it also comes down to doing in various ways, the job that people would expect in terms of, for example, that safety piece, using the very latest tooling to make sure that it's held in a secure way, that it's backed up so that it won't be lost etc. and bringing sort of the right, very good minds around some of those more technical questions, but always with the expectations of the people whose genomes they are in mind and to say are we living up to their expectations, are we doing what they would expect?   So, Helen, I wondered if I could ask you a couple of questions. The first one I wanted to ask is what you're hopeful for in the coming years as a participant panel member?   Helen: Thank you. I've actually already posed these questions to some of the other panel members, so I'll try and make sure I include their responses here as well as mine, but I think it's important to hear from everybody, not just me, Rebecca Middleton and Emma Walters have recorded their responses as well. I think the four main things that panel members are hopeful for is the coming years, the first is equitable access to whole genome sequencing, basically everybody who needs whole genome sequencing should get access to it regardless of where they live, their income, ethnicity or disability, so that's something that we're hopeful will get better over the years.   We know this is essential to improving healthcare, to improving outcomes for patients and generally for sort of greater inclusivity and in genomic research, we want as well as Genomics England, the data is the National Genomics Research Library to be representative of the population as a whole, not just the people who 1) are offered, and 2) agree to have their data in the library. And also, obviously the more data that is held in that library, the more opportunity there is for research across those rare and ultra rare conditions and rare and less common cancers, where it's all about numbers, you need numbers of sets of data in order to draw things together and make conclusions to look for patterns.  And the other thing which I guess comes more under the umbrella of the NHS is that the panel is quite keen, they want everybody who's undergoing genomic testing to receive good support and after care, I think regardless of whether that testing is via the NHS or as part of a research study, sometimes it will be both, but that's for the patients at the coal face that is obviously critically important.  The second, I think broad theme, coming from the panel members' responses is that I think you've mentioned this already, is increased understanding of genomics amongst the general public is really important – there's a need to demystify genomics and to generally improve public awareness of its benefits and to get those conversations going around its regulation and its ethical use, but to do that you need to get meaningful engagement from a wide range of people, you know, that's not always straightforward, there are lots of challenges there, it's all about prioritising inclusivity, accessibility, to make sure you get diverse views and perspectives on genomics and on genomics research.   The other thing that came out very strongly from the responses which we have talked quite a bit about already is about this individualised healthcare. I think we as a panel are very hopeful that there will be this shift towards treatment strategies that are tailored more to the individual and their specific health condition, rather than a one-size-fits-all approach, we want effective treatments that will minimise side effects but also through the use of pharmacogenomics, to make sure if there's a risk of a severe, sometimes life-threatening side effect that that can be identified and that individual doesn't have that treatment either at all or has a lower dose, so it's not so toxic.   And let's hear from Emma who talks about this.  Emma: My hope is that we move to a truly individualised healthcare system and I'm really excited to see how in particular pharmacogenomics changes the healthcare landscape. For a long time we've gone with a one-size-fits-all approach, and that's easy to deliver on a large scale basis that the NHS works on, but we know fundamentally that's not how patients work, so to be able to consider individualising medication and knowing which won't work, interests and excites me.   Helen: So the panel is also very hopeful about the development of those innovative therapies, and you talked about the rare therapies launchpad and the cancer vaccine launchpad, because those offer real hope for treating previously untreatable conditions and generally improving accessibility to treatments. And we're also hopeful that there will be a much better understanding of diagnosis of cancer, through things like the multi-model programme, because although there's lots and lots of research going on with cancer there's still a long way to go to have more effective treatments and to improve diagnosis of cancer.   And then just finally just in response to your question, patient and public involvement, this is what the participant panel is all about, we are a group of individuals whose lives have all been touched by either a rare condition or by cancer currently, either we've had that condition ourselves or it's affected our loved one, and we do bring these diverse views and perspectives to Genomics England and I think we have a crucial role in influencing its decisions about what it does with participant data and who has access to that data. It's critically important that Genomics England listens to what matters to the people whose data it holds and who do that, as Rebecca here explains.  Rebecca: Genomics is a fast-moving science and it has the impact to change lives and healthcare for future generations, but genomics is a science of people and therefore the only way you can truly understand the limitations and opportunities of it is to talk eye to eye to the very people it will impact, and not everyone will agree on everything. But how we understand genomics and its power to transform healthcare, our own and that of our children and the ones we love, can only progress at the pace of the people that it will benefit. It's a simple equation but it's not maths and indeed not science: we are all different and unique, our emotions, experience and history will be wrapped up in our viewpoints and thoughts, and that's where the panel comes in, representing and advocating for the very many different voices of genomic healthcare, ensures Genomics England is stronger, healthcare design is more meaningful and research is more impactful.  I have no doubt that the panel of the future will continue to be heard and understood at Genomics England, and I hope it continues to grow to reflect more diverse voices and experiences and continues to be the people inside the science.   Helen: Finally, the panel is also hopeful for increased public and patient involvement in genomics research, this is integral for shaping research both academic and commercial, it helps with identifying research priorities, developing new treatments, basically getting that voice of the patient in there to tell researchers what's the most important and what matters to them.  