Podcasts about cancer genomics

A new cancer research 'node' launched at University of Limerick will use data to 'save lives', it has been announced. The inaugural All-Island Forum for Cancer Data was held this Tuesday at UL, a landmark event that brought together world-renowned experts in cancer research, data science, genomics, the biomedical industry and patient advocates to explore innovative uses of data to advance cancer research and improve patient outcomes. Over 200 delegates were in attendance, including healthcare providers, researchers, policymakers, industry leaders, and patient organisations. The event was organised and hosted by the All-Island eHealth-Hub for Cancer and the Limerick Digital Cancer Research Centre, which is based at UL. This All-Island eHealth-Hub for Cancer, funded by the North South Shared Island Programme, is led by Professor Aedín Culhane, Professor of Cancer Genomics at UL and Professor Mark Lawler, Professor of Digital Health, Queen's University Belfast. Their goal is to strengthen cross-border data sharing and collaboration in cancer data research. At the event, the All-Island eHealth-Hub for Cancer announced the establishment of an Observational Health Data Sciences and Informatics National Node, the first collection of research institutes of its type on the island of Ireland. This will facilitate national and international cross border cancer data collaborations, empowering researchers from the island of Ireland to participate in large-scale, multi-centre cancer studies, while maintaining patient privacy and data security. Professor Aedín Culhane said: "We are excited to organise and host this conference with the Limerick Digital Cancer Research Centre, which is innovating, tackling challenges head-on and pioneering an all-island approach to clinical genomics data infrastructure that will transform cancer care. By connecting data, we connect patients to innovative research, life-changing treatments, and clinical trials. "This forum represents a unique opportunity for cross-sector collaboration examining innovative and affordable approaches to improve data-driven solutions to enhance outcomes for cancer patients across the island of Ireland. "Building world-class infrastructure will take time. During this conference we have learnt best practices from world leaders. Through collaboration, we can harness the collective power of information to accelerate discoveries and improve outcomes for patients in the Mid-West and throughout the island of Ireland." Professor Mark Lawler said: "This is a watershed moment for cancer patients on the island of Ireland. Establishing this national node promotes us to the premier league, positioning us to benefit from the latest advances in data-informed cancer research. "This will empower us to share data across the island and deploy the insights that we uncover to achieve earlier diagnosis, deliver better and more tolerated treatments and ensure enhanced quality-of-life and re-integration back into society. Make no mistake - data can save lives." The keynote address at the forum was delivered by Associate Professor Paul Nagy, Program Director of Informatics and Data Science, at Johns Hopkins University, USA, who focused on, 'How Connected Data Saves Lives'. Associate Professor Nagy's research focuses on developing biomarkers from medical imaging, his talk explored how connecting clinical imaging data siloes will accelerate clinical research in oncology. "Medical imaging plays a crucial role throughout oncology from early detection, diagnosis, treatment planning, to assessing the effectiveness of treatment and monitoring.? Unfortunately, imaging has traditionally been treated as an isolated silo of data managed separately from clinical treatment information," Associate Professor Nagy explained. "Connecting medical imaging directly with clinical treatment data with open standards allows us to vastly accelerate the biomedical research cycle," he added. See more stories here.

We're back for Series 4 of The Road to Genome! Kicking things off with a cracking talk to The Rapping Consultant, Clinical Geneticist Professor Julian Barwell.Julian talks to us about his career and work in Cancer Genomics, Fragile X, and the work he has done to make genomics accessible and engaging for all.

Tumor profiling or genomic testing can give us information about the genes in a person's cancer cells and can help guide doctors to the best possible treatment plan by predicting the risk of recurrence, or when breast cancer returns after initial treatment. If a low risk of recurrence is shown, people with breast cancer and their doctors can choose to pursue a less aggressive treatment plan with confidence. Here today to empower us with information about the power of genomics and to give further insight into how it can positively affect treatment decisions is Medical Oncologist, specializing in Breast Cancer and Cancer Genomics, and Chief Medical Officer at Agendia, Dr. William Audeh.

Send us a Text Message.This episode is part of a series of lectures called 'New Hope in Cancer' sponsored by Novartis.What do we mean by Cancer genomics? What are the introns in our DNA used for? Are they just a place-holder DNA or is there actual use for it? Should cancer care be delivered differently?These and many more questions were put to Sanjay for episode 12 of our new series!This podcast followed his lecture ‘How Cancer Genomics is Transforming Cancer Care' which was given on 23rd January 2024.You can find information about his lecture here:https://www.gresham.ac.uk/watch-now/cancer-genomicsSupport the Show.

The Participant Engagement and Cancer Genome Sequencing Network (PECGS) part of the Cancer Moonshot Initiative is a collaboration between the National Cancer Institute and research institutions to engage cancer patients directly and ultimately better understand cancer genomics. One of six funded projects is with Washington University, which is focusing on rare and understudied cancer populations with health disparities. Dr. Bettina Drake, professor at the university's School of Medicine, discusses how her team is studying molecular changes in tumors for cancers like cholangiocarcinoma, multiple myeloma in African Americans and colorectal cancer under age 50 in African Americans. NCI Program Director Dr. Leah Mechanic also discusses how the PECGS Network overall is advancing health equity and precision medicine efforts around cancer care and treatment. This is an in-depth peek into one of many programs within a broader collaborative effort to better understand cancer and accelerate the White House's Cancer Moonshot's mission to end cancer as we know it.

Prof. Serena Nik-Zainal has won international acclaim for her work in genomic cancer research, winning several accolades including the Josef Steiner award in 2019 and the Francis Crick Medal and Lecture 2022. To mark the International Day of Women and Girls in Science this month, we sit down with Prof. Serena to discuss her journey in genetic research and the progress in pursuit of gender equality in science academia.

Dr. Celina Nahyun Jo, one of the trainee editorial board members in Radiology: Imaging Cancer and a radiology resident at University of Texas Medical Branch in Galveston hosts our podcast series that summarizes interesting articles into a bite size. This podcast provides background knowledge for everyone to understand and enjoy oncologic imaging research on the go. This is bite size research for Radiology: Imaging Cancer, November 2023 issue."  Current Status of Cancer Genomics and Imaging Phenotypes: What Radiologists Need to Know. Serrão et al. Radiology: Imaging Cancer 2023; 5(6):e220153.

Using lung cancer as a case study, this lecture will explore the transformative impact of genomics on personalised cancer treatment.What are the challenges of implementing tumour sequencing in routine care, its effect on drug development, and how can we maximise clinical benefit? How is the new technology of circulating tumour DNA analysis (liquid biopsy) used by healthcare systems? What is the potential future impact of using DNA analysis to screen for cancers early?This lecture was recorded by Sanjay Popat on 23rd January 2024 at Barnard's Inn Hall, LondonThe transcript and downloadable versions of the lecture are available from the Gresham College website:https://www.gresham.ac.uk/watch-now/cancer-genomicsGresham College has offered free public lectures for over 400 years, thanks to the generosity of our supporters. There are currently over 2,500 lectures free to access. We believe that everyone should have the opportunity to learn from some of the greatest minds. To support Gresham's mission, please consider making a donation: https://gresham.ac.uk/support/Website:  https://gresham.ac.ukTwitter:  https://twitter.com/greshamcollegeFacebook: https://facebook.com/greshamcollegeInstagram: https://instagram.com/greshamcollegeSupport the show

It's that time again!  It's time for the Society of Actuaries, Research Institute, Research Insights Podcast Focus Edition.  Listen to Dale Hall, Managing Director of Research, discuss recent topics impacting the actuarial profession. This episode focuses on a serious health issue that has come to light recently, the new trends in cancer demographics.    Cancer Genomics:  https://www.soa.org/resources/research-reports/2019/cancer-genomics/   Send us your feedback or suggestions for more Focus Episodes at ResearchInsights@soa.org 

