Podcasts about whole exome sequencing

In this episode we speak with Dahlia Attia-King about advances in Medical Genetic Testing. Dahlia is the Founder and CEO of Panacea and has a Bachelor of Science in Biology and Chemistry from the University of Miami. Dahlia's experience working for genetic laboratories exposed her to the reality that very few patients were able to access valuable preventative clinical genetic tests. With an additional 6 years in Healthcare IT, Dahlia learned about the technology solutions integral in pushing healthcare into a much needed era of modernization. After embarking on a multi-year journey to unravel the reasons for genetic testing underutilization, she met Dr. Hinco Gierman and they were inspired to create a solution. Panacea was founded with a mission to improve access to clinical genetic testing so that people can get in control of their health and prevent disease. Panacea now offers residents of almost every state the ability to access at-home clinical genetic testing called Whole Exome Sequencing, empowering people to potentially save their own lives. Learning Points: o What is medical genetic testing and how is it different from tests like 23andMe o What should I do with my results and any genetic risks? o What are the limits of genetic testing? Social Media: https://www.instagram.com/panacea_genomics https://seekpanacea.com/

Health and wellness coaches can now help people take control of their health in a different way—through genetic testing! Genetic testing can help people identify disease risks and make informed healthcare decisions. Dahlia Attia-King discusses genetic testing options—whole exome and genome sequencing—and how it can help someone identify disease risk and how health coaches can help clients with genetic testing.    In this episode, they talk about: What is whole exome and genome sequencing The cost of whole exome and whole genome sequencing The high costs of genetic testing in the US healthcare system and Panacea's discounted whole exome sequencing  The difference between clinical genetic testing and testing with companies like 23andMe Reasons a doctor would have for sending someone for genetic testing Do health coaches or doctors need to worry about interpreting genetic tests if they refer someone to Panacea Lifestyle changes that could help reduce the risk of genetic mutation-related diseases Would it work to have one family member get tested and share results, or does everyone need their own test Risks of data breaches and Panacea's approach to keeping the data safe The different types of risks associated with genetic testing – technical, physical, psychological   Memorable Quotes   “Panacea has empowered me as a human being to get in control of my health and not let my genes determine my destiny. I'm determining my destiny.”   “Your genes are not your destiny. And that is nowhere more true than in genetic testing. Because if you can uncover where your genes might be carrying some danger for you, then you can outsmart them, get ahead of it, and be in control.”   “The power of genetic testing is in its ability to give you an idea of what your future could look like and how you can change it.”   BIO:  Dahlia is the Founder and CEO of Panacea and has a BS in Biology and Chemistry from the University of Miami. Dahlia's experience working for genetic laboratories exposed her to the reality that very few patients were able to access valuable preventative clinical genetic tests. With an additional 6 years in Healthcare IT, Dahlia learned about the technology solutions integral in pushing healthcare into a much needed era of modernization. After embarking on a multi-year journey to unravel the reasons for genetic testing underutilization, she met Dr. Hinco Gierman and they were inspired to create a solution. Panacea was founded with a mission to improve access to clinical genetic testing so that people can get in control of their health and prevent disease. Panacea now offers residents of almost every state the ability to access at-home clinical genetic testing called Whole Exome Sequencing, empowering people to potentially save their own lives.   Mentioned In This Episode: Email: contact@seekpanacea.com  Panacea Website: https://seekpanacea.com/ Panacea on Facebook: https://www.facebook.com/panaceagenomics/  Panacea on Instagram: https://www.instagram.com/panacea_genomics/   Links to resources: Health Coach Group Website https://www.thehealthcoachgroup.com/ Use the code HCC50 to save $50 on our website Leave a Review of the Podcast

