Podcasts about clinical genomics

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Play Episode Listen Later Aug 19, 2021 87:34 Transcription Available

In this episode of The Rising Tide Podcast, Dr. John Pfeifer of Washington University School of Medicine in St. Louis sits down with the Center for Genomic Interpretation to discuss, among other things, in silico proficiency testing to improve quality and accuracy in clinical genetics and genomics

Dr. Madhuri Hegde - Variant Classification in Clinical Genetics & Genomics: Opportunities & Obstacles

Play Episode Listen Later Jul 2, 2021 83:15 Transcription Available

In the third episode of The Rising Tide Podcast, Dr. Madhuri Hegde, Perkin-Elmer's Chief Scientific Officer, and co-author on the 2015 "Standards and Guidelines for the Interpretation of Sequence Variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics, and the Association for Molecular Pathology," sits down with the Center for Genomic Interpretation to discuss past and future guidelines and considerations for variant classification.

Dr. Ali Khaki -Loose Regulatory Standards Portend a New Era of Imprecision Oncology- Part 2/2

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Play Episode Listen Later Jul 2, 2021 42:10 Transcription Available

In the second episode of The Rising Tide Podcast, Dr. Ali Khaki of Stanford University sits down with the Center for Genomic Interpretation again to discuss the promises and pitfalls of precision medicine, potential consequences when FDA approvals extend beyond populations of patients and clinical trials, how to improve selection of patients for therapy, and concepts that all stakeholders should consider for these complex topics. This particular episode is geared toward anyone seeking detailed, in-depth perspectives about oncology precision therapies.

Dr. Ali Khaki -Loose Regulatory Standards Portend a New Era of Imprecision Oncology- Part 1/2

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Play Episode Listen Later Jul 2, 2021 41:36 Transcription Available

In this first episode of The Rising Tide Podcast, Dr. Ali Khaki of Stanford University sits down with the Center for Genomic Interpretation to discuss FDA approvals in precision medicine and cancer that miss the mark, what the consequences are for such approvals, and paths forward that could drive improvements in quality and accuracy of precision medicine and, ultimately, patient care.

The ethics of whole-genome sequencing: from race and religion to science fiction

Future Science Group

Play Episode Listen Later Jun 25, 2021 27:17

Welcome to part 2 of this two-part episode on whole-genome sequencing (WGS) in rare disease research and treatment. In part one we discussed the impacts the technology has had on both improving the clinical diagnosis and management of rare diseases and on drug development and basic research studies. This episode goes beyond the technology's capabilities and into the debates surrounding how, when and why they should be used. What needs to change for the technique to be applied equitably? And how does reality stack up against science fiction in terms of people's perceptions of ubiquitous WGS. To do this I speak with David Dimmock, Senior Medical Director of the Rady Children's Institute for Genomic Medicine (CA, USA); Christine Stanley, Chief Director of Clinical Genomics, Variantyx (MA, USA); and Take Ogawa, Vice President of Sales & Marketing at Psomagen (MD, USA). Each of these speakers provides their opinions on the impacts of race, religion and way of life on the application of WGSand how much data is too much data. Contents: Introductions: 00:00-02:20 Gauging public perceptions of routine WGS 02:20-05:40 The role of industry in improving WGS accessibility and capabilities: 05:40-07:35 The appropriate use of pre-symptomatic and predictive risk findings: 08:00-11:15 Debating the discovery of untreatable diseases: 11:15-12:45 The impact of data biases in gene sequencing and the lack of gene references for different populations: 12:45-14:45 The impact of religion and lifestyle on ethical considerations in the use of WGS data: 14:45-16:00 Dealing with unintended findings or results that impact relatives: 16:00-16:45 The value of WGS in pharmacogenomic variant findings and challenging the ACMG59 list: 16:45-19:20 Striking the balance between fully utilizing WGS for all potential findings and ensuring maximum participation for all groups: 19:20-22:45 Filtering data to avoid exclusion: 22:45-24:10 Who owns WGS data? 24:10-25:15 Consent conversations: 25:15-26:30 Final comments: 26:30-27:15

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The ethics of whole-genome sequencing: from race and religion to science fiction

Talking Techniques

Play Episode Listen Later Jun 25, 2021 27:17

Welcome to part two of this two-part episode on whole-genome sequencing (WGS) in rare disease research and treatment. In part one we discussed the impacts the technology has had on both improving the clinical diagnosis and management of rare diseases and on drug development and basic research studies.This episode goes beyond the technology's capabilities and into the debates surrounding how, when and why they should be used. What needs to change for the technique to be applied equitably? And how does reality stack up against science fiction in terms of people's perceptions of ubiquitous WGS?To do this I speak with David Dimmock, Senior Medical Director of the Rady Children's Institute for Genomic Medicine (CA, USA); Christine Stanley, Chief Director of Clinical Genomics, Variantyx (MA, USA); and Take Ogawa, Vice President of Sales & Marketing at Psomagen (MD, USA). Each of these speakers provides their opinions on the impacts of race, religion and way of life on the application of WGS and how much is too much data.Contents:Introductions: 00:00-02:20Gauging public perceptions of routine WGS 02:20-05:40The role of industry in improving WGS accessibility and capabilities: 05:40-07:35The appropriate use of pre-symptomatic and predictive risk findings: 08:00-11:15Debating the discovery of untreatable diseases: 11:15-12:45The impact of data biases in gene sequencing and the lack of gene references for different populations: 12:45-14:45The impact of religion and lifestyle on ethical considerations in the use of WGS data: 14:45-16:00Dealing with unintended findings or results that impact relatives: 16:00-16:45The value of WGS in pharmacogenomic variant findings and challenging the ACMG59 list: 16:45-19:20Striking the balance between fully utilizing WGS for all potential findings and ensuring maximum participation for all groups: 19:20-22:45Filtering data to avoid exclusion: 22:45-24:10Who owns WGS data? 24:10-25:15Consent conversations: 25:15-26:30Final comments: 26:30-27:15 See acast.com/privacy for privacy and opt-out information.

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Whole-genome-sequencing: navigating the "Diagnostic Odyssey" in rare disease research

Talking Techniques

Play Episode Listen Later May 19, 2021 39:28

Rare diseases present a series of challenges on numerous fronts. From simply deciphering what a patient is affected by to considering how best to manage a rare condition with limited pre-existing medications available for a rare disease, each new development or breakthrough brings clinicians to a new question. While these conditions are, in isolation, rare; in total rare diseases impact 25-30million people in the USA alone. Supported by Psomagen and featuring four fascinating guests from across the spectrum of topics and focuses in the rare disease space, this episode explores the updates to whole-genome sequencing technology that have improved the "Diagnostic Oddysey" experienced by some patients, enabled more accurate drug development and provides insight into the diagnosis and characterization of undefined rare diseases, before exploring the clinical impact whole-genome sequencing can have on clinical outcomes.This episode features insight from four field-leading experts in rare disease research, whole-genome sequencing technologies and clinical practice for patients with rare diseases, including: Alan Beggs: Director of The Manton Center for Orphan Disease Research, Sir Edwin and Lady Manton Professor of Pediatrics at Harvard medical school Christine Stanley: Chief Director of Clinical Genomics at VariantyxDavid Dimmock: Senior Medical Director of Rady Children's Institute for Genomic MedicineTake Ogawa: Vice President, Sales & Marketing at Psomagen ContentsIntroduction: 00:00-02:30Defining the Diagnostic Oddysey: 02:30-06:20Rare disease discovery: 06:20-09:20Techniques involved in Rare disease discovery: 09:20-12:05Whole-genome sequencing updates impacting clinical diagnosis: 12:05-18:30Currently required improvements in techniques for rare disease research and management: 18:30-24:10Explaining long-read and short-read sequencing: 24:10-26:00Developing therapeutics for rare diseases: 26:00-30:00Whole-genome sequencing in animal model validation: 30:00-31:20Improving access to whole-genome available to researchers and clinicians: 31:20-33:40Whole-genome sequencing improving management and outcomes for rare diseases: 33:40-38:27 See acast.com/privacy for privacy and opt-out information.