In this instalment of The G Word, our guests engage in a compelling discussion centred around a recently published paper that supports the integration of whole genome sequencing into standard cancer care.  Our guests shed light on the transformative potential of combining health data with whole genome data. Discover how this innovative approach empowers doctors to deliver more personalised and effective care. Our guests delve into the findings of a landmark national study, unravelling the significance of identifying inherited cancers for patients and their families. The episode explores not only the scientific advancements but also the real-world impact on individuals facing a cancer diagnosis.  Our host Naimah Callachand is joined by Dr Nirupa Murugaesu, a Consultant in medical oncology at Guy's and St Thomas' NHS Foundation Trust, and the Principal Clinician for Cancer Genomics and Clinical Studies at Genomics England.  And by Professor Sir Mark Caulfield, a Professor of Clinical Pharmacology at Queen Mary University of London, and who previously served as Chief Scientist for Genomics England and was instrumental in the delivery of the 100,000 Genomes Project.    "In cancer we were sequencing sections of the tumour and comparing them to DNA inherited from your mum and dad, and that comparison allows us to work out what is driving the cancer, what may be affecting its potential for treatment and how we might choose treatments for patients.  So this is a real opportunity to create precision cancer care."     You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Whole-genome-sequencing-in-cancer-care.docx   Naimah: Welcome to the G Word.  What does it mean if we can test for inherited genes?    Nirupa: It can influence how their cancer is treated.  So it means that there may be certain types of therapy that are available if they have a specific inherited cancer gene, number one.  It also can impact in terms of preventing further or other cancers related to those genes, and it may impact the type of surgery they have, and also the type of overall cancer treatment.  And then finally, if they have got an inherited cancer, then, as I mentioned before, it may impact in terms of testing and screening for their family members.  Naimah: I'm your host Naimah: Callachand.  Today, I'm delighted to be joined by Dr Nirupa Murugaesu, who's a consultant in medical oncology at Guy's and St Thomas' NHS Foundation Trust, and the principal clinician for cancer genomics and clinical studies here at Genomics England.  And Professor Sir Mark Caufield, who's a Professor of Clinical Pharmacology at Queen Mary University of London, and who previously served as chief scientist for Genomics England and was instrumental in the delivery of the 100,000 genomes project.  Today, Mark and Nirupa are going to discuss key findings from a recent paper that's just been published in Nature.  If you enjoy today's podcast, we'd really love your support.  Please like, share and rate us on wherever you listen to your podcasts.  Now, let's get into the interview.  So first of all, Mark, I wondered if you could give me a bit of background on the 100,000 genomes project?  Mark: So the 100,000 genomes project started in July 2013 following an announcement by the then prime minister, David Cameron, that the UK would be the first health system in the world to sequence 100,000 whole genomes, which is as much as you and I can read of the genetic code.  In the case of cancer, which we focused on here, in cancer we were sequencing sections of the tumour and comparing them to DNA inherited from your mum and dad, and that comparison allows us to work out what is driving the cancer, what may be affecting its potential for treatment and how we might choose treatments for patients.  So this is a real opportunity to create precision cancer care.  Naimah: And Nirupa, can you tell me what the 100,000 genomes project meant for these patients with cancer?   Nirupa: I think, firstly, we're very grateful for all of the participants in the programme, because what it's allowed us to do is to look at the data as a whole, and having all of that sequencing data alongside clinical information has been incredibly valuable, it has also developed the infrastructure for testing.  And really I think for patients with cancer, they participated in this programme as a research project, and unusually for a research project these results were returned back to treating clinicians to clinical teams, if there may have been a result that would impact or change their management.  But I think, importantly, what it enabled is the implementation of standardised cancer testing in the NHS, and really enabling that for a wider range of patients, not just those that participated in the project.  And because of patients participating, this then allowed all of the data to be stored in a single place, and this has been incredibly valuable for clinical academics and researchers.    Naimah: And can I ask what specific types of cancer that were looked at in 100,000 genomes project?   Nirupa: Again, the project was set up such that we allowed a number of different types of cancers to be sequenced and, therefore, very permissible, because we also wanted to ensure that some of the less common and rarer cancers were also sequenced and, as you would expect, more of the common cancers as well.  In addition, I think the opportunity to sequence paediatric cancers, as well as haematological malignancies, or blood cancers, was also key as part of the cancer programme.  Here, we focus on the solid cancers, but obviously there was a much wider range of cancers that were sequenced.    Naimah: And next, can we move on to talk about the findings of the study?  Nirupa: I think, firstly, by undertaking sort of a pan-cancer analysis, it really gave us an overview of the number of target and genes that were found to be actionable.  And what I mean by that is that they have a, well, clinically relevant, and we can see that in certain cancer types, such as in brain cancers, in colon cancers, lung cancers, there were within the genome sequence more than 50% of these cancers had something that was what we would call actionable.  So there was a mutation in a gene for which this would influence treatment.  And as we started to look more across the entire cohort of patients, you can really get an idea of the fact that the more that we sequence, and the more comprehensive the testing is, the number of different types of mutations that we were able to discover.     Naimah: And when you mentioned that these findings were actionable, what does that mean?  Nirupa: So what that means is that has an impact in how the patient will be managed and treated.  It may influence, firstly, the type of surgery they have, it may influence the type of cancer treatment that they receive.  And all of this, I suppose, comes back to the point that Mark mentioned, of precision oncology, so we more precisely treat patients based on their individual cancers.     Naimah: And could you give me some examples of maybe some of these genes that were found in the study that were actionable?  Nirupa: Yes, so the types of genes also matter, or the type of mutations.  So some of them were in known cancer genes, and if you have, for example, a mutation in lung cancer, in a gene called the EGFR gene, we know that there are cancer therapies that can be provided that target specifically this mutation.  So that's one example, and this is quite well characterised and understood in oncology care.  But what we were also able to do with whole genome sequencing, is identify different types of mutations that are harder to characterise routinely.  And these are often included things that we call pan-genomic markers, where we can see what the mutational landscape is of the cancer, the different patterns of mutations can be gleaned from this, and often this can then give you an idea of the underlying biology of the cancer.  But importantly, in certain types of cancers, such as high grade serious ovarian cancer, it highlights which patients may have a particular marker that means they may or may not benefit from a particular type of therapy.  So in this particular case, the class of therapy is called PARP inhibitors.  Naimah: And how did the study compare to other similar stuff studies in the genomics area?  Nirupa: That's a really good question, and I think we looked at this from other large sequencing endeavours, such as the ICGC, TCGA, so these are big studies where have been whole genomes sequencing.  Also within the Hartwig Institute in the Netherlands, they've also undertaken whole genome sequencing for cancer patients.  And what we were able to identify is that the patterns of mutations were as expected, we found, you know, a lot of similarities.  I think the difference, the main difference is not just identifying the type of mutations across the different cancers.  But the fact that we were then able to look at the longitudinal outcome, and correlate some of these genomic markers with outcomes related to both therapies, as well as survival impact of having certain mutations in terms of prognosis.    Naimah: Mark, do you have something you'd like to add there as well?  Mark: Yeah.  So one of the things that we did in the 100,000 genomes project, was to evaluate the best way of measuring the whole of your or my genetic code.  And we discovered that very early on that if you expose the tumour to a preservative, which is called formalin which keeps the tumour preserved, that actually you could get quite a number of misleading findings.  And so to address that, the distinctiveness from former programmes, such as Nirupa mentioned, like the Cancer Genome Atlas, is that all of the tumours that we studied in this paper were actually produced under fresh tissue conditions, and have not been exposed to a preservative.  And that means that what we have is a really accurate reflection of the variation within the tumours.  And the other thing about this particular resource is it's the biggest resource.  We were able to look at 13,000 people with solid tumours, but we also had blood cancers and other cancers which also feature of this paper.    And a further remarkable thing about this is early on, Nirupa and the team and I decided that we would longitudinally life-course follow the patients and by accruing data from multiple sources in the health system.  So, every attendance at the hospital, what chemotherapy was had, we've been able in this paper to recapitulate signatures that clearly show that certain mutations are harmful.  And many of the findings that we've made are absolutely, if you look at the survival of patients particularly, you can see almost identical patterns to those in clinical trials.  What this means is that by the really rich data set which is now many billions of clinical data points on these patients, we can actually look for long-term signals of benefit and harm that perhaps would not be detected by a clinical trial that might last for six months or a year.  So this is a really valuable resource, and the really great thing is we can use what's called real-world data, which is where we take routine health data, and we can recapitulate the findings from tightly controlled clinical trials.  And I think that's quite an important finding.    Naimah: That kind of brings me onto the next question, Mark, where I want to talk about the value and benefit of genomics sequencing for cancer patients.  I wondered if you could expand?  Mark: Well, what we know from one of the genomics medicine centres which were regional hubs, is that they use the information that we return, that Nirupa outlined earlier in a report, for 25% of their patients.  Which means that they concluded having evaluated that as the clinical team locally, that there was something the patients could benefit from.  Now, what we think is this makes the case for certain cancers being part of the national genomics test directory whole genome sequencing, but it's still the case that the majority of testing for cancer is now very large focused panels that are focused on specific gene features.  But in some measure, this work is also able to reassure us that those gene features are the right ones to focus on, so this work has been very useful in that respect, even where the NHS today cannot make the financial or clinical case for using whole genomes in specific cancers.  So I think the programme's made a massive difference.    The biggest thing it's done for patients, which Nirupa was very actively involved in, is it's allowed us to create a national genomics test directory.  So when we started this, cancer genomic testing was completely random and would vary from one postcode to another, one hospital to another.  And what Nirupa and the cancer team created is a national cancer genomic test directory, which now means that standard of care, that's the basis for reimbursement, and it's available across the landscape of 56 million people.  And given that one in two of us will have cancer, this is a massive advance.    Naimah: Yeah, you've really highlighted the impact of having access to such a large database.  And I just wanted to ask as well, what are the challenges associated with implementing routine whole genome sequencing into clinical care?  Nirupa: I think as with all of these things when implementing something new within a healthcare system, it requires a level of education, upskilling and also, as Mark has touched on, how we handle the tumour tissue, so that it's handled in a genomic-friendly way to enable the best results if you like, because we want to ensure that their DNA is not damaged so that we can get accurate read-outs on the results.  So there are challenges and there is also cost implications in weighing up the pros and cons.  And I think what we were able to show, and by undertaking this sort of pan-cancer analysis, is where there are those cancer type where there is a real need for whole genome sequencing, or where it can be justified, because there are a number of different types of mutations both within the tumour.  And also from a blood sample that is also taken, so this is your constitutional DNA, so this is if there is a risk of an inherited cancer.  So we are able to pull together all of this information, and obviously that's important, not just for the patient, and their management, but also for family members.  So I think really what this shows is that where you have to identify many of these different types of mutations, whole genome sequencing enables that through a single test.   Naimah: Mark, would you like to add something else there?  Mark: One thing I think which Nirupa's very much part of, is the distinctiveness of the Genomics England approach has been to involve the NHS at every stage.  Now, what that means is we estimate that at the peak of the 100,000 genomes project, 5,000 frontline NHS staff touched the project at some point in their working week.  What that does mean is that Nirupa and the cancer team could realign the cancer tissue handling pathways.  But it also meant that we were able to upskill the frontline workforce, such that at the end of the programme, when we produced a genomic test directory, they were really up for it because they did not want all the hard work they'd put in to stop.  And so what we've done is produce the national test directory within five years of starting, that wasn't a deliverable for the project, but it was nonetheless obvious to all of us working in it, including NHS England, that there needed to be service transformation, and we've managed to effect it.    