Rich: So another question Helen, how do the panel feel about the changing genomics landscape? Helen: A good question and I think overall it's a balance between excitement and hope on the one hand, and a bit of apprehension and caution on the other. So the panel is really excited about the advances going on in healthcare, we're entering an age now where we're promised a much more proactive, as opposed to reactive approach to healthcare. You were talking earlier Rich, about having your genome sequence, and this is something that you have for life, it's like your passport, your fingerprint, so from infancy to old age you've got this data which is held somewhere which holds so much promise of predicting if you might develop a disease, whether you might react badly to a drug, so ultimately it offers great potential to improve outcomes for patients, their families and the NHS. Again, we spoke earlier about this holds so much promise for producing the diagnostic odyssey that so many parents go through when the children are born with a condition that doesn't have a diagnosis, potential to diagnose things like cancer a lot earlier where it's more treatable and to prevent disease as well, I know that's something Genomics England isn't specifically looking at, but through screening programmes, using things for example like circulating DNA which may be able to pick up that there are things going on and picking things up earlier means that those things can be dealt with earlier.  I mean thinking of my own personal example, I know I have Lynch Syndrome, I know that I am at risk of developing bowel cancer now, but that means I can do something about it. So I have my colonoscopies every two years, I take aspirin every day because that reduces my chance of getting bowel cancers and I'm much more symptom-aware, so having that knowledge up front is very helpful in being able to move forward and reduce my chance of getting an advanced cancer.  The panel is also very excited about the ongoing collaborations and the novel therapies that are being developed through the rare therapies launchpad, these offer a lot of hope for treating previously untreatable conditions, and improving accessibility to treatments, and obviously more targeted treatments for cancer, you know, we'd need more effective treatments for cancer but with reduced side effects, so that in a nutshell, those are the other positive sort of things that the panel feel excited about. Where they're slightly more apprehensive or concerned, I mean they do acknowledge that there are challenges ahead and there are big concerns about the NHS's ability to cope with increase in demand for genomic testing and particularly worries about education and training of healthcare professionals in genomics, how do they effectively communicate research findings or results to patients if they don't have a broad understanding of genomics?  And then finally, let's hear from Emma.  Emma: I think I'm excited but cautious. I think it's really important to acknowledge that the research being undertaken is groundbreaking and the vast majority of clinicians have very little to know genomics education, and translating these findings into tangible benefits for participants is so very important, and something I think we've really got to make sure we don't lose sight of.   Helen: We talked earlier about awareness among the public about genomics and we do feel that there's a need to drive education forwards, you know but this is challenging, given the rapid pace of developments that we've spoken about, I think even for the panel members who I would say are relative experts in genomics now it's hard to keep up to date, so how do we do that moving forwards? We've talked about security of data, we understand there are moves to link more genomic data sets both nationally and internationally and that clearly has significant benefits because that brings bigger numbers of patients data together, but opens up potential risks in terms of security, so how do we make sure that the security of that data is as good as it is currently when it's held in one pot in Genomics England Research Library.   And just a couple of final concerns that were flagged by panel members, there is some apprehension regarding potential misuse with genomic data by insurance companies; we're given a lot of reassurance about that but there are concerns that could potentially lead to the most vulnerable in society being unable to get affordable cover if they're found to have genomic changes that mean they are at risk of conditions or have certain conditions and there are also concerns about the ethical implications of AI in diagnosis and clinical decision making, you know, AI is obviously a fantastic thing for looking at patterns amongst a big lot of data, but how accurate is it and where does the human come in, in terms of decision making?   So those are, I think, the broad concerns from the panel. I don't know if you have any thoughts on those, Rich? Rich: I think the big thing to say is I think having the participant panel there, you said in the middle of that, become collectively quite expert and you recognise that. Having the ability to have these complex nuance conversations and have people share that and speak directly to us about it I think is the biggest thing – lots of those points there made by the panel, I think both things that we have very much in our mind about things that one needs to balance and focus on, and there are also things that we already talk about which is reassuring I think as well, we talk about with the panel. I think one of the things for us as well is sort of being clear on some of the things where there are really clearly well-established red lines, for example, that point on insurance, but that is very clear and part of our role is making sure that that is there and people can feel comfortable in that context to understand that.  I think the main thing that I would say is thank you to you Helen, and to all of the panel and all of our participants because I said earlier, this is a team thing and you are all very much part of the team and we would not be able to do our jobs in any way, I wouldn't even say effectively, I would say with the relevance, which is the thing that we drive for, the relevance to have impact for people's lives whose data we hold and will hold in the future. And so thank you for being part of the team. Helen: Thank you. And I think thank you to Genomics England for having the foresight to create the participant panel in the first instance, it was there from the get-go and I think a really great opportunity for all of us to be involved in this, to have our voices heard and listened to, so thank you.  We'll wrap up there. Thank you for joining me today and thank you for discussing your appointment as CEO for Genomic England, and your view on what the genomics ecosystem might look like over the next ten years. If you would like to hear more like this, please subscribe to the Behind the Genes, on your favourite podcast app. Thank you for listening. I've been your host, Helen White. This podcast was edited by Bill Griffin at Ventoux Digital, and produced by Naimah Callachand. 