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Whole-genome-sequencing: navigating the "Diagnostic Odyssey" in rare disease research

Future Science Group

Play Episode Listen Later May 19, 2021 39:28

Rare diseases present a series of challenges on numerous fronts. From simply deciphering what a patient is affected by to considering how best to manage a rare condition with limited pre-existing medications available for a rare disease, each new development or breakthrough brings clinicians to a new question. While these conditions are, in isolation, rare; in total rare diseases impact 25-30million people in the USA alone. Supported by Psomagen and featuring four fascinating guests from across the spectrum of topics and focuses in the rare disease space, this episode explores the updates to whole-genome sequencing technology that have improved the "Diagnostic Oddysey" experienced by some patients, enabled more accurate drug development and provides insight into the diagnosis and characterization of undefined rare diseases, before exploring the clinical impact whole-genome sequencing can have on clinical outcomes. This episode features insight from four field-leading experts in rare disease research, whole-genome sequencing technologies and clinical practice for patients with rare diseases, including: Alan Beggs: Director of The Manton Center for Orphan Disease Research, Sir Edwin and Lady Manton Professor of Pediatrics at Harvard medical school Christine Stanley: Chief Director of Clinical Genomics at VariantyxDavid Dimmock: Senior Medical Director of Rady Children's Institute for Genomic MedicineTake Ogawa: Vice President, Sales & Marketing at Psomagen Contents Introduction: 00:00-02:30Defining the Diagnostic Oddysey: 02:30-06:20Rare disease discovery: 06:20-09:20Techniques involved in Rare disease discovery: 09:20-12:05Whole-genome sequencing updates impacting clinical diagnosis: 12:05-18:30Currently required improvements in techniques for rare disease research and management: 18:30-24:10Explaining long-read and short-read sequencing: 24:10-26:00Developing therapeutics for rare diseases: 26:00-30:00Whole-genome sequencing in animal model validation: 30:00-31:20Improving access to whole-genome available to researchers and clinicians: 31:20-33:40Whole-genome sequencing improving management and outcomes for rare diseases: 33:40-38:27

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23. The Atwal Clinic - Geneticist Dr. Atwal

Blu Dream Health Collective

Play Episode Listen Later Feb 19, 2021 50:44

Dr. Atwal is expertly trained in all areas of genetics, including cancer genetics, cardiac genetics, neurogenetics, pediatric genetics, predictive/preventive genetics, prenatal genetics, and adult genetics. Dr. Atwal is a board-certified clinical and medical biochemical geneticist. He formerly served as Mayo Clinic's Medical Director for the Center for Individualized Medicine and Clinical Lead for the Department of Clinical Genomics at the Jacksonville campus. He is a fellow of both The American College of Medical Genetics & Genomics and The Royal Colleges of Physicians of the United Kingdom. For more information and episode notes, visit http://www.bludreamhealth.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app

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Optimizing Male Hormones for Fat Loss, Energy, and Libido with Dr. Elliott Dinetz

Radiance Revealed Podcast

Play Episode Listen Later Nov 18, 2020 43:57

Dr. Jennifer Haley is joined by Dr. Elliot Dinetz in this week's episode to discuss low testosterone and how to optimize male hormones, and he brings his unique and cutting edge perspective to the show. Listeners will learn what symptoms of hormonal imbalances with males to be aware of, causes of males having low testosterone, and what nutritional needs there are for optimal health. Dr. Dinetz is a board certified Family Physician & specialist in Functional Medicine. After completing his training at Mercer University Medical Center in Family and Integrative Medicine and then completing a fellowship in Metabolic and Functional Medicine, Dr. Dinetz was invited to train further in Clinical Genomics. This allows him to provide the most personalized care available by formulating specific plans based on a patient's genetic profile. As a functional medicine practitioner, he takes a deeper look and focuses on the whole body to personalize health and wellness for each unique individual. He goes beyond treating symptoms but instead targets the root cause of issues to both treat and prevent health conditions using a natural approach. If you're a male asking yourself “Why am I so tired all the time?” or “Do I have low testosterone?” then tune into this week's episode to get answers and get knowledge on how to optimize your health. Work with Dr. Dinetz: https://www.elliotdinetz.com/ Find him on IG: https://instagram.com/drdinetz Resources: IG: https://instagram.com/drjenhaley Website: www.drjenhaley.com Consultation: https://dermoncall.net/jhaley BiOptimizers formulates amazing magnesium and gut supplements. Their magnesium supplement is the most potent, complete, and full-spectrum magnesium on the market. It is the perfect addition to a healthy lifestyle to achieve clear skin, enhanced mood, energy, better sleep, and faster recovery. You get 10% off when you go to bioptimizers.com and enter DRJENHALEY10 at checkout

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Stephanie Crowley, PhD - Clinical Genomics Scientist

Career Explorations in Genomic Medicine Research

Play Episode Listen Later Sep 10, 2020 41:36

Clinical Care

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OsteoBites S1 Ep14 Katie Janeway, MD, NEW Osteosarcoma Clinical Trial