Now, if you look at other settings where perhaps Nirupa and I might have a research team, we might do it some distance from the health system, it would be in the health system, but not with the health system, then it takes between nine and 16 years to get these things into clinical practice.  And that was achieved here in five years.  So there is a lesson from this, the cancer programme particularly, because the cancer programme testing was very limited when we started, but you can take an entire workforce on a journey and leave them with the legacy of an entirely transformed system for patients.  And thankfully because we got, Nirupa and I, the NHS to agree to reimburse for the testing directory being used, we have eliminated a lot of randomness that was in the system previously.  So it's quite an important advance in that respect, and it really does show in the beautiful work that Nirupa was describing exactly how you can use this information to change an entire system.  And the NHS is not the easiest system to change in the world.  Naimah: Nirupa, you mentioned the findings show that there was potentially inherited genes.  Can you tell me what does that really mean for patients, if we're able to diagnose these inherited genes sooner in life?  Nirupa: It can influence how their cancer is treated, so it means that there may be certain types of therapy that are available if they have a specific inherited cancer gene, number one.  It also, can impact in terms of preventing further or other cancers related to those genes, and it may impact the type of surgery they have, and also the type of overall cancer treatment.  And then, finally, if they have got an inherited cancer, then, as I mentioned before, it may impact in terms of testing and screening for their family members.  And that's really key as well, because this means that their cancer can be diagnosed, if they do develop a cancer, because they're being monitored, because it's much more targeted, their approach in terms of screening for a particular type of cancer, they can potentially have their cancer treated much earlier.  Or even better, before it becomes what we call an invasive cancer but at the pre-cancerous stage.  So this has huge implications, and what we're finding actually with more and more testing – and this is not just... our study was consistent with other studies that have been published – is that when you undertake more routine testing, then you are able to identify this.  It is not common amongst the population, but in those patients where it is relevant, it really can impact their care.  Naimah: Mark, do you have something to add there?  Mark: Well, I think Nirupa's just highlighted a really important point.  So to bring that into a little bit more ways of which people listening to this can relate to it, we have a family where there was a women who had no family history of breast cancer, she developed breast cancer, and in the tumour we found that she had a BRCA 2 mutation.  We also found that she'd probably acquired that or inherited it, we don't know.  That for her meant that she could enter the Olympia trial, which was running at the time, which Nirupa alluded to earlier, was a study of PARP inhibitors.  But without that genetic makeup she'd never have got into that trial, and she probably wouldn't have been tested for BRCA at that time in the NHS because she had no family history, I think that's probably right, Nirupa.    And then there was a family-wide consequence for that, because she had a brother and son, and she also had a daughter, and the daughter was under 30 at the time and underwent BRCA testing and was BRCA 2 positive.  But she has the opportunity now to enter intensive breast screening from the age of 30, and that's what's happened.  And her brother, and this is the lady who had the breast cancer, her brother and her son may be at risk of prostate cancer, so they can consider testing.  So Nirupa makes a really important point, that when people have inherited a previous disposition to cancer, that can have a family-wide impact.  And one test in one family member can open the doors to opportunity for others to understand their risk and to be screened more actively and intensively, hopefully with meaning that if they do develop cancer it will be detected very early, or maybe we can just prevent it altogether.     Naimah: Thanks, Mark, a really good example of the impact that this testing has had.  I just wanted to touch back on your point, Mark, that you'd made about real-world data.  And I wondered actually, Nirupa, if you could kind of explain to me why it's important to link real-world data to the genomic data?  Nirupa: Yeah.  So I think the work we've done here really does emphasise this, because when we refer to real-world data, we're talking about different types of healthcare data across the population.  And we had the opportunity to link the genomic data to a number of key data sets that are curated by the cancer registry, the national cancer registry database.  And this includes things like all of the population base systemic anti-cancer therapy, so we know that for each of the participants the type of cancer therapy they receive, and also, as Mark has mentioned previously, the hospital episode.  So when patients needed to be... we can see their data in terms of admissions, investigations, and so on.  And these are really valuable data points, because you get an indication of when patients may have had to then have further testing, or if there is a risk of recurrence and importantly survival data, because a lot of this has been, in terms of a lot of the cancer genes have been well characterised and tested.    But what we were able to do here at a pan-cancer level on a large cohort of patients over a period of time, is to look at if you had a particular mutation, what is the impact of that in terms of outcome for a particular cancer type, and even more broadly, on a pan-cancer level?  And actually, as this type of data accumulates, I think the real value, and if you've got a larger number, you know, what is the value for patients who've participated in this programme going forwards, is that as that data accumulates and the numbers go up, we are able to then ask more detailed questions.  What is the impact of a particular type of mutation, or a particular type of variant within a gene?  And, importantly, what happens when you get a different sequence or a combination of genes?  And how does that impact?  And this, I feel, is the way that we are going to move more towards precision oncology, because we are beginning to understand the cancer in more detail, how it is going to behave, and then try and tailor therapies accordingly.   Naimah: And Nirupa, I wondered if you could tell me as well if the findings from this study have benefited directly those patients that were involved in the 100,000 genome project?  Nirupa: It has benefited some of the patients because, as Mark has mentioned, there are findings that we weren't expecting in terms of potentially inherited cancers and, therefore, this has had implications.  The way that the project was set up from the outset, is that we were obtaining tumour samples from patients who had not received any previous cancer therapy.  And what this meant is that this was predominantly in patients, so they were treatment naïve with early stage disease that were having surgery to treat their cancers.  And as such, what we know is that fortunately most of those patients did not require further therapy, because their cancers were treated successfully with surgery.  But what it did tell us, and what it's really highlighted, is the number of important genes that were identified.  And so whilst it may not have impacted patients directly, it's enabled us to study the biology of the different types of cancers, how they behave, along with the longitudinal clinical data.    But what it is doing now, is through the national test directory through the genomic medicine service, is enabling testing for patients that unfortunately now have more advanced cancers, but where these genomic findings are more likely to impact directly in terms of therapy.  So, for instance, as we've mentioned, the ability to have whole genome sequencing for patients with high grade serious ovarian cancers, means that this will impact the type of treatment they have.  And this also was the tumour type where we found the highest number of patients with BRCA mutations, so we have a potential inherited risk of a cancer as well.  So now what we have learnt and the infrastructure that we have developed has enabled this to have a real impact, not just for patients in the project now, but wider within the NHS.  Naimah: Mark, would you like to add something else there?  Mark: I think Nirupa's encapsulated it very well.  There were a range of benefits, so I mentioned earlier that in one centre 25% we have evidence got a benefit for their treatment for their cancer in some way shape or form.  So an example to what there might be is that some people got a medicine they wouldn't have received from routine care, and that might have been licensed for the treatment of that tumour, but it wouldn't have been the first line treatment choice.  Some people got medicines that they wouldn't have got because we don't normally associate using that medicine with that cancer, but they had a signature that showed that they were very likely to benefit.  Quite high numbers got an opportunity to get into a clinical trial, which is really important because if you look, over 50% of global oncology trials now have some kind of biomarker or diagnostic, or something like this alongside, what better than to have a comprehensive inventory of the variants and the cancer, and to be able over time to use that library to understand better the treatment course of that patient.  And that's what I think a whole genome adds, rather than the single, look at a single part of the genetic makeup.   And then finally, some had lots of mutations, really high rates of mutations, and maybe they should receive specific advance therapies, like immunotherapies.  Or alternatively, they had a feature in their genetic makeup which it looks like they inherited, as Nirupa absolutely correctly said earlier, these people need to be followed-up and they need more intensive screening, because this is how you detect cancer at an earlier stage.  And the final way people benefited is we could detect genetic changes in  their DNA that meant that if they were exposed to certain medicines, they were likely to suffer harm. And there's a particular, two medicines, 5-fluorouracil capecitabine, where possibly about 5% of people will need either a reduced dose or a completely different medicine, because it will be very harmful.  And so this is about getting the right medicine to the right patient first time, and getting the right outcome for that patient downstream.    And I think, you know, Nirupa's encapsulated it perfectly, there's a whole range of benefits that the patients can accrue from this.  And I think we should probably, Nirupa, say that people were quite cynical when we started, about what it would be that you would get over and above, for example, the cancer genome map that's at the international cancer genome consortium.  And, you know, I'd had leading cancer scientists in Britain say, "Oh well, we've discovered it all, there's nothing to find here."  And I think what this paper shows is that's not entirely true.    Nirupa: I would agree with that Mark, but I would also probably add that it highlights the value of having a large data set alongside that clinical information.  And what we were also able to do,  is whilst we very much talked about what were the gene targets that had a direct impact or genomic markers that impact care now, for which there is an approved therapy.  What we've also been able to do through this analysis, is actually highlight the number of mutations that have been identified for which there is a licence therapy in another cancer type, but not in that particular cancer type.  And what that means, is that specially now, as we have more and more biomarker-driven therapies, I mean, if we look at that compared to when the project started and now, that has increased dramatically.  And what that means is then there are sort of licensed medications that actually can be used in non-licensed indications via a clinical trial, via these very, you know, these basket studies which are across cancer types and are actually based on different types of molecular markers.  And really, we're able to show this at a pan-cancer level across the 13,000 tumours through the results from whole genome sequencing.  Naimah: You've both kind of touched on this throughout and, you know, we've talked about the development of personalised medicine.  And where do you see the future of cancer treatment in the next five years?  Maybe, Nirupa, we can go to you first?  Nirupa: That's a very good question.  I think and what I hope is that with more comprehensive and equitable and standardised testing for patients, especially within the NHS, that this will enable more personalised and targeted therapy alongside, you know, systemic chemotherapy.  And as well as that, better selection of patients that are likely to benefit from the newer immunotherapies.  And also where sequencing is very exciting, is that once we begin to understand more about the individual tumours, you know, going forwards there are a number of cancer vaccine trials, and the aim of those are to have specific vaccines that are going to target an individual's tumour.  So I think in the next five years, this is I think a very exciting space, I hope so, because we need to keep doing more in the space for our patients to try and improve therapy and precision oncology for them.  Naimah: And Mark, do you have anything to add to that point?  Mark: I think Nirupa's right, that there are new therapy extractions coming on, vaccination's one way.  But I think that what will become clear is whether we can use any molecular mechanisms for early detection of cancer.  The battleground here is that we all too often detect cancer late, when it's already outside of the organ it originated in and may be spread in other parts of the body.  It's very hard to effect a cure, almost impossible in that setting.  But what if we could detect cancer earlier?  And then what if we could place a whole genome or detailed molecular characterisation alongside that?  And then, as Nirupa suggested, give someone a vaccine tailored to their tumour that would eliminate it.  The real problem is all too often we detect cancer late, so maybe some of these new molecular diagnostics, such as cell-free tumour DNA will usher in an era of early detection.    And one of the things, and particularly before we did this project but also up until the beginning of the last decade, there were very few good biomarkers of cancer that were usable in the health system.  So we have for the first time opened the vista of having early detection, if we combine early detection with detailed molecular characterisation, possibly a whole genome, possibly another test, then I think we really can usher in the era of precision medicine.  And so I think Nirupa's absolutely right, there will be new treatments, there always will be, but what we have to do is to get detection at an earlier stage.  Naimah: We'll wrap up there.  Thank you to our guests, Dr Nirupa Murugaesu and Professor Sir Mark Caulfield for joining me today.  If you'd like to hear more about this, please subscribe to the G Word on your favourite podcast app.  Thank you for listening.   