This DermSurgery Digest bonus content, aptly named “At The Microscope,” shares the latest research and techniques in dermatopathology as it is applicable to dermatologic surgery. In this episode, contributors will review literature on squamoid eccrine ductal carcinomas (SEDCs). Contributors to this podcast include Naomi Lawrence, MD, Dermatologic Surgery Digital Content Editor; Ashley Elsensohn, MD, MPH, DermSurgery Digest At the Microscope co-host; Christine Ahn, MD; Jeff Gardner, MD; Marina K. Ibraheim, MD; and Michael P. Lee, MD. Articles featured include: Frouin E, Vignon-Pennamen MD, Balme B, Cavelier-Balloy B, Zimmermann U, Ortonne N, Carlotti A, Pinquier L, André J, Cribier B. Anatomoclinical study of 30 cases of sclerosing sweat duct carcinomas (microcystic adnexal carcinoma, syringomatous carcinoma and squamoid eccrine ductal carcinoma). J Eur Acad Dermatol Venereol. 2015 Oct;29(10):1978-94. doi: 10.1111/jdv.13127. Epub 2015 Apr 15. PMID: 25873411. van der Horst MP, Garcia-Herrera A, Markiewicz D, Martin B, Calonje E, Brenn T. Squamoid Eccrine Ductal Carcinoma: A Clinicopathologic Study of 30 Cases. Am J Surg Pathol. 2016 Jun;40(6):755-60. doi: 10.1097/PAS.0000000000000599. PMID: 26796504. Lim MM, Macdonald JA. Squamoid Eccrine Ductal Carcinoma: Treatment and Outcomes. Am J Dermatopathol. 2022 Apr 1;44(4):249-253. doi: 10.1097/DAD.0000000000002072. PMID: 35287138. Grube VL, Ahmed S, McCoy K, Ashi S, Hafeez F. Whole-Exome Sequencing of a Case of Squamoid Eccrine Ductal Carcinoma Reveal Similarities With Cutaneous Squamous Cell Carcinoma. Am J Dermatopathol. 2023 Jul 1;45(7):495-498. doi: 10.1097/DAD.0000000000002456. PMID: 37249370.   Please submit questions to be answered in future episodes to communicationstaff@asds.net.

Dahlia Attia-King, CEO of Panacea, is bringing whole exome sequencing to a broader audience and promoting the value of this data for disease prevention and making smarter lifestyle choices. She highlights the differences between whole exome sequencing and whole genome sequencing, noting that whole exome sequencing can be conducted more cost-effectively and provide information about the genes most likely to impact health.   Dahlia explains, "These two barriers, the physicians and the insurers, are sometimes big barriers to accessing clinical genetic testing for people, even those who need it and those who fit the current guidelines. We aim to bypass those barriers and partner with very skilled CLIA/CAP certified laboratories. We partner with trained clinical genetic counselors. We partner with physicians who understand how to utilize genetic testing, and we bring those services collectively in one very simple, user-friendly experience so that no one who wants genetic testing will struggle to get it." "We do that and focus on whole exome because, number one, it's more cost-effective. It's actually quite a lot more expensive to sequence the entire genome. So when you focus on just the genes, you focus on the 20,000 plus genes in the genome and nothing else. But that's so valuable because the vast majority of changes or mutations in your genome that affect your susceptibility for disease happen in the exome." "But to your point, there is also a large amount of data that can come off the exome that is interpretable. And in a lot of cases, just like you said, it's actionable, which means that information can be used to make certain targeted decisions in your healthcare so that you can essentially, in a way, get ahead of your genes or outsmart your genes because you're prepared. You know the instructions that your genes are holding and where your risks might be. That way, you can certainly better target your healthcare and take a more preventative approach as opposed to a reactionary approach, which happens in most cases in today's healthcare." #SeekPanacea #WholeExomeSequencing #WholeGenomeSequencing #Genome #PreventativeMedicine seekpanacea.com Listen to the podcast here  