MIB Agents OsteoBites

Play Episode Listen Later Jul 10, 2020 48:21

NEW CLINICAL TRIAL FOR #OSTEOSARCOMA ANNOUNCED! MIB Agents Osteosarcoma Webinar Series: Katherine A. Janeway, MD, and Suzanne Forrest, MD discuss the opening of a new clinical trial for osteosarcoma, funded by Osteosarcoma Institute. Updates on the OSProject as well! TRIAL LINK ... Guest Information: *Katherine A. Janeway, MD, MMSc‬ ‪Associate Professor of Pediatrics, HMX - Harvard Medical School ‪ Senior Physician, Dana-Farber Cancer Institute/Boston Children's Hospitals Cancer & Blood Disorders Center‬ ‪ Director, Clinical Genomics, Dana-Farber‬ Cancer Institute *Suzanne Forrest, MD Instructor of Pediatrics, Harvard Medical School Pediatric Hematology/Oncology, Dana-Farber Cancer Institute, Boston Children's Cancer & Blood Disorders ... All OsteoWarrior Panelists are; *Maeve Smart is an MIB Agents Jr. Board Member and and OsteoWarrior *Alexis Johnson is an MIB Agents Jr. Board Member and MIB Mission Commander *Amanda Braunfeld Levine is a Patient Advocate and Founder/Moderator of Osteosarcoma Support FaceBook Page ... Hosted by Ann Graham, MIB Agents Founder & President. … MIB Agents is a leading pediatric #osteosarcoma nonprofit dedicated to Making It Better for our community of patients, caregivers, doctors, and researchers with the goal of less toxic, more effective treatments and a cure for this aggressive bone cancer. More information at www.mibagents.org ... Register for next week when Ellen Shobet, RN Nurse Navigator at Baylor College of Medicine and Texas Children's Hospital is here with David Poplack, MD, Director of Global Hematology-Oncology Pediatric Excellence (HOPE) and Associate Director of Texas Children's Cancer and Hematology Centers to talk about Passport for Care. Register: https://bit.ly/MIBobites Less --- Support this podcast: https://anchor.fm/mibagents/support

COVID-19 Vaccines and Therapeutics, Clinical Genomics in Critically Ill Children, and more

JAMA Editors' Summary: On research in medicine, science, & clinical practice. For physicians, researchers, & clinicians.

Play Episode Listen Later Jun 23, 2020 10:02

Editor's Summary by Howard Bauchner, MD, Editor in Chief of JAMA, the Journal of the American Medical Association, for the June 23/30, 2020 issue

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EP 311 | Dr. Susan Wilder on How to Help Protect From the Coronavirus

DocPreneur Leadership Podcast

Play Episode Listen Later Mar 5, 2020 40:25

By Michael Tetreault, Editor, Concierge Medicine Today and Host, The DocPreneur Leadership Podcast As we continue to unpack and educate Physicians and Patients about infectious diseases, the flu, COVID-19 or Coronavirus, we sit down today with Dr. Susan Wilder. Her medical education, military training, and unique areas of expertise have prepared her, her team and Patients to address such national concerns. Dr. Wilder is Board-Certified in Family Medicine and a Certified Functional Medicine Practitioner. She earned a Certificate of Added Qualifications in Sports Medicine, has advanced training in Clinical Genomics, completed a fellowship in Faculty Development at the University of North Carolina at Chapel Hill, and attended the Air Force's School of Aerospace Medicine. She studied meditation with Deepak Chopra, brain health with Dr. Daniel Amen, human motivation with Tony Robbins, and Functional Medicine with Dr. Mark Hyman. Dr. Wilder has served on the faculty of the Uniformed Services University of the Health Sciences, The George Washington University School of Medicine and Health Sciences, and the Mayo Clinic College of Medicine. She currently teaches medical students from The University of Arizona and Southwest College of Naturopathic Medicine & Health Sciences. "I founded LifeScape to provide a completely different kind of healthcare; one that focused on the totality of you," says Dr. Susan Wilder. "Our award-winning practice puts patients first. We go well beyond simply throwing prescriptions at a problem, and look at the root causes of illness." Dr. Wilder practices full-spectrum Family Medicine including well-woman, men's health, pediatric and adolescent care, and geriatrics. She has written several textbook chapters and journal articles with specific emphasis on “patient centered” medicine and addressing the underlying causes of illness while reducing reliance on medications. Dr. Wilder has special expertise in evidence-based nutritional and lifestyle interventions, hormone management, and advanced nutritional and genetic testing. She emphasizes collaborative, transformative care striving to make chronic disease obsolete. RESOURCES MENTIONED www.lifescapepremier.com https://www.facebook.com/LifeScapePremier https://www.instagram.com/lifescapepremieraz/ www.conciergemedicinetoday.com www.docpreneurpress.com www.lysol.com/healthy-home/understanding-coronavirus/ Concierge Medicine Today is not responsible for the content of these Physicians insight. This is not considered to be medical advice. Disclaimer If you have any questions about these physicians, their services, etc., please contact the doctor or doctor's office directly. Concierge Medicine Today, LLC., our sister publication(s) and/or Podcast(s) use our best efforts to gather the information that is available and use it effectively to help educate Physicians about new and exciting innovations in healthcare. The editors, publishers, distributors, hosts, Concierge Medicine Today, LLC., its related, affiliated or subsidiary companies or employees/representatives, stress that since the details of an individual's personal health situation are fact-dependent, in no event is this information considered medical advice. None of our representatives or affiliated companies shall be liable for any direct, indirect, special, incidental or consequential damages or financial costs arising out of the use of any of the physicians thoughts or advice on this article, journal or podcast(s). Concierge Medicine Today, LLC., our representatives, agents or employees accept no responsibility or liability for the claims made by the Physician(s) interviewed or our guests. Once again, If you have any questions about these topics, evidence cited, physicians, their services, etc., please contact the doctor or doctor's office directly. The views expressed herein are those of the Physician; they do not necessarily reflect the views of our organization or Representatives.

Episode 6- Gut Microbiome Part 2: All about TMAO with W.H. Wilson Tang, MD

Nutrition Rounds Podcast

Play Episode Listen Later Sep 10, 2019 50:43

In this episode of Nutrition Rounds – we do our second deep dive into the gut microbiome. On this episode - we discuss how certain metabolites produced in the gut are associated with cardiovascular disease. Your gut microbiome is made up of trillions of microorganisms, including at least 1000 different species of known bacteria with more than 3 MILLION genes! (150 x more than humans!) Could what we eat change the diversity and species of bacteria that reside in our gut? Could this change our risk for cardiovascular disease? And what IS TMAO? It is one piece of a massive, complicated puzzle. We have barely scratched the surface as to what is yet to come in gut microbiome research, but the work from Dr. Tang, and Dr. Hazen, and their colleagues at Cleveland Clinic is a fascinating beginning. About Dr. Tang W. H. Wilson Tang, MD, is Director of Cleveland Clinic’s Center for Clinical Genomics; Research Director, and staff cardiologist in the Section of Heart Failure and Cardiac Transplantation Medicine in the Sydell and Arnold Miller Family Heart & Vascular Institute at the Cleveland Clinic. Dr. Tang is Professor of Medicine at the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University.

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Cardiomyopathy Update - Genetics and Medical Care

Cardiac Consult: A Cleveland Clinic Podcast for Healthcare Professionals

Play Episode Listen Later Aug 29, 2019 13:21

Dr. Steven Nissen, Chief Academic Officer, Chief Academic Officer, Sydell and Arnold Miller Family Heart & Vascular Institute talks about cardiomyopathy with Wilson Tang, MD, Director of Cleveland Clinic’s Center for Clinical Genomics; Research Director, and staff cardiologist in the Section of Heart Failure and Cardiac Transplantation Medicine – from the basics to the newest innovations. Types of cardiomyopathy, how genetic testing can play a role in clinical management of the patient with cardiomyopathy, and the latest drugs and new research are discussed.