Christina Curtis is a Professor of Medicine and the Director of Artificial Intelligence and Cancer Genomics at Stanford University's Cancer Institute. Among her many achievements is the conception of the “Big Bang Theory” of tumor biology. In this episode, she tells us how not being biased by assumptions of what we know has been very helpful in her research. We talk about how her background in statistical genetics has shaped her cancer research. We also discuss how the despair of not understanding is a phase that occurs in almost any research project, and we discuss the use of generative AI in the creative scientific process. For more information on Night Science, visit https://www.biomedcentral.com/collections/night-science .

JCO PO author Dr. Jens Rueter Chief Medical Officer at The Jackson Laboratory and Medical Director of the Maine Cancer Genomics Initiative, shares insights into his JCO PO article, “The Maine Cancer Genomics Initiative: Implementing a Community Cancer Genomics Program Across an Entire Rural State.” Host Dr. Rafeh Naqash and Dr. Rueter discuss this successful initiative for patients and its implementation for access to precision oncology in rural settings.  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, Social Media Editor for JCO Precision Oncology, and Assistant Professor at the OU Stephenson Cancer Center. Today we are joined by Dr. Jens Rueter, Chief Medical Officer at The Jackson Laboratory and Medical Director at the Maine Cancer Genomics Initiative. Dr. Rueter is also the Associate Director for Regional Translational Partnerships at the Jackson Cancer Center and the lead author of the JCO Precision Oncology article titled “The Maine Cancer Genomics Initiative: Implementing a Community Cancer Genomics Program Across an Entire Rural State.”  Full disclosures for our guest will be linked in the transcript and can be found on the article's publication page.  Welcome to our podcast and thank you for joining us today, Dr. Rueter.  Dr. Jens Rueter: Well, thanks for having me. It's a pleasure to be here. Dr. Rafeh Naqash: For the sake of this podcast, we'll refer to each other using our first name if that's okay with you. Dr. Jens Rueter: That's great. Dr. Rafeh Naqash: So this article that your group published in JCO Precision Oncology has significant implications. It has broad outreach. It incorporates an aspect of Precision Oncology that is very important for not only academia but also from a community outreach perspective, which is one of the reasons why I chose this as one of our podcast highlights. So to start off, I would really be interested to know what are the current barriers to the implementation of Precision Oncology, especially in rural settings versus urban settings, that can impact cancer mortality. Dr. Jens Rueter: Yeah, that's a great question. Let me just go back a little bit in time here. When we first started with the Maine Cancer Genomics Initiative back in 2016, the problems were actually even more significant than they are today. Back in those days, I would say even access to testing was a problem in rural areas. And I think that is still the first thing to consider when thinking about barriers. Back in 2016, there were only a handful of testing companies. There were issues with reimbursement or patient out-of-pocket costs. So I think that's the first barrier. I would say that that has significantly changed in the last six years. There are more testing companies available. It appears that the out-of-pocket expenses for patients have dramatically decreased or the systems programs have improved. There are still some barriers, but I think it's a much smaller part of the population.  The second barrier to implementation, though, which remains to this day, and in fact, I would argue has actually become more complicated, is a quick and comprehensive, yet fast and deliverable interpretation of the test reports. The test reports contain a lot of information. It's often 20 to 30 pages long, multiple sections, and really understanding how to utilize that information for clinical care is a very significant issue for clinicians to this day. So that's the second barrier.  And I think then the third barrier that is still ongoing and I think, especially in rural areas, is the access to treatments through either a clinical trial or even through off-label prescriptions, that both of those require a lot of infrastructure, and that still remains a significant issue to this day. Dr. Rafeh Naqash: You touched up on some very important aspects and one being understanding of genomic reports and this has been something that I talk to fellows all the know. I finished fellowship a few years back. At that time, NGS testing was becoming more and more prevalent, even though, as you mentioned in your paper, CMS coverage for this didn't start until 2018, 2019 approximately. And from a phase one trial standpoint, which is what I do, I have probably a little more exposure to genomics and precision medicine than perhaps some of our community colleagues. But it does come up often when we get referrals from outside sites. We're trying to look through the report and see something that stands out, whether it's a varying allele frequency that's high enough to warrant testing, germline testing, or some other targets that were identified a few years back but probably were not acted upon.   So you had this very interesting approach, a three-pronged approach is what I understood, of how you tried to tackle this within your main precision oncology program. Before we go there, could you tell us what was the idea behind establishing something like this? Because I imagine bringing it to fruition is something much more complicated, but the idea is where it starts. So I imagine, like, you probably had a conversation with some of your colleagues or somebody else noticed this as a barrier in the clinic and came up with this sort of an approach. Could you touch upon that for the sake of our listeners? Dr. Jens Rueter: Yes. So back in 2016, or actually in 2015, when we started conceptualizing the Maine Cancer Genomics Initiative, the idea was to look at Maine as a state, as a very rural state. The Jackson Laboratory is an NCI-designated basic science cancer center in the state, the only NCI-designated cancer center in the state. And we feel like there is an obligation, if you will, to the state to do good for all of Maine. So it's a community approach that we felt was important. And we realized then at the time that, again, that testing genomic tumor testing, or NGS testing while available, was not being used effectively in the community. So I think those two ideas essentially made us think and believe that we should take the lead in starting such a program.  We felt that we had actually one significant advantage in that we are a non-patient care organization. So the Jackson Laboratory, even though we have an NCI-designated cancer center, we don't see patients at Jax. So we were not a competitor, if you will, for patients in the state. So we were an honest broker. We were sort of a neutral Switzerland, if you will, in Maine, and were able to convene the entire community around this concept. Even though Maine is a small state, there are a number of healthcare systems that are actually competing with each other for patients in certain areas. And when we sort of started this program, we said, look, we want to work with everyone, and it's important for us to work with everyone, and we want to include even the smaller, truly rural critical access hospitals that have small, very small oncology practices. They're just as important to us as the larger centers. So I think that was sort of the community idea behind this and this is what really started it all. And then also, again, the fact that testing was such an issue, it also happened that at the time, Jax had just started we had just started our own clinical laboratory, our own CLIA certified laboratory. So we felt like we actually had the expertise to bring a test to the community that would then engage them to utilize the technology more effectively. And that's how we proceeded with this.  Dr. Rafeh Naqash: Excellent. And I totally agree that this inclusive stakeholder approach that you had was probably one of the elements for success in this kind of an approach and led to a significant impact in the lives of patients. You mentioned three things that you targeted or three things that you identified and tried to implement as part of this Precision Oncology program. Could you tell us about those briefly, what they were, and why they were important to be included in this approach? Dr. Jens Rueter: Yes, absolutely. So the first and most important one and most impactful one was that we developed a genomic tumor board program through this initiative, which again we had a centralized yet hub-and-spoke type approach where we said, “Okay, we are going to organize these for all of the practices, for all of the studies. The patients that are enrolled in our study protocol, we will organize these and basically create an environment where we call on national experts from around the country and, in fact, around the world at this point, that call in and provide input on the different cases that the physicians had enrolled.” We left it up to the physicians to decide which cases they wanted to present because they had some patients that they enrolled where they felt like they didn't necessarily have to present the case. So there was a lot of buy-in for these genomic tumor boards because we really discussed cases that were probably the most challenging ones and the most relevant ones.  So I think the genomic tumor board program was really the most significant development and the most significant infrastructure that we built. And in fact, the work that we did in Maine actually enabled us to design a cluster randomized study that we're now running through the SWOG Cancer Research Network. I'm leading that effort with a collaborator from Columbia in New York, actually, Meghna Trivedi. And so that was really a great success, and we will hopefully in a few years know if this approach actually leads to changes in some patient outcomes. We have some indication that it does from our own work, but we will see that in a more rigorous fashion.  The second pillar, if you will, the second part of the approach was that we have a dedicated clinical education group at JAX. So JAX Laboratories, as I said, a basic science cancer center,  but we also have essentially an entire group dedicated to genomic education. And part of that group is focused on clinical genomics education. So we have a modular online program that clinicians can access, not just the physicians, but also the nurses and other people, other members of the patient care team. And in fact, in addition to the online program, we ran a few virtual educational sessions specifically for nurses, which we actually found was, nurses and clinical research coordinators were really one of the most important keys to success as well, that we get them on board and enable them to better understand the complexities of testing.  And then the third aspect, of course, was that we did provide the testing as well as part of this initiative, which we saw as kind of a method to really engage clinicians and take the pressure off the clinicians. “What if I order this testing? Are patients going to come back with significant out-of-pocket expenses?” Again, that was particularly relevant back in 2016, 2017, before the CMS coverage decision. So those three aspects were really what drove this program. Dr. Rafeh Naqash: Excellent. Now what I gather is for something like this to come to a full functional state, you need a team and you need funding. So how did you define or identify the core group of people that were most important for this initiative? And what was the funding source? Because these days, nothing gets done without the appropriate level of funding. So I wanted to ask you and see how you manage some of those logistical issues.  Dr. Jens Rueter: Great question. So this whole program was really enabled by a large philanthropic grant, or donation, if you will, from a foundation called the Harold Alfond Foundation. It's a very large philanthropic organization in New England, and they're very Maine-focused. They have historical or family ties actually to Maine, and it's very important to them to bring Maine sort of to the forefront, sort of out of the rural disadvantage, and turn that into an advantage, which is why they agreed to provide funding for this program. And I agree with you that that is a critical step. This program was always in between a traditional research program that could be funded by an NIH grant, for example. I think that initially you need some startup funding first to get this going, and then later on, as you can develop more concise research questions, I think you can also apply for NIH funding for something like this. But certainly, philanthropy goes a long way here. So that was sort of the funding source, and, I think, very important.  Now, in terms of the team, that's actually a great question. You need a few different functions represented here. So I think, first of all, having some clinical expertise is important. So I was actually specifically hired to JAX for this program. I'm a medical oncologist. I actually still have a small practice in Maine as well, but I was in full practice before I joined JAX. And I was hired specifically for this purpose so I could engage with the community and sort of understand my colleagues over the state. You need a very good and rigorous program manager, someone who can really– It's a complex project that there are many aspects you need to consider and you really need someone that kind of keeps track of all the different activities and makes sure that things are moving in the right direction.  Since we are a research organization, we decided to roll this out on a study protocol. So we hired a clinical research manager that would basically disseminate and enable the study protocol and make sure that it's actually done correctly. Even though it was a low-risk observational study, we still wanted to make sure that we collect good data on the patients and the number of publications that we've been able to produce from this initiative, I think, speak to the quality of the data. And then as the program has evolved, we have actually added on a couple of other key functions within the program, and actually one of them pertains specifically to the genomic tumor boards, which again, I think are really critical to this. So you really need one dedicated person to organize these and coordinate these. It's a lot of scheduling. There's a lot of, as you know, from your own clinical practice, clinicians have very specific schedules, and if you really want to make this successful, you really need to make sure that everyone's schedules are accounted for.  And then we also recently added another function to our program, another individual who is a genomic navigator. Actually, we call it the genomic navigator. And I think that this individual, her job is if there are additional questions, for example, after genomic tumor board, or if there are just some very specific about a test report from the entire- it could be from anyone on the team, the physicians, the nurses, the research coordinators, she can help identify some additional answers to some additional questions. She can also help clinicians if they're interested in finding a clinical trial for the patient or find some supporting evidence for off-label drugs, for example, she can provide them with additional references. We have crafted documents that basically summarize the available evidence that exists for using a specific drug in association with a genomic marker. So I think genomic navigators are also very important, and I think there are some other individuals on my team now, but I think those are the core functions that you really should consider. Dr. Rafeh Naqash: Thank you for giving us a detailed explanation of the team that I'm pretty sure has expanded over the last few years as you've tried to expand this program concurrently.  Now, going from the team to the platform, I was kind of interested to know a little more about the sequencing platform generally, as from my clinic, I do FoundationOne, or ERUS testing, or Tempus testing, etc., and I'm not very well versed with some of the platforms used. Could you tell us a little bit more about what these platforms are? How big the panels are from a DNA standpoint? And I see you did test for some RNA fusions as well. So could you tell us how that came about? Dr. Jens Rueter: So when we first started the initiative, we started with a single assay that we ran through the Jackson Laboratory, and it was at the time a fairly contemporary test. It looked at both SNVs, insertions, deletions, and so forth on the DNA level and on copy number variants as well. And it was 212, at the time, 212 cancer-related genes. It was a homegrown panel if you will. This was back in 2017, 2018, and we also had a fusion assay that looked at RNA already at the time. So we were already kind of ahead of the curve at that point because, at the time, many assays were still just looking at DNA for fusion. So we already figured that it would be better to look at the RNA level. And then we sort of grew the panel from there.  