Kimberly Brockman is a 57-year-old pancreatic cancer survivor from Iowa. She had a history of preventative care, including a breast lumpectomy in her thirties and keeping up with regular screenings due to her family's extensive history of cancer. Amidst the COVID-19 pandemic, she experienced symptoms such as difficulty swallowing, heartburn, and bowel issues, but felt her symptoms were being put on hold due to overwhelmed medical facilities. With her background in oncology, she sought medical attention and was diagnosed with Barrett's esophagus. Her genetic test results revealed that she had Lynch Syndrome, specifically MSH2 and MHS6, which prompted further preventative measures including a hysterectomy and regular scans. During one of these scans, an irregular signal led to the discovery of pancreatic adenocarcinoma. Despite the grim diagnosis, Kimberly's mother, who also had the same genetic mutation, had overcome inoperable pancreatic cancer and was in remission for nearly a decade at the time of Kimberly's diagnosis. Kimberly underwent immunotherapy and folfirinox chemotherapy simultaneously, responding well to the treatment. When it came time to undergo the Whipple Procedure, Kimberly's doctors found that her tumor had disappeared, and she instead underwent a pylorus-preserving pancreatoduodenectomy procedure. Additional treatment followed, leading to her being declared cancer-free as of this past April. In an episode, Kimberly discusses her experience with Lynch Syndrome and stresses the importance of advocacy and understanding genetic risk factors. She credits her positive outlook and the support from her mother's experience as significant factors in overcoming pancreatic cancer. Join us for this episode of the Project Purple Podcast to learn more about genetics and the power of a positive mindset while battling pancreatic cancer. If you'd like to donate to Project Purple's mission of a world without pancreatic cancer, please visit https://www.projectpurple.org/. Connect with Kimberly on Facebook: https://www.facebook.com/barefoot.boutiki To learn more about Project Purple, visit https://www.projectpurple.org/ or follow us on social media at these links: https://www.facebook.com/Run4ProjectPurple https://www.instagram.com/projectpurple/ https://twitter.com/Run4Purple https://www.youtube.com/channel/UCgA8nVhUY6_MLj5z3rnDQZ