Dahlia Attia-King, CEO of Panacea, is bringing whole exome sequencing to a broader audience and promoting the value of this data for disease prevention and making smarter lifestyle choices. She highlights the differences between whole exome sequencing and whole genome sequencing, noting that whole exome sequencing can be conducted more cost-effectively and provide information about the genes most likely to impact health.   Dahlia explains, "These two barriers, the physicians and the insurers, are sometimes big barriers to accessing clinical genetic testing for people, even those who need it and those who fit the current guidelines. We aim to bypass those barriers and partner with very skilled CLIA/CAP certified laboratories. We partner with trained clinical genetic counselors. We partner with physicians who understand how to utilize genetic testing, and we bring those services collectively in one very simple, user-friendly experience so that no one who wants genetic testing will struggle to get it." "We do that and focus on whole exome because, number one, it's more cost-effective. It's actually quite a lot more expensive to sequence the entire genome. So when you focus on just the genes, you focus on the 20,000 plus genes in the genome and nothing else. But that's so valuable because the vast majority of changes or mutations in your genome that affect your susceptibility for disease happen in the exome." "But to your point, there is also a large amount of data that can come off the exome that is interpretable. And in a lot of cases, just like you said, it's actionable, which means that information can be used to make certain targeted decisions in your healthcare so that you can essentially, in a way, get ahead of your genes or outsmart your genes because you're prepared. You know the instructions that your genes are holding and where your risks might be. That way, you can certainly better target your healthcare and take a more preventative approach as opposed to a reactionary approach, which happens in most cases in today's healthcare." #SeekPanacea #WholeExomeSequencing #WholeGenomeSequencing #Genome #PreventativeMedicine seekpanacea.com Download the transcript here  

Join me as I walk through my comprehensive DNA test! I took the Circle DNA's Premium DNA test, which includes over 500 results across diet, nutrition, fitness, cancer and disease risk, ancestry, and drug response. I walk through highlights from my report, some of the science behind the results, and who I think should get this test done. Use code JANEZHANG for 40% off the Premium DNA test from Circle DNA: https://circledna.com/premium Jump to section: 2:20 How the test works - Whole Exome Sequencing 4:42 Diet results6:20 Alcohol sensitivity and scientific details13:16 Salt sensitivity 15:52 Detox: cruciferous vegetable needs19:43 Red meat consumption 22:30 Co-enzyme Q1025:08 Vitamin B1227:20 Stress & sleep 30:22 Pollution & skin 30:51 Fitness 34:48 Ancestry 39:06 Family planning 41:58 Cancer risks 44:08 Disease risks 45:37 Drug response 48:15 Who is this test for? Was is it worth the investment? Nutrigenomics episode with Chef Dr. Mike: https://open.spotify.com/episode/4yZNqQclezjXEULoXteGpZ?si=cb1bb5c4cbab4dda Connect with Jane Z. on Instagram at @farm.to.future

Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene. Mike Graglia has always worked on complicated problems – he can't help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation. His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1.Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine. On This Episode We Discuss:Mike's experience as a patient advocate and his son Tony's diagnostic odyssey Elli's role as a genetic counselor in diagnosing SYNGAPHow SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency)Sleep issues associated with SYNGAP and other symptomsThe prevalence of SYNGAP and why it's advantageous to identify 1,000 or more people with the conditionLabs and organizations that have been helpful in supporting the SYNGAP communityConnecting with fellow parents/caregivers who have kids with SYNGAPThe status of SYNGAP1 research and potential treatmentsMike's podcast, SYNGAP10You can learn more about Mike's family and the SynGAP Research Fund in this youtube video, and by following them on Twitter (SynGAp Research Fund, Mike Graglia), Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today kicking off the new year on January 6th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I'm sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that's analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that's a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored)Do you like listening to podcasts that help you get centered and reframe your mindset? Check out All Things Therapy. The show focuses on the concept that we can change consciousness one conversation at a time. Most episodes are the same length as ours, about a half hour, and feature an engaging guest. You can stream on all major podcast players by searching “All Things Therapy”.