The last panel that we used specifically for this first phase of the initiative had grown to 501 genes. It was already done on a specific platform. I think it was one of the Illumina platforms at the time. So we figured the off-the-shelf solutions weren't necessarily the right approach. We also added in tumor mutational burden. We added in MSI. We did not yet have at the time LOH or HRD assessment, but we certainly offered TMB and MSI. And we had the usual sort of commodity testing for PDL-1, which we actually sent out because it wasn't necessarily what we do in-house. So that was during the program as it is described in the manuscript. I will say we continue this program. We're continuing the genomic tumor boards now. We've never stopped. We just continued after the study was over. We offer it essentially as a service now to the community, as an educational service if you will, and we now actually work with any test reports that the physicians provide. Again, I think the landscape has shifted dramatically and the testing itself doesn't seem to be as much of a barrier anymore. So we look at a lot of Tempus reports, KRAS foundation, every now and then we'll have something that's a little bit more unique, I would say.  There are obviously many other sequencing companies out there and we've actually found that this is– For our genomic tumor boards, we actually developed a template that is non-branded, that is just trying to put every test into the same table, front table, which I think has actually been very helpful for the clinicians because, again, sometimes you just can't find all of the relevant information on the front page. And we comb through every report and try to find every addendum that may have been generated and all kind of collate it in one single slide if you will, so that the clinicians have it right there and then we kind of talk it through as well. So that's essentially the evolution of the testing over the last six, seven years. Dr. Rafeh Naqash: So this more or less sounds like a very state-of-the-art, contemporary approach that was available more or less to other clinicians at that time. 200 gene panel seems pretty extensive for 2018, 2019 and, as you probably know, things have gone to whole exome at this point, but I think you seem to be doing what was most appropriate at that time.  Now, going to the results between 2017 to 2020, your precision oncology program enrolled around 1600 people. The results were simple but very impactful, is how I describe it. Could you tell us some of the highlights from the results, what you identified, both from an implementation standpoint, participation standpoint, and from an impact at an individual patient's level?  Dr. Jens Rueter: Yeah, I'm happy to do that. So, I think the most important for us, the most important metric was that we were able to, over time, engage all practices and engage all– When we finished with the initiative, at that point, every physician, every oncologist in the state had actually been enrolled in our program as a study participant, which was actually one of the unique features, by the way, of our program: we said we were going to study both the physicians and the clinicians. So we had enrolled on our study 100% of the oncologists. It took us about 18 months to get to all the practices, which I think is an important metric for anyone who wants to pursue something similar. You have to always keep in mind that, even if you come in with a fairly solid proposal and something that is clearly of benefit to patients, every institution that you work with, it's going to take a while before you can get all the agreements signed and the IRB issues settled.   So it took us about 18 months, which I think is still fairly quick actually. And we listed the enrollment as well, the enrollment curve of patients in the paper. And it certainly did take some ramp-up in the very beginning, but then we really very quickly sort of ramped up to a steady state after about a year or so. We discussed about a little bit less than, about a third of the cases actually, at our genomic tumor boards. Almost three-quarters of the physicians actually participated in the genomic tumor boards as well. We ran around 200 GTBs throughout the initiative, and we're currently looking at the clinical outcomes of these patients. It's currently under review what the clinical outcomes were, but I can already say that we are sort of, I would argue, in about the same place in terms of patients that actually went on a genome-match therapy as many other publications in that venue. And it is actually, as you can probably imagine, rather complicated to define what a genome-match therapy actually is. And that will be coming out soon, hopefully soon.  So the other findings are also quite interesting and they have been published in other publications over the last few years. So at baseline, for example, we actually asked the patients, “What are your expectations? What are you expecting from this enrollment, from the tumor testing?” And we actually identified that the patient expectations were very high, which I think is important, an important finding -  can be explained partially by precision oncology, it's a buzzword right now, and patients have certainly picked up on this and there are a lot of very high expectations in that it's going to change your outcomes. And physicians also at baseline felt quite confident, actually. There was a fairly good spread, but most of them felt quite confident that they would be able to utilize the information and actually explain it to their patients. They felt mch less confident, very on-point, in my opinion, that they would be able to put the patients on a targeted therapy or that their practice would have the infrastructure to support putting patients on therapy. So those are some of the other findings that we've identified over the last few years overall. Dr. Rafeh Naqash: Thank you. And just on a side note, I was looking at Figure 4, which shows the number of cases per physician, and one physician particularly stands out with 120+ cases. Dr. Jens Rueter: Yes. Dr. Rafeh Naqash: Did that individual physician get any kudos after doing this excellent job? Dr. Jens Rueter: Yes, actually this physician did. That's actually a really good point that you're bringing up. That's another important finding that I found quite fascinating, actually, that everyone is kind of the same at baseline. We offer the same thing to everyone. And you can see in Figure 4 in the paper that there is a significant spread in terms of how many patients each physician enrolled and also how many they presented at a genomic tumor board. And certainly that one physician is a very engaged member. We have a steering committee that we implemented very early on. That physician is also on our steering committee. And this really has contributed a lot of insights into what has worked well and maybe what hasn't worked so well. So it is a rather fascinating statistic, I agree. Dr. Rafeh Naqash: One of the things I also noticed from your summary was that the uptake of the genomic testing and being part of this initiative was more for rural areas than for urban areas. And I was trying to understand why perhaps one of the reasons could be that it does help the community physicians in that setting. Was that what you saw, or was there another side to it that perhaps may not necessarily be explained in this manuscript? Dr. Jens Rueter: Yeah. So, first of all, just to be very clear that the highest enrollment in rural areas was per capita so that's an important distinction in my opinion. So, it obviously goes that the more rural areas are more densely populated. And what's actually behind this is that the physicians that were working in those rural areas also just happen to be really engaged in the program and find a lot of value, especially, in the genomic tumor boards. So it was really very much a personable motivation. I would say, though, that the larger issue behind this, or the larger interpretation of these findings is that, especially at that time, I would argue that the– In Maine, you can always see that everything kind of moves from the south all the way to the north. It takes a little bit of time and it's the same in pretty much anything, but in medicine as well. And so, I think at that time, the NGS testing just wasn't really used all that much in the more rural areas. So I think the fact that we provided it– And again, there's also less infrastructure at these smaller hospitals or smaller practices. So running through the hoops of getting prior authorizations and still managing potential out-of-pocket expenses just aren't there and these were things back in the day for sure that were barriers. So I think us coming in and saying, “Look, all you have to do is you mention to your patients that there is this program called the Maine Cancer Genomics Initiative, and if you're interested, someone will contact you from the Jackson Lab and talk to you more about the study and see if you want to participate.” That's all they needed to do. And then everything else kind of went from there. I think that is really probably one of the reasons why we had such a significant accrual in those more rural areas. Dr. Rafeh Naqash: Amazing. And one of the things that I am very dreadful of is ‘tissue being the issue' where, despite the biopsy, despite everything you do, the pathologist comes back. Or you send the tissue to the sequencing company, they come back saying, not enough tumor cells. What were some of the things that you did or your group did to help the people involved in this process understand why tissue matters? Because that can add to further delays in treatment. So I'm very curious to know what some of those things were that you tried to help everybody understand from an educational perspective. Dr. Jens Rueter: We noticed that very much in the beginning, especially, of the program, so after about two or three months, we realized that there were a significant number of tissue failures and we realized we needed to address that. And we did that both by internal as well as external processes. So we actually looked back at our assay and said, "Look, maybe our requirements for DNA input are just too high. We need to rethink that and maybe there's a way to improve the laboratory processing so that we can actually work with less DNA." So I think that's a very important lesson.   And interestingly enough, I think this is still an issue to this day in a certain way with any of the testing laboratories, and we can get back to that in just a second. But I think the other aspect that was important here was, again, getting on the phone or on a Zoom call or whatever it was at the time, and really talk to the pathologist, talk to the clinicians, talk about, when you order a test, for example, think about beforehand as you're identifying the right specimen. Is this actually potentially enough tissue? If it's an FNA, maybe it's not enough. But if it's a good core biopsy, that's probably the better specimen. So that's certainly on the ordering physician side, but then also on the pathologist side, it was actually quite interesting. And one of the larger pathology practices in the state actually implemented something very smart, I think, as they sign out cases, and I think they do this universally on any case, as a pathologist signs out the case, he will actually indicate on the report which block should be used for sequencing. And they will actually indicate a tumor cell percentage, which I think is an excellent small step, but very impactful because it will reduce frustration on the side of the clinician, if a block is sent with not enough tissue, it will facilitate the workflow between the place where the tissue is stored, for example, and where it's cut, and it makes everything a lot simpler. And I think those are the kinds of things that you really have to think about. I think in the contemporary times now where it's become quite common for testing companies to weed out samples that have 20% or 30% neoplastic content. What's interesting there, though, is that I feel like sometimes they're almost a little bit optimistic. They're always very clear on the disclosures in the report. They will say that there was a low tumor cell purity and some of the results should be interpreted with caution. But again, I'm not sure that clinicians are actually reading the fine print. So the example has kind of flipped a little bit that nowadays you're getting a lot more information than you did six, seven years ago. But you have to understand better as to how the information was derived. Dr. Rafeh Naqash: I couldn't agree with you more as far as noting down in the pathology specimen which specimen is the most appropriate for NGS. It's a small thing to do, but I think it makes a huge impact when the research team or the nurses are actually trying to identify what specimen to send.  So now, Jens, coming to the last portion, I'd really like you to summarize in 30 seconds what are the future directions from this program? Where does it stand right now? And what are some of the things that you're trying to add on to the current format? Dr. Jens Rueter: Where we stand is we're continuing to run our genomic tumor boards in the state of Maine. And as I mentioned earlier, we're also running a national study where we're running an additional GTB per week just to really see how impactful it is on patient outcomes. In the future, we need to improve the processes. We need to streamline the processes with genomic tumor boards, involve more technology to scale it, essentially, and make it more broadly available. And lastly, what's really important is we also need to think more closely about treatment options and enabling rural areas to have more access to clinical trials. And I hope that with the current post-pandemic thinking, that we can actually enable that with technologies, with virtual visits, with virtual consent, and so forth. And then, one other point, we also need to educate patients so that they know what to ask for when they're meeting with the oncologist.  Dr. Rafeh Naqash: Thank you so much.  Now the last portion, a minute or two is going to be dedicated to you specifically. So, Jens, tell us a little bit about your career trajectory. Where did you start? You mentioned earlier that you did or currently do practice clinical oncology. And how did you get into the field of precision medicine that culminated into developing such an impactful program? Dr. Jens Rueter: We moved to Maine in 2010 after I completed my Hem/Onc Fellowship at the University of Pennsylvania, where I'd actually done quite a lot of translational and bench research. We came to practice. We moved to Bangor, and practiced here. And the Jackson Laboratory is really just on the road from where we are. We're at Mount Desert Island, right next to Acadia National Park, and I started collaborating with some of the scientists. Actually, early on, we built a tissue bank at the Northern Light Hospital here to facilitate translational research. And then when the funding became available, I received a call from the then CEO of Jackson Laboratory, and h, Ed Liu, and he said, "Jens, we're thinking about running this program and would you be interested?" And so that's how I joined JAX. And that's really when I started. I saw at the time already this gap that was widening and I saw how complicated it is to practice rural oncology. And I really saw this as a great opportunity to bring the field forward, to bring Maine forward, and to really address one of the major disparities that still exist to this day.  Prior to that, I spent quite a bit of time doing, as I said, bench research at the University of Pennsylvania. I also did my internal medicine residency at Tulane, and I always thought I was going to be a traditional physician-scientist. I actually feel great about this opportunity because I think it's addressing one of the major issues in contemporary oncology. So that's sort of how I got here. I'm originally from Germany, I went to medical school in Germany, did some research there, and then came to the United States about 20 years ago now for my postgraduate training, and I've stayed here ever since.  Dr. Rafeh Naqash: Excellent. Sounds like you're the right person for this job, with both a clinical translational bench kind of experience and having worked in different settings.  So thank you once again, Jens, for being a part of this conversation. I think at least I learned a lot. Hopefully, our listeners will find it equally interesting, intriguing, and perhaps implement some of the things that you have accomplished as part of this initiative.  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/podcast.  The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions.   Guests on this podcast express their own opinions, experiences, 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. Guest Bio: Jens Rueter, M.D. is the Chief Medical Officer of The Jackson Laboratory and Medical Director for the Maine Cancer Genomics Initiative.  Guest COIs: No Disclosures