Send us a Text Message.In this episode of Lessons From Leroy, host Leroy Smith interviews Junius Nottingham Jr., former Federal Agent and current Executive Director of the National Anti-Fraud Department for Blue Cross / Blue Shield Association.  He is also the Founder and CEO of J-NOTT-GTT Foundation, which is dedicated to raising awareness of Lynch Syndrome, that is estimated to affect 1 in 279 people or almost 1.2 million individuals in the United States.   Their discussion promises to be riveting and informative...Tune-In and Enjoy!You can get more information and donate to the J-NOTT-GTT Foundation at the following:  www.jnottgtt.org or by contacting Lessons From Leroy at info@lessonsfromleroy.comThank you for listening! Send comments and episode suggestions to: info@lessonsfromleroy.com or Leroy@lessonsfromleroy.com

I sit down with LeeAnne Hayden, Lynch Syndrome patient, ostomy patient, and host of The Beautiful Bag podcast.  Not only does she have an inspirational story, but she is also the first and only (so far) lynch syndrome podcaster that I've had on.  LeeAnne has adjusted to her new lifestyle and is upfront that it's an adjustment that takes time, but like anything, she hits it head-on.  LeeAnne is sharing her ostomy experience so others can benefit.  

I sit down with Alison Rosen, colon cancer survivor and lead on Project Echo for the American Cancer Society.  We talk about young adult survivorship, cancer advocacy and of course Lynch Syndrome. While Alison was 32 at diagnosis, she (so far) has tested negative for anything genetic, which was surprising given the family history of cancer.  Apparently we were on a podcast together in 2012 or so (someone look it up) so Alison looked me when it was time to potentially get an ostomy.  Project ECHO (Extension for Community Health Outcomes) bringing subject matter experts with participants from many walks.  All teach all learn is the motto.  Successes and failures, tools, and more.  Allison is co-chairing the Art and Science of Hope panel at ASCO.   

Colorectal cancer, also called colon cancer or rectal cancer, is one of the most treatable cancers when found early. However, it is also the most common type of gastrointestinal cancer and is the second leading cause of cancer deaths in the United States. For decades, colorectal cancer was most often diagnosed in people aged 50 and over. More recently, the incidence of colorectal cancer has declined in people 50 and over, while dramatically increasing in younger people. Because of this shift, the American Cancer Society recently revised its colorectal cancer screening guidelines for people at average risk. According to the updated guidelines, individuals at average risk of colorectal cancer should have regular screening for colon cancer beginning at age 45. On this episode of the Bench to Bedside podcast, Dr. Roy Jensen, vice chancellor and director of The University of Kansas Cancer Center, discusses this topic with Dr. John Ashcraft, Associate Professor of Surgery and Division Chief of the Colorectal & Oncologic Surgery Division at the University of Kansas Medical Center, and Dr. Raed Al-Rajabi, Associate Professor of medicine in the division of medical oncology and leader of the gastrointestinal medical oncology group at the University of Kansas Medical Center. Links from this Episode:  Read the new American Cancer Society guidelines for colon cancer screening Learn more about colon cancer screening and treatment at KU Cancer Center Read about Dr. Ajay Bansal's Lynch Syndrome research and clinic Learn more about Dr. John Ashcraft and Dr. Raed Al-Rajabi After listening to this episode, we invite YOU to be a part of the podcast! We want to hear your thoughts on the conversations we have here, topics you'd like to learn more about and any questions you may have for our guests. Call our Bench to Bedside hotline at 913-588-3880 and leave us a voicemail, or you can email your comments and questions to benchtobedside@kumc.edu. Your comments may be shared on a future episode!

This week's episode will be focusing on genetic syndromes with increased risk of malignancies. In Part 1 we discuss Li-Fraumeni, Lynch Syndrome, FAP, BRCA 1 and 2, and Cowden's syndrome.

Full disclosure, we recorded this in February, just as the Alabama Supreme Court IVF decision was handed down.  I sit down with Scott Weissman, Genetic Counselor and so much more, at the Norton & Elaine Sarnoff Center for Jewish Genetics.  Statistically we're all carriers for something in the carrier screening space, but also statistically it's very low for both partners to be carriers for the same mutation.  Interestingly, Illinois has specific issues geographically as it borders a number of states that have strict reproductive rights issues, including abortion and family planning.  We did discuss hereditary cancer, including CMMRD, constitutional mismatch repair deficiency.  We also discussed the potential Lynch Syndrome vaccines and how the current backlash against science and vaccinations could be detriments to moving forward.  We did get into socioeconomic issues, not just political and philosophical, but I think we're on a similar page.  Whatever hair we had left is gone.    

I sit down with Dr Asaf Maoz, Medical Oncologist at Dana Farber Cancer Institute, who I recently saw at the LynkedIn and Scientific Symposium.  We discussed what brought Dr Maoz to this point, discussing immunology, T-cells, receptors and targets.  Dr Maoz confirmed that not all Lynch cancers are MSI-H.  This year, for the 5 year anniversary of the patient LynkedIn conference, they had the scientific symposium the day before.  Dr Michael Foote from MSK presented some data on cancer risk after immunotherapy.  I appreciate the debates and conversations that take place at the symposiums, and how data will continue to drive innovation, but like anything, until you generate the data you can't hypothesize and stratify.  Of course we ventured into the cancer vaccine space and the unique molecular features of Lynch Syndrome and the potential to prevent cancer in the future.  Takeaway is to keep up with screening regardless.  We also discussed language barriers to healthcare overall, not just Lynch Syndrome, including how AI is being looked at in order to potentially find tidbits that are missed.  