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Cardiomyopathy: latest news on genetics and treatments

Love Your Heart: A Cleveland Clinic Podcast

Play Episode Listen Later Jul 30, 2019 7:10

Dr. Steven Nissen, Chief Academic Officer, Sydell and Arnold Miller Family Heart & Vascular Institute talks with Wilson Tang, MD, Director of Cleveland Clinic’s Center for Clinical Genomics; Research Director, and staff cardiologist in the Section of Heart Failure and Cardiac Transplantation Medicine – about cardiomyopathy. How to care for yourself if you have dilated cardiomyopathy; What is your outlook? What should you know about genetics? What should you know if you have other types of cardiomyopathy such as hypertrophic cardiomyopathy or amyloidosis?

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The Mayo Clinic Guide to a Healthy Pregnancy

Feisty Side of Fifty

Play Episode Listen Later Nov 26, 2018 11:00

We boomers know that life doesn’t get any better than enjoying the deeply moving, life affirming experience of holding a brand new, healthy grandchild in our arms. This awe-inspiring experience is the reason this show is going to be especially meaningful. Our guest, Dr. Myra Wick, M.D., Ph.D., is the Medical Editor at the Mayo Clinic Medical as well as a specialist in the Department of Obstetrics and Gynecology and the Department of Clinical Genomics at the Mayo Clinic in Rochester, Minnesota. She joins us to share all about an amazing resource, called the Mayo Clinic Guide to a Healthy Pregnancy. Join this highly regarded physician as she shares ways your pregnant daughters and granddaughters can make better nutrition and lifestyle choices that will lead to giant health benefits to your unborn grandchildren. The guide is also filled with the latest, cutting edge information on prenatal care, genetic testing and new natural pain relief options during delivery. So, if you care about the health of your pregnant loved ones and hope to spend many happy years with your healthy grandchildren, you won’t want to miss this one!

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Putting our genome to work

Pod Academy

Play Episode Listen Later Jun 21, 2018 36:38

This podcast is drawn from a Progress Educational Trust (PET) event called Putting Your Genome to Work: For the NHS, for Industry, for the UK Post-Brexit Chair: Sarah Norcross, Director of PET Speakers: Dr Eliot Forster, Chair of MedCity Dr Edward HockingsFounding Director of Ethics and Genetics Dr Athena Matakidou, Head of Clinical Genomics at AstraZeneca's Centre for Genomics Research, and Consultant in Medical Oncology at Cambridge University Hospitals Dr Jayne Spink, Chief Executive of Genetic Alliance UK We are at the beginning of a biomedical revolution built on the promise of genomics. The British government has put this at the heart of its post-Brexit industrial strategy. So what is the potential of genomics, what is the journey we are setting out on, and what are the pitfalls? The British Government's Industrial Strategy White Paper Building a Britain Fit for the Future sets out an ambition for the UK to 'be the world's most innovative economy' and play a leading role in a 'fourth industrial revolution... characterised by a fusion of technologies that is blurring the lines between the physical, digital and biological worlds'. The White Paper argues that 'the government, the NHS and charities can all contribute to make the UK an attractive location for businesses to invest and for patients to benefit'. According to the first in a series of Sector Deals published in the wake of the White Paper, the Life Sciences Sector Deal, 'a new genomics industry is beginning to emerge... with UK companies like AstraZeneca, Cambridge Epigenetix, Genomics plc and Congenica working with Genomics England'. The Sector Deal discusses investments from and agreements with a variety of companies, involving the whole genomes of around 70,000 participants in the 100,000 Genomes Project and around half a million participants in UK Biobank. GSK and others have committed to sequencing the whole genomes of the latter, while a separate consortium coordinated by Regeneron Pharmaceuticals will sequence the exomes (partial genomes) of these same participants in the shorter term. Health Secretary Jeremy Hunt says the Sector Deal 'proves that life science organisations of all sizes will continue to grow and thrive in the coming years, which means NHS patients will continue to be at the front of the queue for new treatments'. However, there remains a degree of public unease about the involvement of commercial interests in health. This unease may be intensified at a time when how best to fund and manage the NHS, how best to approach Brexitand who can be trusted with health-related data are all matters of ongoing concern. Issues discussed at the event included: What are the benefits of genomics for patients? How can we ensure that the NHS, and its patients, derive reciprocal benefit from scientific and medical advances that involve people's genomic data? How can we address the view that there is, or should be, a clear partition between public and private involvement in health, when the development of medicines and diagnostics has always been led by the private sector (and now the Industrial Strategy involves closer collaboration)? What can we learn from the world of direct-to-consumer genetic testing, where consumers often consent to their data being used in research (to the commercial benefit of the testing company)? Finally, can we learn anything from proposals by a US company to treat members of the public neither as patients nor as consumers but rather as 'data owners', who will use blockchain technology to make their genomic data accessible (or inaccessible) to whomever they wish? Photo: PLOS One Pyhlogeny Comparative genomic DNA hybridization and in silico comparison of gene content within mobile elements of bovine and human SA isolates

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Bio-IT World Expo 2018 | Gene Discovery and Clinical Impact

Getting Personal: Omics of the Heart

Play Episode Listen Later Apr 24, 2018 5:04

Dr. Catherine Brownstein of Boston Children’s Hospital and Harvard Medical School speaks to Cambridge Healthtech Institute on April 10, 2018. She will be a presenter during the Clinical Genomics track at Bio-IT World Conference & Expo, May 15-17, 2018 in Boston, Massachusetts. Topics Questions Include: 1) Let’s touch upon your gene discovery work. What determines the disease genes and conditions you study, with an eye on clinical impact? 2) How does research on rare and orphan disease enhance our understanding of medicine overall? 3) While you zoom in on rare diseases for the sake of broader knowledge, you also look broadly or globally to answer local questions, liaising between academia and industry, and partnering with clinicians with a shared goal of enhancing patient care. What do both the research and clinical sides need to contribute to the process, and what challenges still need to be ironed out? For more information, please visit http://www.bio-itworldexpo.com/clinical-omics/

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Anwar Chahal & Calum MacRae discuss Clinical Genomics training