For our fourth episode of People of Precision Health, Dr. Jai Patel at Atrium Health Levine Cancer Institute describes their pharmacogenomics program and how it folds into their activities in comprehensive cancer care and research activity. Listen now to hear insights on:Providing decentralized patient access to top-notch cancer care and researchIntegrating into cancer clinician workflows to enhance cancer patient experiencesHow distress screening and nurse navigators can improve outcomesIncreasing access for clinicians and their patients to cancer researchStandardizing cancer pharmacogenomics to support patients

Introducing Season 2 of Genomics Unravelled - the educational podcast about the future of genomics in healthcare! In this season of the podcast we will be chatting with a bunch of experts in the field of cancer genomics. Stay tuned for the first episode! --- Send in a voice message: https://podcasters.spotify.com/pod/show/genomicsunravelled/message

Jeanne Kowalski-Muegge https://dellmed.utexas.edu/directory/jeanne-kowalski-muegge and Lynda Gonzales https://cns.utexas.edu/directory/lynda-gonzales inform about the upcoming Cancer Genomics SPRINT. A first event of its kind hosted by the Livestrong Cancer Institutes.

Ep 436 - Personalized Cancer Genomics Guest: Marco Marra Unlocking the genomic code of cancer – all types of cancer – is an ongoing research endeavour that, when completed, will be a great leap forward. POG is a BC Cancer, Genome BC and Terry Fox Research Institute program designed to offer personalized oncogenomic treatment to cancer patients. The program is a clinical research initiative that started in 2012. The aim is to decode the genome – the entire DNA and RNA inside the cell – of each patient's cancer and provide that information in a way that can be a part of treatment planning and decision-making.  The POG program has and is working. Since its beginning, data sharing has been recognized as a fundamentally important component that supports and enhances local, national and international research which drives innovation and science in cancer research.  We invited Dr Marco Marra of BC Cancer to join us for a Conversation That Matters about the final frontier in defeating cancer.   Join me Feb 21 for Conversations Live - A Vancouver Sun Town Hall: Can we solve the Rental Housing Puzzle?   If you love communications and speech writing you'll gain valuable insights from Presidential SpeechWriting which I narrated. Here's the link

“Genomics is part and parcel of oncology treatment today. Even if a patient's genomics might not affect the current choice of therapy, it may do so in the future. The use of genomics and biomarkers is just an evidence-based expansion and extension of our previous care,” ONS member Kristin Daly, MSN, ANP-BC, AOCNP®, nurse practitioner at the Washington University School of Medicine in St. Louis, MO, said in a conversation with Jaime Weimer, MSN, RN, AGCNS-BC, AOCNS®, oncology clinical specialist at ONS. Daly and Weimer discussed oncology nurses' educational needs to bridge knowledge gaps in cancer genomics, identified genomics tools and resources specifically designed for clinical nursing practice, and shared strategies to implement them inn your patient care processes. Daly presented on the topic during the 2022 ONS Bridge™ virtual conference in September 2022. You can earn free NCPD contact hours after listening to this episode and completing the evaluation linked below. Music Credit: “Fireflies and Stardust” by Kevin MacLeod Licensed under Creative Commons by Attribution 3.0 Earn 0.75 contact hours of nursing continuing professional development (NCPD) by listening to the full recording and completing an evaluation at myoutcomes.ons.org by December 16, 2024. The planners and faculty for this episode have no relevant financial relationships with ineligible companies to disclose. ONS is accredited as a provider of NCPD by the American Nurses Credentialing Center's Commission on Accreditation. Learning outcome: The learner will report an increase in knowledge related to cancer genomics. Episode Notes Complete this evaluation for free NCPD. Oncology Nursing Podcast Episode 172: Address Knowledge Gaps in Evidence-Based Precision Medicine Care ONS Voice articles: Predictive and Diagnostic Biomarkers: Identifying Variants Helps Providers Tailor Cancer Surveillance Plans and Treatment Selection Educational Resources Will Help Biomarkers Have Even More Impact Understand Genomic Variants to Confidently Educate Your Patients Genomics' Red Flag Rule of Too and Two Find all ONS Voice articles about genetics and genomics. ONS Biomarker Database ONS Genomics Taxonomy ONS Genomics and Precision Oncology Learning Library ONS Congress® scholarships ONS course: Foundations in Genomics and Precision Oncology Learn more about ONS Bridge™. American Nurses Foundation survey: Pulse on the Nation's Nurses Survey Series: COVID-19 Two-Year Impact Assessment Survey Medscape nursing activities National Comprehensive Cancer Network National Human Genome Research Institute National Cancer Institute resources: Dictionary of Genetic Terms Dictionary of Cancer Terms Drug Dictionary Psychiatric Clinics of North America article: Genomics for Disease Treatment and Prevention To discuss the information in this episode with other oncology nurses, visit the ONS Communities. To provide feedback or otherwise reach ONS about the podcast, email pubONSVoice@ons.org. Highlights From Today's Episode “Precision medicine, genomics, and biomarkers aren't just buzzwords or trendy new terms. They are the tools that enable oncologists to continue to refine and improve what we have always striven for in oncology care—the continual and ongoing search to provide the most appropriate, and crucially, the most effective treatments for our patients. The use of genomics and biomarkers is just an evidence-based expansion and extension of our previous care.” Timestamp (TS) 03:39 “Our healthcare colleagues, especially our physician colleagues, are often not aware of our nursing training and curriculum. And therefore, sometimes they're unaware of both our strengths and gaps in our knowledge compared to medical training, especially when we enter a specialized area of nursing like oncology. . . . And that's a gap between our healthcare colleagues' knowledge of what our formal training has been and our formal education has been and the kind of care we're supposed to provide and understanding the science behind that care.” TS 10:52 “Genomics is part and parcel of oncology treatment today. It should be a part of a patient's evaluation and record at every point in their cancer journey. Even if a patient's genomics might not affect the current choice of therapy, it may do so in the future. So, it's important, and it's important to have it documented.” TS 18:25 “Many new oncology nurses have less time and training, fewer opportunities for in-person education, and fewer experienced nurses to serve as mentors and sources of knowledge. All of this, coupled with that increase pace of change and treatments for a variety of cancers. So, keeping up and staying current is, I know, particularly challenging in these circumstances. And I have to say, I am always so impressed by how oncology nurses come up with solutions, share information, and seek out opportunities to learn in order to take the best care of their patients.” TS 20:46 “It's important to make it a priority, to set some time aside, regularly for continuing education, however you do that. . . and to use these types of tools. And if you find websites that you find particularly helpful, bookmark them on your phone or computer so they're easily accessible and to share them with other people.” TS 33:05

The Genomics England Research Summit is an exciting one-day event that explores the latest research and technology innovations from Genomics England, partners, and complementary fields. The summit covers all things genetics from Cancer Genomics, Emerging Technologies, Rare Diseases to Policies and Initiatives.   You can view our transcript, here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genomics-England-Research-Summit.docx    "...one of the most important things is to understand you have to build a sustainable system and really invest in building those relationships."   Today on The G Word, we're very excited to share one of the brilliant sessions from the last Genomics England Research Summit, where Jillian Hastings Ward, who is the chair of our Participant Panel, spoke with Baroness Nicola Blackwood, who's the Chair of the Board at Genomics England, about the importance of patients being at the heart of the research.

This is the second episode in a special series about cancer, cancer care, accessibility and technologies related to cancer care. The first episode focused on the current state of cancer care with a speaker from Canada - David J. Stewart, MD, FRCPC, Professor of Medicine in the Division of Medical Oncology at the University of Ottawa and The Ottawa Hospital. David explained the current state of cancer care, IT in oncology and financial toxicity of a cancer diagnosis for patients.  This, second episode, dives into genomics, the role of AI, and data science in oncology. Speaker: Xose M. Fernandez, genomicist and up until recently the Chief Data Officer at Institut Curie in France, one of the leading medical, biological, and biophysical research centers in the world.   SUBSCRIBE TO THE MONTHLY NEWSLETTER: https://fodh.substack.com/ www.facesofdigitalhealth.com Leave a rating or a review: lovethepodcast.com/facesofdigitalhealth Thank you! :)

This episode features an interview with Dr. Asaf Zviran, CEO and co-founder of C2i Genomics, a biotech company focused on improving cancer detection and monitoring using genomics- and AI-based approaches. Hear about the company's proprietary cancer surveillance technology, how Dr. Zviran's founded C2i Genomics, including a personal story, and how the company is focused on truly personalizing cancer treatments.For more life science and medical device content, visit the Xtalks Vitals homepage.Follow Us on Social MediaTwitter: @Xtalks Instagram: @Xtalks Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured

Dr. Jeanne Kowalski-Muegge with the Livestrong Cancer Institutes, discusses her work in cancer genomics and its important role in discovering the best course of treatment for each person facing cancer.