Knowing your family's medical history is important and can save lives. “When we think of family history in terms of cancer genetics [and inherited genetic mutations], we think about a broad spectrum of relatives, more than just your parents and siblings,” said Leigha Senter, MS, CGC, a James licensed genetic counselor. “We ask about grandparents and aunts and uncles and cousins and that can inform us about how likely you have a hereditary predisposition for cancer.” Ohio State and the James have one of the largest and most advanced genetic counseling programs in the country. “We have 12 genetic counselors on the faculty supporting the cancer program and we have genetic counselors who specialize in specific types of cancer,” Senter said. In this episode, Senter discusses the two most common types of inherited genetic mutations that increase the cancer risk: the Breast Cancer gene (BRCA1 and BRCA2) that increases the risk of breast cancer as well as ovarian, pancreas and prostate cancer; and Lynch Syndrome, which increases the risk of colorectal cancer as well as uterine cancer. “The average woman has a 12 percent chance over the course of their lifetime of developing breast cancer,” Senter said. “Those with [BRCA1 and BRCA2] have anywhere from a 50 to 80 percent chance.” Uncovering inherited genetic mutations leads to earlier and more frequent screenings that can detect cancer in its earliest and most treatable stages. In the case of patients with Lynch Syndrome, earlier and more frequent colonoscopies “can actually prevent a cancer from happening,” Senter said. Cascade testing is one of Senter's specialties. “Someone in every family is always the first to test positive for an inherited genetic mutation,” she said. “The next step is to help them share this information with as many family members as possible. This is cascade testing and is where are real potential to help people is.”

Wei Shen, Ph.D., and Rhianna Urban, M.S., CGC, explain how Mayo Clinic Laboratories' gene panel establishes a diagnosis of Lynch syndrome, which heightens the risk for several cancers. Test results can guide cancer surveillance for patients and their families.(00:32) Would each of you share a little bit about yourselves and your background? Dr. Shen? (01:25) Rihanna, could we have you give a little background about yourself as well? (01:48) Could you provide us with an overview of Lynch syndrome? (03:44) Can you expand on why genetic testing for Lynch syndrome is so important? (06:03) Who would benefit from Lynch testing? (07:51) Is Lynch syndrome the only type of inherited predisposition to colon cancer? (08:48) Does the healthcare provider order these tests, and what kind of samples should be considered in these patients? (10:50) Are there any limitations to the types of variants that can be detected by this test? And how does Mayo Clinic Laboratories ensure comprehensive results for patients?(14:24) How are the results used in patient care? (16:33) Could you summarize the benefits of these tests and of doing them at Mayo Clinic Laboratories?

Lynch syndrome is a hereditary form of colorectal cancer. It is estimated that 1 in 279 people in the United States have this genetic predisposition but over 90% those people don't even know it. Today's guest, patient advocate Dave Dubin, was one of those people when he was first diagnosed with cancer at age 29. Dave is a 3x cancer survivor and has since started a non-profit foundation, Alive and Kick'n, (www.aliveandkickn.org/) to spread awareness of this genetic condition. Dave shares his patient story, the importance of genetic testing and early detection of cancers in the body, and how he's managed to live a full and vibrant life despite his condition.

Boise Podcast pro Cody Mitchell joined me on the podcast as we talked Lynch Syndrome as she approaches her 4th cancerversary of endometrial cancer.  Cody has been able to turn her diagnosis into knowledge and cohesion among her network.  Cody is considered de novo as she is the first in the family to have a lynch mutation.  Cody's genetic counselor recommended AliveAndKickn and she appreciated that we are living with Lynch, and the information is coming from reliable sources, especially in a world of misinformation.  Cody and I are also on Peloton together, so she shared her story of getting her Peloton during treatment, which of course during Covid.  She gives credit to her oncology physical therapist who recommended an exercise regimen, and cites the benefit of exercise and consistency to maintaining her identity.  Her numbers actually improved during treatment.  I won't give away Cody's favorite Peloton instructors, so you have to listen for yourself.  I tell the story of my one and only time doing Peloton meditation in the studio.     