Play Episode Listen Later Sep 27, 2017 30:43

Jane Ferguson: Hi everyone. Welcome to episode seven of Getting Personal, -Omics of the Heart. I'm Jane Ferguson, an assistant professor of medicine at Vanderbilt University Medical Center and the chair of the Publications and Professional Education Committee of the Functional Genomics and Translational Biology Council of the American Heart Association. This month I'm particularly excited to announce a new venture. We have teamed up with the journal, Circulation: Cardiovascular Genetics to bring you this and future podcasts. CircGen publishes a lot of the most compelling research in cardiovascular genetics and genomics and precision medicine in cardiometabolic disease. We've already featured a lot of the research in previous episodes of the podcast. With this new collaboration, you can look forward to even more in-depth features of the newest research published in Circulation: Cardiovascular Genetics. This month, Anwar Chahal, a cardiology fellow at the Mayo Clinic, talked to Calum MacRae, the Chief of Cardiology at the Brigham Women's Hospital in Boston. The interview covered a variety of topics and we couldn't fit everything into this half-hour podcast. What you will hear in this episode is a discussion related to a recent publication by Dr. MacRae and colleague Aaron Aday in Circulation published in July 2017 entitled Genomic Medicine in Cardiovascular Fellowship Training. Dr. MacRae expands on the topic, How to Train Clinicians to Deal with Advances in Genomic Medicine and What we Can Do to Improve Implementation of Knowledge from Genetics and Genomics to Helping Patients with Cardiovascular Diseases. If you'd like to hear more from the interview, including discussion of Dr. MacRae's bold One Brave Idea project, and to hear more pearls of wisdom and career advice from Dr. MacRae, you can download the full interview in the special hour-long podcast. First, I do want to highlight one recent paper from the Functional Genomics and Translational Biology Council which was published in the June 2017 issue of Circulation: Cardiovascular Genetics. This clinical genomics paper was published by Laura Zahavich, Sarah Bowdin and Seema Mital, all from the Hospital for Sick Children in Toronto. The paper is entitled Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease and describes the case of an infant with congenital heart disease where a pathogenic mutation in the notch one gene was identified through whole exome sequencing. The paper highlights the utility of whole exome sequencing when candidate gene panels are negative, allowing for increased understanding of causality and the ability to make risk predictions for future offspring. At the same time, this approach reinforces the importance of well-trained clinical personnel including genetic counseling, to appropriately interpret and disseminate findings from whole exome sequencing. A little aside, in case you are not aware of this, Circulation: Cardiovascular Genetics has a really nice feature on their website where you can apply filters to see specific types of publications. From the toolbar along the top of the homepage, you can go to Browse Features and then you can select Options from the dropdown menu, so if you click on Clinical Genomics Cases, for example, you will see all of the genomic case reports, which may be of particular interest to this audience. Dr Anwar Chahal: My name's Dr. Anwar Chahal. I am a cardiology fellow in training from London, UK, and I am doing my research fellowship here at the Mayo Clinic. I'm very honored and delighted to have our guest, Dr. Calum MacRae, so you are the Chief of Cardiovascular Medicine. You are a MD PhD by training and you are associate professor at Harvard Medical School and your expertise amongst many other things, internal medicine, cardiovascular diseases, but in particular inherited cardiovascular conditions. Is there anything else that you would add to that? Dr Calum MacRae: I'm a big fan of generalism and I'm quite interested in cardiovascular involvement in systemic disease as well, largely as a means of keeping myself abreast with the biological mechanisms in every system that seems to be relevant to cardiovascular disease. Dr Anwar Chahal: I think training across the world has increasingly recognized the importance of genetics and genomics, but I just want to share one little anecdote. My wife's a primary care physician and I was visiting the GP practice where she works and she'd mentioned that I had an interest in genetics and genomics and one of the partners came out with one of these reports that a patient had sent their sample to a private company, got this analyzed, brought it into the clinic appointment, and asked for an interpretation. The GP partner said to me, "I've absolutely no idea what any of these numbers, values, et cetera mean. I actually am looking forward to my retirement because I really don't want to have to cover all of this. Can you help me with it?" I sort of remember hearing Dr. [inaudible 00:05:48] talk here at Mayo Clinic, who's really pushed forward pharmacogenomics and he's been arguing for quite some time, as I've heard you say as well, that genomics and genetics is just going to be a part of the medical record in the same way that hemoglobin or a chest x-ray is and people better catch on because it's here, it's available, commercially people can send their samples directly without their doctor's involvement and then it's trying to make sense of all of that. I think as a community research and clinical we have to take this very seriously and I'd be grateful for your insights on that and then if you could then tell us what would be the best way for the up and coming generation and for programs to incorporate that into their training. Dr Calum MacRae: I think you're right, there is a general tendency in the public domain to test a variety of different genotypes, and in many instances I think the key elements are how do we as a profession conceive of these tests? I think one of the things that we forget perhaps at our peril is that many of these things are problems that we've encountered before. There's a natural cycle of different tests in medicine where they start off in the academic medical centers, they propagate into the periphery, and then eventually they're assimilated as part of internal medicine. I think the scale of genomics is obviously somewhat broader than many individuals have seen in the types of data that they deal with on a day-to-day basis, but I think that's something that's happening in everybody's life, and every aspect of your life, you have many more channels to deal with, you have many more choices in the supermarket to deal with. I don't see this as a sort of existential challenge to medicine; quite the opposite. In my experience, the core things that we need to remember is that DNA is no different from any other assay, except for the fact that it's relatively straightforward to do DNA diagnostics. It's technically not as sensitive a set of biochemical issues as are many other assays that we use in day-to-day clinical practice. The other thing that I think is perhaps a key element is that I said a few minutes ago, it's a [inaudible 00:08:35] dataset and it's stable for your whole life. You only need to have it tested once. It's sort of invert to the typical diagnostic paradigm, so instead of a primary test being interpreted in the context of an ongoing clinical event, the test may have been present for four decades and the results will evolve over time in light of the changing phenotype or some new information in respect to that genotype. What I've actually looked on genomics as is almost an organizing principle for the way that you build care. In fact, I see quite frequently, we probably now have an average one or two new patients a month in my clinic who bring their entire full genome with them, either an exome or a whole genome. We've begun to really get to know quite well how to manage patients. Obviously they're a select group of patients but one of the things that I find is that patients are really quite astute in understanding that genotype and phenotype are not deterministic relationships. What you have to do is always interpret these things in context of a probabilistic understanding. Most patients I think when they're told this understand that we're going to learn much more about genomics going forward than we will ever imagine that we could know at the present. That will involve lots of different things. It will involve new ways of displaying data, new ways of thinking about the data in the clinical context. I actually think one of the most interesting things about genomics and to be honest any assay is that they rarely reach any form of maturity until they are used in the clinic, until they are actually used in implementation. For example, many genetic tests at the moment don't change therapy and they don't change outcomes, but partly that's because they've never been studied in that context, and one of the things that I think [inaudible 00:10:45] has to be really congratulated for is his focus on pharmacogenomics as being one of the early areas in which this will really move forward. I believe that by immersing ourselves in it, by actually trying it within the clinic where we're going to learn much more, and part of that gets back to the original topic that we spoke about, which is phenotype. The only way to really begin to understand collection of phenotype is if you do it in the context of existing genotype I think. As we move into new phenotypic areas, we're not going to be able to test everything and everybody. I think there the genome will end up being an important framework, lifelong framework for the management of a patient's diagnosis, prognostication and then therapy, potentially in that order. I think you need a whole different set of skills, you need a whole different set of technologies, but most importantly you need information that you can interpret in the context of the person in front of you. Until you can make mechanistically important insights with one person, it's going to be very difficult for genomics to really change medical care. That's something I think we should be focusing on. I think we've tended to have an associate of strategy for genetics. We haven't driven it into the clinic. As we drive tests into the clinic, whether it's troponin T or whatever, you begin to understand much better how to use them, although sometimes that can also go in quite extreme directions that you may not necessarily anticipate. I mean, troponin originally was a stratification tool for acute coronary symptoms, and now it's virtually a diagnosis in its own right. I think you'll see that tendency revert over time as people begin to understand the biology of troponin, of isoform switching in peripheral tissues of the way in which troponin may represent very different disease biologies. At the moment, it seems like it's a very simple and straightforward yes/no type of test. There's no such thing in medicine, and I think that's what we're learning about genomics and so instead of conceiving it as a series of 10 to the nine yes/no tests, we're going to end up with a very different vision and view of how it can be implemented to clinical practice. That can only come from having clinicians and geneticists work together on this. In fact, one of the things that we've been doing in the partners environment with some of our colleagues, and I have NIH funding to do this with Heidi [Ream 00:13:31], with Sandy [Aronson 00:13:34] and with Sean Murphy is to think about how we display data, but also how we collect information in light of that genomic data that helps in an iterative way in the learning fashion inform genotype phenotype relationships in a much more probabilistic manner than we have done to date. There are lots of efforts and that's great, that just happens to be one that I'm involved in, but I think it's a generalizable approach that you're going to see moving into the clinic in the next few years. From the standpoint of training, I think what you want to do is get exposure to all types of genetic information so you understand common [alleles 00:14:15], rare alleles, genomics and individual panels and I think the best way of doing that is to have it be part of training programs. In fact, with one of my junior colleagues, Dr. Aaron Aday, we recently wrote a short piece highlighting how important it will be for all of us to come together to think about how do we start to introduce the concepts of genomics into standard clinical training programs, and that's something we're working on fairly avidly at the Brigham and I'm sure there are, I know there are efforts at many other institutions to do similar things. Dr Anwar Chahal: That article is published in Circulation in July of this year if anybody wants to download that. I think if we