EPISODE 16 Ben George, MD William F. Stapp Endowed Chair; Associate Professor of Medicine; Director, Phase 1 Clinical Trials Program; Associate Director for Cancer Genomics and Precision Medicine; Genomic Sciences and Precision Medicine Center Education and Training Doctor of Medicine - University of Kerala (1998) Internship, Internal Medicine - Medical College of Ohio - Toledo, OH (2004-2005) Residency, Internal Medicine - Gundersen Lutheran Medical Center - La Crosse, WI (2005-2007) Fellowship, Hematology/Oncology - Medical College of Wisconsin Affiliated Hospitals - Milwaukee, WI (2007-2010) Fellowship, GI Medical Oncology - University of Texas M. D. Anderson Cancer Center - Houston, TX (2010) --- Send in a voice message: https://anchor.fm/seena-magowitz-foundation/message

C. Jimmy Lin, MD, Ph.D., MHS is the Chief Scientific Officer (CSO) at Freenome, working on the early diagnosis of cancers. Previously, he was the CSO, Oncology at Natera (NASDAQ: NTRA), where he has led the development of new diagnostic technologies for cancer.Jimmy is also a 2016 Senior TED Fellow and Founder & President of Rare Genomics Institute, the world's first platform to enable any community to leverage cutting-edge biotechnology to advance understanding of any rare disease.Previously, Jimmy led the ClinOmics program in the Genetics Branch of the National Cancer Institute (NIH/NCI). Prior to this, he led the computational analysis of the first-ever exome sequencing studies of cancer at Johns Hopkins and was a research instructor at Washington University in St. Louis. He has numerous publications in Science, Nature, Cell, Nature Genetics, and Nature Biotechnology, and has been featured in Forbes, Bloomberg, Wall Street Journal, New York Times, Washington Post, BBC, TIME, and the Huffington Post.Learn more about Jimmy at DrJimmyLin.com and RareGenomics.org.

Myriad Oncology Live episodes are recordings of an open-forum webinar hosted by Dr. Thomas Slavin. The opinions and views expressed in this recording do not necessarily represent those of Myriad Genetics or its affiliates. To participate in a future recording, visit myriad-oncology.com/myriad-oncology-live for a list of dates, times, and subjects.

Justin M. Watts, MD, University of Miami, Sylvester Comprehensive Cancer Center, Miami, FL Recorded on May 14, 2021 Terminology, available tests, the impact of epigenetics, and the significance of mutations. Understanding the role of genomics in cancer care can be complex. Tune in as Dr. Justin Watts from the Sylvester Comprehensive Cancer Center in Miami, breaks down cancer genomics, discusses the implications of treatment, outlines the various tests available, including their strengths and weaknesses, the importance of educating patients on the meaning of these tests, and the future of genomic testing in hematologic malignancies.

Dr. Brian Leyland-Jones, oncology, cancer, cancer treatment, genomics, genome sequencing, immunotherapy, chemotherapy, cancer research, diagnostic therapies, liquid biopsy, I-PREDICT.

Small errors can quickly escalate to have large repercussions. When it comes to cancer, molecular changes to DNA can trigger chain reactions that cause cells to go awry and spread uncontrollably. Dr. Louis Staudt works to identify such changes, known as genetic mutations, and find ways to stop them from snowballing into a deadly disease. In this episode, Dr. Staudt recounts the story of how he differentiated subtypes of lymphomas to develop a treatment for patients as an early success of precision medicine. Dr. Staudt is a principle investigator and the director of the Center for Cancer Genomics at the National Cancer Institute. He was recently elected into the National Academy of Medicine. Learn more about his research at https://irp.nih.gov/pi/louis-staudt.

As one of Australasia's most successful Medical Technology Business Leaders, Leanne Elich is a passionate Oncology Advocate and Global Healthcare Specialist with over 25 years experience in both clinical and corporate environments with executive leadership. Leanne has led business operations teams, sales and marketing teams, technical and support teams along with product management and advisory groups. She is a motivating team leader and mentor with a strong passion for innovation, opportunity and growth.​ Leanne is also an International Keynote Speaker, Writer and Women in Leadership advisor.Leanne is a graduate of Harvard Business School and Harvard Medical School having completed Genetics, Cancer Genomics, Precision Oncology and Therapeutics. Leanne is also an International Keynote Speaker, Writer and Women in Leadership advisor.In this episode with Leanne, I explore:Unconventional career journeysAgility in technologyWhy move from oncology to consultingFemale leadership in a male dominated industryWomen in corporateand much more....You can reach out to Leanne via her socials here:https://www.linkedin.com/in/leanne-elich/https://www.instagram.com/leanneelich/ https://www.facebook.com/leanneelichconsulting https://twitter.com/LeanneElich This podcast is sponsored by Agile Management Office (www.agilemanagementoffice.com) providing high-impact delivery execution in an agile era for scaling businesses.Thank you for listening to this podcast. We welcome any feedback. www.agilemanagementoffice.com/contact Make sure you subscribe to our newsletter to receive access to special events, checklists, and blogs that are not available everywhere. www.agilemanagementoffice.com/subscribe You can also find us on most social media channels by searching 'Agile Ideas'.Follow me, your host on LinkedIn - go to Fatimah Abbouchi - www.linkedin.com/in/fatimahabbouchi/ Thank you for listening, PLEASE share or rate this if you enjoyed it. #AgileIdeas

Small errors can quickly escalate to have large repercussions. When it comes to cancer, molecular changes to DNA can trigger chain reactions that cause cells to go awry and spread uncontrollably. Dr. Louis Staudt works to identify such changes, known as genetic mutations, and find ways to stop them from snowballing into a deadly disease. In this episode, Dr. Staudt recounts the story of how he differentiated subtypes of lymphomas to develop a treatment for patients as an early success of precision medicine. Dr. Staudt is a principle investigator and the director of the Center for Cancer Genomics at the National Cancer Institute. He was recently elected into the National Academy of Medicine. Learn more about his research at https://irp.nih.gov/pi/louis-staudt.

While Carlos was studying Biology in the U.S., his father was diagnosed with Philadelphia Chromosome positive Acute Lymphocytic Leukemia (Ph+ALL) in Mexico. The same condition which he’d just learned about in school and had captured his intellectual curiosity was also now very personal. Carlos shares how genetic testing opened up options for his father’s course of treatment but also introduced myriad decisions to be made about his father’s care, the burden of which fell almost entirely upon his mother. He discusses how he thinks a genetic counselor could have helped the family through these many decisions and also shares his perspective on the importance of end of life care. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page. Do you want to support Patient Stories? You can make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast 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. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

As one of Australasia’s most successful Medical Technology Business Leaders, Leanne Elich is a passionate Oncology Advocate and Global Healthcare Specialist with over 25 years experience in both clinical and corporate environments with executive leadership.Leanne began her career immediately after graduating from the University of Sydney working at Prince of Wales and Liverpool Hospitals in Sydney. With a desire to help patients on a larger scale and make a significant impact within the healthcare industry, she transitioned into oncology and medical business working for several high profile companies specialising in the latest technology. There she was able to continue her passion of oncology and medical research together with business development, commercial investment and advocacy, expanding her network and business relationships locally and internationally. Leanne is a graduate of the Australian Institute of Company Directors (GAICD). She is an Honorary Clinical Fellow and a University guest lecturer in both Australia and New Zealand. Leanne is a graduate of Harvard Business School and Harvard Medical School having recently completed Genetics, Cancer Genomics, Precision Oncology and Therapeutics. Leanne is also an International Keynote Speaker, Writer and Women in Leadership advisor.Socials:Website - www.leaneelichconsulting.comLinkedIn - Leanne Elich Consulting Insta - leanneelichFB - Leanne Elich ConsultingTwitter - @LeanneElichMentions:Operation GameInsight Timer App

Jennifer Brown, MD, PhD, Dana-Farber Cancer Institute, Boston, MA Recorded on November 19, 2020 This podcast episode is supported by Foundation Medicine, Inc.

Cancer Genomics and Precision Medicine with guest Dr. Mark Gerstein March 15, 2020 Yale Cancer Center visit: http://www.yalecancercenter.org email: canceranswers@yale.edu call: 203-785-4095

Cancer Genomics and Precision Medicine with guest Dr. Mark Gerstein March 15, 2020 Yale Cancer Center visit: http://www.yalecancercenter.org email: canceranswers@yale.edu call: 203-785-4095

Cancer Genomics and Precision Medicine with guest Dr. Mark Gerstein March 15, 2020 Yale Cancer Center visit: http://www.yalecancercenter.org email: canceranswers@yale.edu call: 203-785-4095

In this episode of CUTalks, Shreya and Thomas talk to John Cassidy, Co-founder and CEO at Cambridge Cancer Genomics (CCG.ai), a precision AI startup transforming the ability of oncologists to provide effective, personalised cancer treatment for everyone. John holds a PhD in functional genomics from the University of Cambridge and a Masters in Pharmacology from the University of Glasgow. His research career in academia (CRUK) and industry (MedImmune) focused on understanding how tumours evolve and become resistant to treatment. John is actively involved in the biotech startup community as a Venture Partner at the Pioneer Fund, Director of SiliconBio and a lecturer at Anglia Ruskin University.

In the mid-1990s, the idea of a genome-scale study seemed impossible or even crazy to some. Dr. Lou Staudt (director of NCI’s Center for Cancer Genomics) talks about putting together one of the first cancer genomic studies for diffuse large B-cell lymphoma and building the “Lymphochip” microarray.

Welcome to Personal Genomics, a podcast from the Center for Cancer Genomics at the National Cancer Institute. In upcoming episodes, you’ll hear personal stories from researchers about what really motivates them to work in one of the most complex areas of cancer research. Listen to our trailer to get a taste of what’s to come.

Dr Bill Nelson talks with Dr Srinivasan Yegnasubramanian about his research into cancer genomics.

On this episode of 15 Minutes with the Doctor, we are joined by John Cassidy, Co-Founder and CEO of Cambridge Cancer Genomics. John shares with listeners how the company started and how they have advanced precision oncology through genomics. This personalised approach means their software can predict which cancer treatments are likely to be most effective. Key Topics: The current status of oncology Solutions created through genomics The 3 keys to innovation in genomics How Cambridge Cancer Genomics functions Biggest challenges they have overcome The current status of oncology: Oncologists typically have a short period of time to review a patient’s test results and make a recommendation for their care Oncologists make a recommendation based on their awareness of what drugs or treatments might work, this method is not as effective as it could be With 6 months between scans for most patients, as much as 2/3 of patients will receive treatments that are not effective for months before oncologists recognise the need to try something else On the lack of progress in chemotherapy: “Two-thirds of patients will go on to receive the same chemotherapy treatments that have been around for decades.” Solutions created through genomics: Genomics allows oncologists to understand what is going on with each patient on the molecular level The sequencing of blood and tissue samples can be completed in 15 minutes This software is available to clinical diagnostic labs, not direct to consumers In a US trial, using genomics saved an average of $25,000-$50,000 per patient This method is 98% accurate in predicting the correct drug for each patient The 3 keys to innovation in genomics: Reduction in cost of genomics: The Human Genome Project cost $1 billion 20 years ago Analysis now costs about $900-$1,000 per patient now Computational power: Through cloud computing, much more data can be stored securely than ever before and significant developments in artificial intelligence More drugs are being produced: This means specific drugs are available for more classes and mutations than ever before “Put those 3 things (genomic innovation, computational power, and more types of drugs being produced) together and you can do personalised scalable precision oncology for a very, very reasonable price.” How Cambridge Cancer Genomics functions: Founded by 4 co-founders with PhDs who wondered why there was such a disconnect between scientific advances and the technology to support them They built an advanced infrastructure using machine learning to support genomic advances Their software uses an individuals genomic data and machine learning to predict which drugs are most likely to effective They are currently doing alpha and beta testing in 20 centers worldwide, including observational clinical trials in the US and Singapore Biggest challenges they have overcome: Communicating their message, which is imperative to receiving funding While they have a good model, there can be challenges generally in terms of approvals and regulatory hurdles “Getting the messaging right is the key thing to get the funding, and the funding is determined by how well you are telling the story.” For more information: https://www.ccg.ai/ https://twitter.com/CCGenomics