The number of younger patients diagnosed with colorectal cancer is on the rise. “We always used to say at age 50 get your first colorectal screening, and now we've dropped that to 45,” said Samuel Akinyeye, MD, an Ohio State gastroenterologist. “And the reason is we're seeing younger people being diagnosed with colorectal cancer … I'm seeing younger patients in my clinic.” In this episode, Akinyeye discusses several of the reasons for the increase, including the impact of unhealthy diets and sedentary lifestyles, and the role of family history and inherited genetic mutations that increase the risk of colorectal cancer. “We're eating more processed foods and greasy, fatty foods that are pro-inflammatory,” he said, adding obesity and inflammation increase the risk of cancer. He also talks about the importance of screenings, such as colonoscopies, and how they can reduce the number of colorectal cancer diagnoses and deaths. “Colonoscopies are the gold standard of screening,” Akinyeye said, adding they detect and pre-cancerous polyps that are then removed before they actually become cancerour and spread to other parts of the body. “Screenings save lives,” he said. Knowing your family history and discussing it with your primary care physician is vital. “We have a saying, that family secrets kill families,” Akinyeye said, adding people with a family history of colorectal cancer or even high-risk polyps should start screenings even earlier than 45. “People aren't getting screened as early as necessary because they're not aware of their family history.” Inherited genetic mutation, such as Lynch Syndrome, “greatly increase the chances of developing colorectal cancer and other types of cancer,” Akinyeye said.

Eleanor first interviewed Melanie in 2018. She was 29 years old at the time and had received a diagnosis of Lynch syndrome just before turning 25. Melanie shared her experience with receiving a diagnosis, recommended screenings and related challenges with health insurance coverage, and how Lynch impacted her experience with dating and thinking about having her own family one day. Today, Melanie is 35, recently married, and 28 weeks pregnant! In Next Chapter interviews, we check back in with previous guests on Patient Stories to see how their stories have continued to unfold.  Links and Resources FORCE (Facing Our Risk Empowered) AliveAndKickin Connect with Melanie on Social Media Melanie on Twitter: @melaniebkursun Melanie on Instagram: @melaniebkursun Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page. Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club! Do you want to support Patient Stories? You can make a donation online! Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Looking for a place to collect your family history and share with relatives? Check out the FamGenix app. Grey Genetics is no longer active on social media. To receive occasional email updates, sign up for our mailing list. --- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message

I sit down with the Awkward Angler herself, Erica Nelson, from west of Denver in Crested Butte, Colorado.  Erica is a flyfishing guide in the Valley with a Lynch Syndrome story and so much more.  Erica also does consulting on diversity, equity and inclusion with her own podcast.  The organization Brown Folks Fishing has a number of programs around conservation, but also looking at leadership roles.  Angling for All addresses inequality in fishing, talks about reconciling and navigating our own identities and creating action.  True diversity work is in the recovery. Erica is the second indigenous flyfishing guide in Colorado.   I learned about Hozho, the term for balance and beauty in everything.  The loss of her mom unexpectedly coincided with pain that caused her to get checked and she had cancer.  She had a hysterectomy, and learned she inherited MLH1 from her father.  Erica is balancing the grief of losing her mother and the changes in her body.  Erica disclosed that she postponed her urgent surgery to go on a trip to Brazil that she had been planning for some time.  Obviously she's ok, so...good decision/bad decision.  

I sit down with Dianne Hammer, who shares her Lynch Syndrome story for the first time on a podcast.  Recently diagnosed, Diane is still a previvor, although she found pre-cancer when she had her hysterectomy.  She's also unsure which side of her family she inherited her mutation.  An avid writer and reader, Diane was also sexually assaulted while working at a bookstore at knifepoint.  Although able to fight him off, the person had assaulted others, and eventually caught and put away.  Diane became a changed person after the experience, similar but not the same as cancer, a car accident, etc.  As a researcher, Diane found no resources for middle aged sexual assault, so she built her own platform.  Sexual assault is not about age, sex, desirability.  It's about power and control.  I was caught off guard about the dramatic number of sexual assaults that occur, taking into account the ones that aren't even reported.  I'm guessing there are people out there who could benefit from Diane's experience and the community she is creating.

I sit down with Rachel Travis, otherwise known as the TattedRayofSunshine.  Not only does Rachel have a Lynch Syndrome colorectal and peritoneal cancer story, but also an alcohol, a firearms, a weight, a childhood trauma, rape and more.  Rachel hopes that her diagnosis was a wakeup call for others, including her family.  Through her faith, she feels she can smile and laugh and get through this, and just about anything else.  We're both hopeful for the future.   