talked to clinical trainees and asked them what are their concerns about training, as you know training can be very long in cardiology, which is a procedurally based specialty whether or not you become an invasive proceduralist at the end of it, there is that component at the beginning, and do you think a standard, in the US, a standard three-year program with two years of clinical and one year of research can incorporate that at a sound enough level to allow somebody to practice or do you think we're going to look at increasingly a one-year or a six-month sort of add-on fellowship for those interested more on the inherited side or more on the genomic side? I, like yourself, trained in London and the training programs are longer in the UK. It was probably six years when you were there. It shortened to five, and now increasingly it's going to become six and maybe even more with a general fellowship for five years and then a super advanced fellowship and inherited cardiovascular conditions certainly there has become a module that is encouraged for people to take and then become somewhat certified in inherited cardiovascular conditions. What do you think there in terms of incorporating all of that as well as learning basics of eco and device therapy and catheterization? What are your thoughts there? Dr Calum MacRae: Again, I look at this as a spectrum. I think there's a trajectory for all of these types of innovation and knowledge and it starts off being super specialized, it goes into a more general location, and then eventually it's an integral part of everybody's clinical practice. I do think that what you're going to see is rather than, and this is already I think the case in many elements of medicine, medicine has already exceeded the knowledge base even when I was training by probably a long order in terms of the complexity and extent of content, not that I trained that long ago. One of the core elements I think that we're seeing is that we need to move medicine from what I believe has become somewhat de-professionalized, say, to one where you're focusing on, not on the actual core knowledge that you bring with you to the table, but actually the way in which you integrate knowledge. I think the focus of training is going to change somewhat. It has had to change in other fields. Medicine I think for a long time favored that sort of single, comprehensive approach in one mind. Medicine is going to become more of a team sport and it's also going to become more of a knowledge integrator profession than it has been for some time. It's interesting, when medicine started there was so little knowledge that you really had to have almost every physician be an experimentalist using [inaudible 00:18:37] experiments in front of them. I think the way that I see medicine evolving is that as the knowledge base and the rigor of that knowledge base improves, many of the things that we think of as professional activity today will actually devolve to primary care, and to be honest into the community. There are many things where the rigor of the underlying data are such that there's no reason for a provider to be involved, for a licensed provider to be involved. We allow our patients to install their own wireless networks without a technician. I'm sure most of them can look after their own lipids pretty effectively if they were given the right information. A lot of stuff will begin to move in that direction. As that happens, I think the way in which information is displayed, the way in which data are collected and the workflow around integrating information will change. That doesn't get past the point that you brought up, which is that that will probably take a couple decades and in the interim, I think people are going to end up training in modules of sub-specialties, but I think one of the things that I sometimes like to ask myself is, "What's the end game? Where is this going to end up? Can we build systems that train directly for that end game rather than going through these intermediate steps?" I think that's something where I think we tried in the short piece that we wrote in Circulation to argue that everybody should have some exposure and that that exposure can change over time. We should be equipping people not to know genomics but to be able to learn how genomics is impacting their patients for the next 50 years. That model of professional training is actually the one that really was the dominant model until maybe a hundred years ago, and then the reasons for it don't quite seem obvious to me, at least at the moment. We sort of tended to slowly move to more of a learned knowledge base that was then applied. Physicians sort of steadily got to the point where we're now data entry clerks. The actual amount of professional and intellectual engagement has I think slowly diminished in many medical sub-specialties and medical specialties. The opportunity that genomics and other advancements in technology in medicine bring is the chance to I think re-professionalize ourselves to move from just simply defining ourselves in terms of the knowledge base that we each bring to the table, but defining ourselves rather in terms of how we put the knowledge together around individual problems and individual patients, a very much more patient-centered, biological approach than perhaps we've had over the last couple of decades. I think these are, I'm obviously stating a lot of this in somewhat in extremes, but I think these are general trends that you see in medicine. They've happened in other fields as well and people have overcome them. It's usually a function of changing the workflow itself, of changing the way in which the information ends up in the professional's hands and how you collect the data that you use then to interpret the existing knowledge. That I believe we haven't really reworked probably since Osler's time. It is amazing that we still have workflow, I mean it's amazing in lots of ways. It's an amazing tradition. It is quite interesting that we still have workflow that's probably largely dependent on what Osler liked to do when he was growing up, in terms of the times of day that he got up and his workflow. That's sort of instantiated in many ways in everything that we do. Nothing entirely wrong with it, but there's a lot happened since then that we haven't really changed. Medicine is not yet in many instances a 24/7 profession, and yet most other things that have much less in the way of impact in society are already 24/7 professions in many settings. I think you're going to see a lot of demographic changes in medicine come from the advent of technology in other industries. I think those will all transform the way that we imagine training in medicine. Along the same sort of timeline as some of the traditional approaches that you described, building out a training module and then having a subgroup of people do six months or a year of extra training. I see that as a short-term solution. I think ultimately longer term solutions are changing the whole workflow of medicine. Dr Anwar Chahal: What have you done in your own program at the Brigham to introduce genomic medicine training for fellows? Dr Calum MacRae: We are building out, obviously we have a fairly large cardiovascular genetics clinic, I think probably the largest in the world. We have now seven, soon to be eight providers working only and wholly in cardiovascular genetics. We therefore have the ability to have our fellows rotate through our genetics clinic. We have in-patient and out-patient genetic services and we also obviously involve our fellows in a lot of the academic pursuits going on in both our genetics and genomics programs in the cardiovascular clinics, as we do our colleagues who are no longer in training. We have regular, in our clinical conference slot we have several times a year, we have a genetics component, and then what we have also is an integrated training program with clinicians and pathologists that is really bringing the individuals who are understanding the technical aspects of the genetic testing with the individual sort of learning and understanding the clinical aspects of that testing. We imagine over time that this will evolve into potentially the type of specialist module that you described but also into a fixture that goes all the way through our two-year clinical training program. We've sort of taken the point of view that we probably need to do a bit of both. We need to, given what I said in the last few minutes, that we need to take a thread that recognizes a short-term and intermediate term need for specialization but also recognizes that we have to equip every one of our trainees and every one of our physicians with the ability to begin to learn the underlying science of genomics and the underlying approaches to using genomics in every aspect of clinical cardiology. We're doing both of those things and have active efforts in both. Dr Anwar Chahal: You mentioned integration with pathologists but for our colleagues who are not clinicians, what about the research angle and the scientists when they're in training, is that integrated so that we are getting this meeting of minds that is essential? Dr Calum MacRae: Absolutely, in fact we, thanks to a variety of efforts at Brigham Women's we have now at least three separate venues in which this occurs. I mentioned cardiovascular genetic clinic. We also have a genomic medicine clinic, which I'm one of the clinical codirectors for, where we actually have cases of [inaudible 00:26:45] through routine clinical care that seems as if they would benefit from whole genome or whole exome sequencing, and then we have a weekly conference that's actually led by Dick [Mass 00:26:58] and Shamil [Sonaya 00:27:01], two of our genetics colleagues and takes in specialists from all throughout medicine as well as scientists from the entire Harvard Medical School environment, and so we bring everybody together around mechanistically solving individual clinical cases. The third venue is one that's part of a national network, the undiagnosed diseases network. We're one of the sites on the national, the NIH-funded UDN network. There again one of the themes is identifying individuals or families who would benefit from both rigorous genomic analyses as well as much deeper phenotyping. That's been a program that I think has been very exciting and one that we again have learned a huge amount from in terms of how do you begin to build the infrastructure that brings not just the first clinician to see the patient, but somebody who, a whole team of people who understand and can evaluate all the biological aspects that are relevant in that patient. Then also brings to bear the scientific expertise that you might need in order to make a mechanistic connection between genotype and phenotype in that one individual, and some of that involves animal modeling. In cancer for example there's a concept that has emerged over the last two to three years of what's called co-clinical modeling that once you've identified some of the genomic features it allows you to begin to model in an animal in parallel with the trajectory of a patient- Dr Anwar Chahal: [inaudible 00:28:40] as some people call them. Dr Calum MacRae: Exactly. Creating an avatar. In many instances that's an avatar that includes multiple different disease models. We've begun to do that in the cardiovascular space. I think obviously it's early days yet, but I think there are lessons to be learned about how you build the types of infrastructure that allow people to move beyond this state where a patient's outcome is dependent on him seeing the right doctor on the right day at the right time. There are actually systems that funnel the patients into the right venue based on objective criteria at every stage. I think that's the type of re-organization, re-imagination of the medical system that we need. We sort of duplicate things in lots of different areas and you're still dependent on hitting the right specialist at the right day at the right time, or not seeing a specialist, seeing a generalist on the right day at the right time, who's able to put everything together, or even hitting somebody who has the time to listen to your story in a way that helps you identify the exposure or the genetic basis of your condition. If we recreate the professional environment that I talked about earlier, I think, in ways that are both traditional and novel at the same time, I think we'll do ourselves a great service and build a platform that lets all of the technologies, including genomics that we've talked about today, begin to impact patients in a real way on a regular basis. Dr Anwar Chahal: Thank you for that Dr. Calum MacRae for giving up your precious time and sharing your thoughts and insights and experience. Dr Calum MacRae: Thank you for your time and I've enjoyed talking to you. Dr Anwar Chahal: Thank you Dr. MacRae.