On this episode of 15 Minutes with the Doctor, we are joined by John Cassidy, Co-Founder and CEO of Cambridge Cancer Genomics. John shares with listeners how the company started and how they have advanced precision oncology through genomics. This personalised approach means their software can predict which cancer treatments are likely to be most effective. Key Topics: The current status of oncology Solutions created through genomics The 3 keys to innovation in genomics How Cambridge Cancer Genomics functions Biggest challenges they have overcome The current status of oncology: Oncologists typically have a short period of time to review a patient’s test results and make a recommendation for their care Oncologists make a recommendation based on their awareness of what drugs or treatments might work, this method is not as effective as it could be With 6 months between scans for most patients, as much as 2/3 of patients will receive treatments that are not effective for months before oncologists recognise the need to try something else On the lack of progress in chemotherapy: “Two-thirds of patients will go on to receive the same chemotherapy treatments that have been around for decades.” Solutions created through genomics: Genomics allows oncologists to understand what is going on with each patient on the molecular level The sequencing of blood and tissue samples can be completed in 15 minutes This software is available to clinical diagnostic labs, not direct to consumers In a US trial, using genomics saved an average of $25,000-$50,000 per patient This method is 98% accurate in predicting the correct drug for each patient The 3 keys to innovation in genomics: Reduction in cost of genomics: The Human Genome Project cost $1 billion 20 years ago Analysis now costs about $900-$1,000 per patient now Computational power: Through cloud computing, much more data can be stored securely than ever before and significant developments in artificial intelligence More drugs are being produced: This means specific drugs are available for more classes and mutations than ever before “Put those 3 things (genomic innovation, computational power, and more types of drugs being produced) together and you can do personalised scalable precision oncology for a very, very reasonable price.” How Cambridge Cancer Genomics functions: Founded by 4 co-founders with PhDs who wondered why there was such a disconnect between scientific advances and the technology to support them They built an advanced infrastructure using machine learning to support genomic advances Their software uses an individuals genomic data and machine learning to predict which drugs are most likely to effective They are currently doing alpha and beta testing in 20 centers worldwide, including observational clinical trials in the US and Singapore Biggest challenges they have overcome: Communicating their message, which is imperative to receiving funding While they have a good model, there can be challenges generally in terms of approvals and regulatory hurdles “Getting the messaging right is the key thing to get the funding, and the funding is determined by how well you are telling the story.” For more information: https://www.ccg.ai/ https://twitter.com/CCGenomics

This podcast, hosted by R. Dale Hall, FSA, CERA, MAAA, CFA, SOA Managing Director of Research highlights Cancer Genomics. Please leave a review on iTunes if you've enjoyed this podcast!  If you have any questions, please contact researchinsights@soa.org

It’s the question of the moment Are we living in the age of AI? Or is it still just hype? When it comes to the latest research in immuno therapy, computational modeling is helping to answer key open questions, such as which patients might respond to which drugs. "If you were to ask me last year about deep learning, I would probably say, aaah, most of the algorithms that are published are not really answering the important questions yet. But I think this year I am converted. We are starting to use deep learning, and we are starting to see interesting results.”

One of the most exciting frontiers in science is building automated systems that use existing biomedical data to understand and ultimately treat human disease. The key difficulty in the case of cancer is that it is a highly heterogeneous disease, making it challenging to uncover which molecular alterations in tumors are important for the disease and to predict how an individual will respond to treatment. This talk presents an overview of integrative computational methods for analyzing cancer genomes that leverage a diverse range of complementary data in order to extract biomedically relevant insights.

Dr. Bryan Schneider and Dr. Milan Radovich from the Indiana University Health Precision Genomics Program are talking to Aaron about breast cancer, and some of the cutting edge treatments that are in use, and on the horizon. The Susan G. Komen Tissue Bank: komentissuebank.iu.edu/ Participate in Indiana health research at All IN for Health: www.allin4health.info/breastcancer The Healthcare Triage podcast is sponsored by Indiana University School of Medicine whose mission is to advance health in the state of Indiana and beyond by promoting innovation and excellence in education, research and patient care. IU School of Medicine is leading Indiana University's first grand challenge, the Precision Health Initiative, with bold goals to cure multiple myeloma, triple negative breast cancer and childhood sarcoma and prevent type 2 diabetes and Alzheimer’s disease.

On this episode, I speak with John Cassidy, CEO of Cambridge Cancer Genomics ( www.ccg.ai ). CCG aims to transform oncology by combining liquid biopsy with genomics and artificial intelligence to predict disease progression and improve treatment. On this episode, you’ll learn about the challenges with chemotherapy that CCG is tackling, the role that liquid biopsy and artificial intelligence play in their solution, and how their approach could forever change the way we treat cancer. This episode is brought to you by BenchSci ( www.benchsci.com ). BenchSci uses artificial intelligence to reduce the time, uncertainty, and cost of scientific experiments. Use it to find research antibodies up to 24x faster than using PubMed or Google Scholar. Just enter a protein of interest and filter by technique, organism, tissue, or 13 other options. BenchSci returns only relevant published figures and products. It’s free for academic researchers. Learn more and sign up at www.benchsci.com .

Hanlee Ji is the Senior Associate Director of the Stanford Genome Technology Center as well as an oncologist at Stanford. He’s also a clinical geneticist. In other words, he doesn’t need to take off his glasses and spin around in a phone booth to be able to do about everything. “I was in fellowship for a long time,” he says in todays interview.

Approximately 10 to 15 percent of childhood cancer cases are due to a genetic predisposition. Children’s Mercy Kansas City is searching within the genetic code to not only identify genes that may lead to cancer, but to find answers in how to better treat or cure pediatric cancer. Erin Guest, MD, Director of Cancer Genomics at Children’s Mercy, discusses the growing role of cancer genomics and how big data, new tests, and personalized treatments could change the future of pediatric cancer treatment.

Prof Biankin talks to ecancertv at NCRI 2014 about the advancement of cancer genomics via cross-institutional collaboration, with specific reference to pancreatic cancer and the difficulty in finding biomarkers.

Back in 2009 at the annual AGBT meeting for sequencing, Marco Marra presented one of the first cases of cancer treatment using whole genome sequencing. We caught up with Marco at his office at the University of British Columbia where he heads the Department of Medical Genetics. Marco also directs the Genome Sciences Center which is part of a very special organization called the BC Cancer Agency.

Only about 100 infants are diagnosed with acute lymphoblastic leukemia (ALL) in the U.S. each year. Most of these babies respond to chemotherapy treatment at first, but go on to relapse and die of the disease. Dr. Erin Guest and colleagues at Children’s Mercy are performing genomics research to uncover the reasons why leukemia in infants becomes resistant to treatment. Dr. Guest is also leading a national clinical trial for infants with ALL, through the Children’s Oncology Group.Listen in as Erin Guest, MD discusses how she is working with researchers from around the globe to design new treatment strategies that will cure more infants with leukemia.

Gad Getz, Ph.D. Broad Institute Experts from across the Broad Institute community give in-depth introductions to the basic principles of complex trait genetics, including human genetic variation, genotyping, DNA sequencing methods, statistics, data analysis, and more.Videos of these sessions are made freely available for viewing here and are geared toward a wide audience that includes research technicians, graduate students, postdoctoral fellows, and established investigators just entering the field. For more information, please visit: -Program in Medical Population Genetics (http://www.broadinstitute.org/node/224/) -Primer videos (http://www.broadinstitute.org/node/1339/) Copyright Broad Institute, 2016. All rights reserved.

Prof Bin Tean Teh - National Singapore Cancer Center, Singapore Prof Teh talks to ecancertv at WIN 2015 about the cancer genomics of urothelial cancer and fibroepithelial tumours of the breast. He discusses the discovery of the molecular fingerprint of a known carcinogen aristocholic acid (AA) found in certain herbal medicines that is linked to the development of urothelial cancer. He also talks about the discovery of recurrent mutations in exon 2 in the MED12 gene in breast fibroadenomas, a common benign breast tumour in women.

UT Austin researchers find hotspots of genetic instability in cancer using Stampede and Lonestar

More than with any other major disease, the understanding and treatment of cancer is being transformed by genomics. And these are early days. John McPherson has been involved in sequencing since the original Human Genome Project. He now directs the Genome Technologies Program at the Ontario Institute for Cancer Research. John chaired a panel on cancer genomics at the recent AGBT, or Advances in Genome Biology and Technology conference, and shares his thoughts on this year's meeting.

Laura J. van ’t Veer of University of California, San Francisco speaks to CHI on March 4, 2015. Dr. van ‘t Veer will be a keynote presenter at TCGC: The Clinical Genome Conference, June 22-24 in San Francisco, CA. Topics include the genetic makeup of breast cancer tumors and personalized medicine; transdisciplinary research collaborations related to the MammaPrint test; molecular genomic data integration, cancer patient therapy and survival prediction. For more information visit http://www.ClinicalGenomeConference.com/

Dr. Mark Gerstein of Yale University speaks to CHI on January 16, 2015. Dr. Gerstein will be a speaker during the Clinical Genomics track at Bio-IT World Conference & Expo, April 21-23, 2015 in Boston, MA. Topics include evolving data science applications to genomics, the utility of networks for biological data analysis and integration, studying non-coding mutations for cancer genomics and personal genomics research, the computational tool FunSeq and more. http://www.bio-itworldexpo.com/

ecancer reporter Peter Goodwin talks to Dr Mills at the 2013 IMPAKT conference in Brussels about the MD Anderson's current 'Moon Shot' programme looking at the genetics of triple negative breast cancer to take preventative action such as prophlyactic surgery. They also discuss new assays that look for defects in the function of BRCA1 and BRCA2 genes and the promise of PARP inhibitors in patients with abnormalities in BRCA1 and BRCA 2 genes.

Runtime 39:00 Physician-scientist Timothy A. Chan discusses cancer genomics at the forefront of cancer research and how developments have allowed researchers to discover what goes wrong in cancer faster than and more thoroughly. read more

Guest: William Foulkes, MD, PhD Host: Bruce Bloom, DDS, JD The need to manage the health of patients with cancer, and at risk for developing cancer, has given rise to the field of cancer genomics. What is this field? What are the roles within the specialty? And how do they work with patients?Host Dr. Bruce Bloom talks with Dr. William Foulkes, director of the cancer genetics program at McGill University in Montreal, Canada.