Your Genetics are a key part of my TUSHY Method (Y = Your genetics) and I'm so honored to have Dena Goldberg (also known far and wide as Dena DNA) joining me today! Some of the questions I know you have on your mind about genetics are: Nothing came back on my 23 & Me test. I'm good to go, right? Answer: Not so fast. 23&Me relies on "SNP testing," and only looks at "very specific bookmarks on very random genes." You'll want a more thorough test for preconception screening. I don't have any history of disease in my family. Do I need to do genetic testing? Answer: It's a good idea. There are syndromes such as Lynch Syndrome that are asymptomatic in 90% of people who are carriers. You'll want to know if you have those genetic markers before passing them on to your embryo and child. Can you make sure my embryo doesn't have autism? Answer: Autism is actually a description of a constellation of symptoms. So it's not an underlying condition in and of itself. There are hundreds to thousands of genetic causes to autism. We can catch some of these cases, but not all. Autism is multifactorial, meaning that many of these cases are probably caused by a combination of genetics and environment or in other words, nature and nurture together. Thank you for joining me, Dena! Listen on Dr. Aimee's website Do you have questions about IVF? Join Dr. Aimee for The IVF Class at The Egg Whisperer School. The class includes a live class call where Dr. Aimee will explain IVF and there will be time to ask her your questions live on Zoom. Find Dena's site here: https://www.denadna.com/home Subscribe to my YouTube channel for more fertility tips! Join Egg Whisperer School Checkout the podcast Subscribe to the newsletter to get updates Dr. Aimee Eyvazzadeh is one of America's most well known fertility doctors. Her success rate at baby-making is what gives future parents hope when all hope is lost. She pioneered the TUSHY Method and BALLS Method to decrease your time to pregnancy. Learn more about the TUSHY Method and find a wealth of fertility resources at www.draimee.org.

I sit down with Michelle Vinibaltas, who has been having colonoscopies for 20 years, developed skin cancer 12 years ago, but only got tested for Lynch Syndrome recently.  Even as a life coach with tools for mitigating it, Michelle still gets a little anxious before screenings.  Michelle works with women that struggle with food and body image.  Finding balance and a positive relationship with food is difficult for so many of us, including those who have had cancer issues.  It all ties into how we respond goingt to the doctors for screening.  

In this journal club episode, my guest is Dr. Peter Attia, M.D., a Stanford and Johns Hopkins-trained physician focusing on healthspan and lifespan and the host of The Drive podcast. We each present a peer-reviewed scientific paper chosen because it contains novel, interesting, and actionable data. First, we discuss a paper on how bright light exposure at sunrise and throughout the day and dark exposure at night independently improve mental health and can offset some of the major symptoms of mental health disorders such as depression and anxiety. Then, we discuss an article that explores a novel class of immunotherapy treatments to combat cancer. We also discuss some of the new data on low-calorie sweeteners and if they are safe. This episode should be of interest to listeners curious about maximizing their vitality and longevity and to anyone seeking science-supported ways to improve mental health and lifespan. For show notes, including referenced articles and additional resources, please visit hubermanlab.com. Thank you to our sponsors AG1: https://drinkag1.com/huberman Eight Sleep: https://www.eightsleep.com/huberman BetterHelp: https://betterhelp.com/huberman Joovv: https://joovv.com/huberman LMNT: https://drinklmnt.com/huberman Momentous: https://livemomentous.com/huberman Timestamps (00:00:00) Dr. Peter Attia, Journal Club (00:02:40) Sponsors: Eight Sleep, BetterHelp & Joovv (00:07:14) Light, Dark & Mental Health; Retina (00:11:16) Outdoor vs. Indoor Light, Cataracts, Sunglasses (00:16:17) Tools: Sunrise & Sunsets, Circadian Rhythm; Midday Light (00:24:55) Tools: Night & Light Exposure; Waking Before Sunrise (00:31:05) Article #1, Light/Dark Exposure & Mental Health (00:36:50) Sponsor: AG1 (00:38:18) Odds Ratio, Hazard Ratio (00:45:43) Night vs. Daylight Exposure, Mental Health Disorders (00:51:35) Major Depression & Light Exposure; Error Bars & Significance (00:59:15) Sponsor: LMNT (01:00:39) Prescriptions; Environmental & Artificial Light; Red Lights (01:08:14) Nighttime Light Exposure; Sleep Trackers & Belief Effects (01:13:54) Light Directionality, Phone, Night (01:17:21) Light Wavelengths & Sensors; Sunglasses (01:20:58) Hawthorne Effect, Reverse Causality, Genetics (01:26:26) Artificial Sweeteners, Appetite (01:31:16) Natural Light Cycles, Circadian Rhythm & Mental Health (01:39:53) Article #2, Immune System & Cancer (01:43:18) T-Cell Activation; Viruses (01:50:41) Autoimmunity; Cancer & Immune System Evasion (02:00:09) Checkpoint Inhibitors, CTLA-4 (02:06:45) Anti-CTLA-4 Study Drug (Ipilimumab), Melanoma (02:12:07) Patient Population, Randomization, GP100 (02:18:09) Response Rate (02:22:52) Overall Survival & Response (02:28:38) Median Survival vs. Overall Survival, Drug Development (02:35:45) Gender & Dose (02:40:32) Adverse Events; Autoimmunity (02:46:42) Pancreatic Cancer; Aging & Immune System Health (02:53:57) Melanoma; Lynch Syndrome, Keytruda (02:58:43) Immunotherapy & Cancer Treatment; Melanoma Risk (03:06:26) Zero-Cost Support, Spotify & Apple Reviews, YouTube Feedback, Sponsors, Momentous, Social Media, Neural Network Newsletter Disclaimer