Bio-IT World Expo 2017 | Genomic Medicine: Bioinformatics, Whole Genomes and the Future of the Field

Play Episode Listen Later Mar 20, 2017 7:21

Liz Worthey of HudsonAlpha Institute for Biotechnology speaks to Cambridge Healthtech Institute on March 9, 2017. She will be a featured presenter during a shared session for the Clinical Genomics and Data Security conferences at Bio-IT World Conference & Expo, May 23-25 in Boston, Massachusetts. For more information, please visit http://www.Bio-ITworldExpo.com/

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A Sneak Peek into the Future of Clinical Genomics with Ben Solomon, Inova

sneak peek inova clinical genomics

Play Episode Listen Later Apr 27, 2016

We hear from some that soon each baby's genome will be sequenced at birth. This vast amount of genomic information will be stored in a person's medical record for life and be referenced for personalized healthcare, be it for a diagnostic, a prognostic, or a prediction. But others say that it is still way too early to be generating so much information on each person when we know so little about the genome. This camp argues that we should deal with patients on a case by case basis using a more targeted approach.

Bio-IT World Expo 2016 | Sharing Genetic Data in Clinics, Ethics and Pediatrics

Play Episode Listen Later Mar 2, 2016 3:54

Samantha A. Schrier Vergano of Children’s Hospital of the King’s Daughters speaks to Cambridge Healthtech Institute on February 15, 2016. Dr. Schrier Vergano will give her presentation during a shared session for the Clinical Genomics and Open Source Innovations conferences at Bio-IT World Conference & Expo, April 5-7 in Boston, Massachusetts. Topics include challenges when validating clinical utility of genetic variants, ethical quandaries of sharing genetic data in clinical settings and focusing on medical genetics with a pediatric angle. To learn more, please visit http://www.Bio-ITWorldExpo.com/

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Bio-IT World 2016 | Improving Clinical Research and Patient Care with Health Informatics

Play Episode Listen Later Feb 17, 2016 11:12

Louis Fiore of Veterans Affairs Boston Healthcare System speaks to Cambridge Healthtech Institute on February 10, 2016. Dr. Fiore will give his presentation during a shared session for the Clinical Genomics and Cancer Informatics conferences at Bio-IT World Conference & Expo, April 5-7 in Boston, Massachusetts. Topics include aggregating and reusing Electronic Health Record (EHR) data for quality improvement, discovery and validation of genomic knowledge; MAVERIC's Point of Care Research Program and Precision Oncology Program; the value of Veterans Affairs programs for clinical genomics research; and empowering clinicians to make more informed decisions for patients. To find out more, visit http://www.Bio-ITWorldExpo.com/

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Molecular Diagnostics Europe 2016 | Mitochondrial DNA

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Play Episode Listen Later Jan 4, 2016 6:04

CHI chats with Bert Smeets, Ph.D., Professor, Clinical Genomics, Mitochondrial Diseases, Maastricht University Medical Center. Dr. Smeets discusses the latest research and developments on diagnosing mtDNA disease using Next-Generation Sequencing, as well as his work in developing techniques to prevent mtDNA disease transmission and developing therapeutics for those affected by mtDNA disease. Dr. Smeets is one of our speakers for the Novel Diagnostic Approaches session at the Reproductive Genetic Diagnostics conference, 6-7 April, in Lisbon. For details, visit http://www.MolecularDXEurope.com/Reproductive-Genetic-DX

Improving the Backbone of Clinical Genomics : Valerie Schneider, NCBI

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Play Episode Listen Later Apr 7, 2015

When President Bill Clinton stood with Francis Collins and Craig Venter in 2001 to announce the sequencing of the genome, the genome wasn’t really done.