Nicka Smith (she/her), a pro genealogist with over 20 years of experience, joins DNA Today for our second to last episode of the year! She is the host of BlackProGen LIVE, a web series focused on genealogy and family history with a special focus on people of color. Nicka Smith is a professional photographer, speaker, host, consultant, and documentarian with more than 20 years of experience as a genealogist. She has extensive experience in African ancestored genealogy, reverse genealogy, and is expert in genealogical research in the Northeastern Louisiana area, and researching enslaved communities. Nicka has diverse and varied experience in media with a background in audio, video, and written communications. She's appeared on TODAY Show, CNN, MSNBC, on the series Who Do You Think You Are and has been interviewed by Oakland Tribune, The Undefeated, National Geographic, and TIME. She is a citizen of the Cherokee Nation of Oklahoma, a member of two lineage societies (Sons and Daughters of the Middle Passage (SDUSMP), National Society of Daughters of the American Revolution (DAR)), and a past board member of the California Genealogical Society (CGS) and the African American Genealogical Society of Northern California (AAGSNC). Nicka served as the chair of the Outreach and Education Committee for AAGSNC, and is the former project manager for the Alameda County, CA Youth Ancestral Project where more than 325 youth were taught the value of family history. On This Episode We Discuss:Why people are drawn towards ancestryHow ancestry can be valuable informationWhy the ancestry percent changes over time in direct-to-consumer DNA testingCompanies with diverse databasesHow genetic testing companies can be more inclusive with their databasesWhy it's helpful to look at the Y chromosome and mitochondrial DNA when exploring maternal and paternal specific lineageHow haplogroups can help with ancestry researchTracking down formerly enslaved ancestors and which records to useNicka's personal experience tracking her family historyKira mentioned a few videos and blog posts from Nicka Smith includingTrask 250 Multimedia Series, How to Trace Your Ancestors as Slaves, and 5 Lies About African American Genealogy and Family History Research. Learn more about Nicka and her important work on her website, and follow her on Twitter, Facebook, Instagram, and YouTube.Stay tuned for the next new episode of DNA Today on December 30th, 2022! This will be our final episode of 2022, and we'll be joined by Mike Graglia and Elli Brimble to discuss SynGAP10. New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I'm sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that's analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that's a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)

Our guest today is Dahlia Attia-King, Founder and CEO of Panacea. Panacea's mission is to improve access and utilization of genetic testing by offering affordable whole exome sequencing, physician oversight, and genetic counseling all in a 10 minute workflow. This week we are chatting about utilizing whole exome sequencing for preventive health. Dahlia's education in biology and experience working with genetic laboratories exposed her to the reality that many middlemen stood in the way of patients receiving valuable clinical genetic tests. She embarked on a multi-year journey to discover the reasons for the barriers and was inspired to create a solution. Dahlia and her co-founders founded Panacea with a mission to increase access to clinical genetic testing. With an additional 6 years in Healthcare IT, Dahlia learned about the technology solutions integral in pushing genetic testing and healthcare into a much needed era of modernization.On This Episode We Discuss:The difference between whole exome and whole genome sequencing Why WES vs panels? Examples of conditions that we can learn risk level for through WES The future of insurance coverage of WES for preventative health purposes Importance of pre-test education of tests How the cost of WES has changed over time Founding Panacea Depth of coverage of the sequencing through Panacea Post-test genetic counseling with Panacea To learn more about Panacea and WES, follow them on Instagram or head to their website.Stay tuned for the next new episode of DNA Today on December 23rd, 2022 where we'll be discussing African American Ancestry with Nicka Sewell-Smith! New episodes are released every Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Pharmacogenomics is a field of research that studies how a person's genes affect their response to medications. LetsGetChecked's myPGx, is a new offering for business clients. This robust testing panel identifies potential drug-gene interactions for over 100 drugs across behavioral health, cardiovascular health, and pain management. This accounts for over 800 million annual prescriptions in the US alone. To learn more visit letsgetchecked.com/mypgx. LetsGetChecked also provides access to testing, virtual consultations, and medication delivery for a range of health and wellness conditions from the comfort of home. Visit LetsGetChecked.com to shop their health tests and use code “DNATODAY” for 20% off! (Sponsored)