I sit down with Amber Eastman, Lynch Syndrome survivor, and member of the Confederated Tribes of Ronde in Oregon. Amber confirmed with me that women of color face a more difficult challenge in that they are often noit believed, that they're crying wolf when they come to the physician's office.  Thankfully, Amber met with a physician who had just attended a lynch syndrome seminar, and she was correctly diagnosed.  I love Amber's policy of never a victim, always victorious.  Not only did Amber have colon cancer and liver cancer, but also ovarian cancer.  Finding AliveAndkickn and being part of Living with Lynch gave Amber the impetus to become a Lynch Syndrome advocate in her community.  

This episode is hosted by Thomas Slavin, MD, FACMG, DABMD, a Chief Scientific Officer, and Emma Keel, MS, CGC, a genetic counselor, who have the privilege of speaking with Danielle Ripley-Burgess as she shares her story and experience on "Life After Total Proctocolectomy in Lynch Syndrome.”We're incredibly grateful that she took the time to share her story with us, and we hope it will give our members and the broader #HereditaryGICancer community greater insight into the patient's perspective. 

Your Genetics are a key part of my TUSHY Method (Y = Your genetics) and I'm so honored to have Dena Goldberg (also known far and wide as Dena DNA) joining me today! Some of the questions I know you have on your mind about genetics are: Nothing came back on my 23 & Me test. I'm good to go, right? Answer: Not so fast. 23&Me relies on "SNP testing," and only looks at "very specific bookmarks on very random genes." You'll want a more thorough test for preconception screening. I don't have any history of disease in my family. Do I need to do genetic testing? Answer: It's a good idea. There are syndromes such as Lynch Syndrome that are asymptomatic in 90% of people who are carriers. You'll want to know if you have those genetic markers before passing them on to your embryo and child. Can you make sure my embryo doesn't have autism? Answer: Autism is actually a description of a constellation of symptoms. So it's not an underlying condition in and of itself. There are hundreds to thousands of genetic causes to autism. We can catch some of these cases, but not all. Autism is multifactorial, meaning that many of these cases are probably caused by a combination of genetics and environment or in other words, nature and nurture together. Thank you for joining me, Dena! Listen on Dr. Aimee's website Do you have questions about IVF? Join Dr. Aimee for The IVF Class at The Egg Whisperer School. The next live class call is on Monday, October 30, 2023 at 4pm PST, where Dr. Aimee will explain IVF and there will be time to ask her your questions live on Zoom. Find Dena's site here: https://www.denadna.com/home Subscribe to my YouTube channel for more fertility tips! Join Egg Whisperer School Checkout the podcast Subscribe to the newsletter to get updates Dr. Aimee Eyvazzadeh is one of America's most well known fertility doctors. Her success rate at baby-making is what gives future parents hope when all hope is lost. She pioneered the TUSHY Method and BALLS Method to decrease your time to pregnancy. Learn more about the TUSHY Method and find a wealth of fertility resources at www.draimee.org.