BioIT World 2015 | Applying Data Science, Bioinformatics and Networks to Cancer Genomics

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Play Episode Listen Later Jan 20, 2015 8:52

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/

Clinical Genomics: When Whole Genome Sequencing is like a Whole-body CT Scan

Clinical Chemistry Podcast

Play Episode Listen Later Dec 15, 2014 14:35

Over the past decade genomic testing has emerged as a clinical tool available in multiple hospital and independent laboratories across the United States. In the November 2014 issue of Clinical Chemistry, an opinion article titled "Clinical Genomics: When Whole Genome Sequencing Is like a Whole-body CT Scan" framed the clinical utility of genomic testing in the context of another recently transformative test, whole-body computed tomography scanning, more commonly known as a CT scan.

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The Progress of Clinical Genomics in Sweden with Ulf Gyllensten

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Play Episode Listen Later Oct 16, 2014

Guest: Ulf Gyllensten, Professor, Department of Immunology, Genetics, and Pathology, Uppsala University, Sweden Bio and Contact Info Listen (4:24) What are your goals at the National Genomics Infrastructure?

Eric Schadt on Long Read Sequencing and Clinical Genomics

Play Episode Listen Later Sep 23, 2014

Guest: Eric Schadt, Professor & Chair Genetics and Genomic Sciences, Director Icahn Institute for Genomics and Multiscale Biology Bio and Contact Info Listen (5:01) Getting buy-in from a few lead doctors

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Clinical Genomics Takes Hold in Iowa: Colleen Campbell, IIHG

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Play Episode Listen Later May 27, 2014

Guest: Colleen Campbell, Assistant Director, University of Iowa - Iowa Institute for Human Genetics Bio and Contact Info Listen (2:35) How are you implementing genomic medicine?

BioIT World Expo 2014 | Identifying Functional Elements of the Human Genome

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Play Episode Listen Later Feb 24, 2014 5:00

An-Dinh Nguyen interviews Christopher Mason of Weill Cornell Medical College on February 21, 2014. Dr. Mason will be speaking during the Clinical Genomics meeting at Bio-IT World Conference & Expo 2014, April 29-May 1 in Boston, MA. Topics include the use of bioinformatics methods in genomics to study diseases, researching the human genome’s functional elements through aggressive tumors and other extreme cases, applying an evolutionary perspective and more. Learn more at: http://www.bio-itworldexpo.com

Clinical Genomics Podcast | Genetic Analysis of Cancer

Play Episode Listen Later Oct 25, 2013 9:11

An-Dinh Nguyen interviews Zoltan Szallasi of Harvard Medical School and Danish Technical University on 23 October 2013. Dr. Szallasi will be speaking during the Genome Informatics conference at the Clinical Genomics & Informatics Europe Conference & Expo on 4-6 December, in Lisbon, Portugal. Topics include: • Clinical Validation and Analysis of Cancer Genomic Data • Computational and Experimental Methods for Detecting Genomic Instability • Quantifying Homologous Recombination in Tumor Biopsies • Platinum Sensitivity in Breast Cancer • Adapting to Next-Generation Sequencing

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Clinical Genomics Podcast | Public Health Genomics, Data and Ethics

Play Episode Listen Later Oct 25, 2013 5:40

An-Dinh Nguyen interviews Anne Cambon-Thomsen of CNRS on 23 October 2013. Dr. Cambon-Thomsen will be a keynote speaker during the Genome Informatics conference at the Clinical Genomics & Informatics Europe Conference & Expo on 4-6 December, in Lisbon, Portugal. Topics include: • Interdisciplinary Aspects of Public Health Research • Ethical, Societal and Legal Issues • Applications of Immunogenetics Research • Genomic Data Sharing vs. Privacy Protection

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Clinical Genomics Podcast | Genetics and the Public

Play Episode Listen Later Oct 16, 2013 5:29

: An-Dinh Nguyen interviews Heidi Carmen Howard of Radboud University Medical Centre and INSERM on 16 October 2013. Dr. Howard will be speaking during the Genome Informatics conference at the Clinical Genomics & Informatics Europe Conference & Expo on 4-6 December, in Lisbon, Portugal. Topics include: • The Translation of Genetic Data into the Clinic • The Necessity of Ethical, Social and Legal Considerations in Genomics • Genetics for Consumers, Patients and Public Health

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Thoughts on clinical genomics

Play Episode Listen Later Oct 15, 2013

Dan Graur, the "Very Angry Evolutionary Biologist" Part 6

clinical genomics

Clinical Genomics Podcast | The Importance of RNA-Sequencing

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Play Episode Listen Later Oct 11, 2013 13:56

Kip Harry interviews Dr. David Smith from the Mayo Clinic, and Dr. Melanie Lehman from Queensland University of Technology for the upcoming RNA-Seq and Transcriptome Analysis meeting, 5-6 December in Lisbon, Portugal. Discussion points during the interview include: • The advantages of using RNA-Seq for expression analysis over microarrays • The impact of RNA-Seq on research and recent advances in the applications of this technology • Ways in which RNA-Seq is being utilized clinically • Current challenges/limitations with RNA-Seq

Clinical Genomics Podcast | IT Infrastructures for Genomic Data Management and Clinical Practice

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Play Episode Listen Later Oct 8, 2013 7:44

An-Dinh Nguyen interviews Niklas Blomberg of ELIXIR on 7 October 2013. Dr. Blomberg will be a keynote speaker during the High-Scale Computing conference at the Clinical Genomics & Informatics Europe Conference & Expo on 4-6 December, in Lisbon, Portugal. Topics include: • Bioinformatics for Managing Large Data Volumes • Sustainable IT Infrastructures for Life Science Research and Clinical Practice • Advances in IT Infrastructures for Genomic Data Management and Analysis • ELIXIR’s Mission, Considerations and Challenges

Clinical Genomics Podcast | Cloud Computing and Storage for Genomic Research and the Clinic

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Play Episode Listen Later Oct 8, 2013 11:11

An-Dinh Nguyen interviews Wolfgang Gentzsch of The UberCloud HPC Experiment on 4 October 2013. Dr. Gentzsch will be speaking during the High-Scale Computing conference at the Clinical Genomics & Informatics Europe Conference & Expo on 4-6 December, in Lisbon, Portugal. Topics include: • Cloud Computing Services for R&D Scientists and Engineers via UberCloud • Progress in Cloud Computing and Storage for Genomic Research and Clinical Practice • Challenges: Security, Data Management, Software License Restrictions • EUDAT’s Collaborative Data Infrastructure

Clinical Genomics Podcast | Highlights from the Upcoming Clinical Exome Sequencing Conference