It's December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don't follow us on social media @DNATodayPodcast, here are this year's highlights…So far this year we have produced 1,747 minutes of new content, that's nearly 30 straight hours. And it's more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here. And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is info@DNAtoday.com Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Dr. Green's career has involved directing a major genomics research program and, most recently, leading NHGRI's efforts in funding genomics research. In this episode, we are discussing the top genetic and genomic news stories of 2022 including what you listeners submitted! Shoutout to Daniel, Nydia, M.SPDH, Anna, Ryan and Nykole. Throughout his career, he has authored and co-authored over 385 scientific publications. He was featured on episode #182 of DNA Today when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green's relationship with the Institute began long before his appointment as director. He served as the Institute's scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005).On This Episode We Discuss:Completion of the human genome sequence (telomere to telomere)The Genome-sequencing arms race (Lab mergers and changers)Top genomic medicine papers of 2022Changing landscape of the genomic diagnostic ecosystemGene therapy advances including CRISPR Genome Sequencing of Acutely Ill Newborns through beginNGS2022 Nobel Prize Physiology or Medicine to Svante Pääbo for sequencing Neanderthal genome What to look out for in 2023Here is a list of links to the papers and announcements we mentioned in this episode!Genomic Medicine Year in Review: 2022 (Paper)Genome.gov accomplishments in genomic medicine (includes 2019-2022 notable accomplishments)Dr. Green's tribute to Svante Paabo when he won the Nobel this year, with links to his talks at NIH.Our breakdown of Ultima's announcement and the sequencing costs developments this year.The epic T2T news, with background, links to the papers and some explainers.Based upon the success of gene therapy trials, there are new educational materials for the sickle cell community on how to navigate this new treatment option.DNA Today Episodes Referenced: Episode #169 Cytogenomics with Phase Genomics (Optimal genome Mapping) Episode #172 PhenoTips: Advances in Rare Disease Diagnosis (with Dr. Steven Kingsmore)Episode #182 Eric Green on the Complete Human Genome ProjectEpisode #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere ConsortiumEpisode #187 Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh (Optimal Genome Mapping)Episode #197 CRISPR Quality Control with Kiana AranEpisode #198 CRISPR Ethics with Sam Sternberg Episode #211 Jorge Contreras on The Genome DefenseBe sure to follow Dr. Green and the National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements!Stay tuned for the next new episode of DNA Today on December 16th, 2022, where we'll be discussing Preventative health through whole exome sequencing with Dahlia Attia-King of Panacea! New episodes are released every Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don't wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now. (SPONSORED)As a listener of DNA Today you have heard me interview countless guests about genetic testing. I'm sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that's analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. Their launch is starting with residents of Florida, so if you live in other states or countries sign up on their website to be notified when testing is available in your area. As a DNA Today listener you get 30% off (that's a $300 discount), just use the code “DNATODAY” at seekpanacea.com. (SPONSORED)

What do you do when your child is diagnosed with a rare, destructive disorder? What if you were told she was one of 30 others in the world identified with the disease and there was no treatment? Sophie's Neighborhood is a nonprofit organization founded in response to Sophie Feder Rosenberg's diagnosis of Multicentric Carpotarsal Osteolysis (MCTO) Syndrome. Sophie was misdiagnosed with Juvenile Idiopathic Arthritis for a year until the correct diagnosis was discovered through Whole Exome Sequencing, one of the most extensive genetic tests available.In a matter of a moment, our understanding of Sophie's condition went from being within a large subset of children with a very treatable disorder  - juvenile arthritis - to suddenly being one in 30 with a crippling, life-altering disease that has no treatment or cure.  Please visit www.sophiesneighborhood.org 

(00:32):Before we jump in, would each of you share a little bit about your background and yourselves? (01:18):Dr. Marcou. could you provide us with an overview of what the WESDX test is? (01:50):Marissa, would you help explain why this test is important? (03:10):In your experience who would benefit from WESDX,(05:12):How does a provider order A WES DX and secondarily what type of samples are accepted?(06:24):What types of variants are detected by the test? (07:47):There are a lot of exome tests available. What are some other unique features that set WESDX apart? (09:52):Last question, could you summarize the benefits of doing WESDX at Mayo?

Twenty-five percent of children who survive acute symptomatic seizures as neonates go on to develop epilepsy. Whilst there are several known risk factors, currently not enough is known about the mechanisms behind the development of epilepsy following neonatal brain injury, and thus it is not yet possible to reliably predict the individual risk of developing this disease in this group of patients.In this episode, we speak to Adam Numis from UC San Francisco. He and his team used whole exome sequencing with targeted gene analysis to look for genetic risk factors for developing epilepsy following acute neonatal seizures, and to identify potential biological processes behind this epileptogenesis. Read the study here. See acast.com/privacy for privacy and opt-out information.

Today we are talking to Professor Cathy Abbott; Professor of Mammalian Molecular Genetics at the University of Edinburgh, UK. With her lab team using CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) technology,  Cathy is working to find answers to the rare genetic epilepsy eEF1A; trying to figure out what's going on with the eEF1A gene when rare mutations of it can cause developmental delay, intellectual disability, and autism (in addition to the epilepsy). Cathy is very involved with patient families and has a website dedicated to communications with them - and anyone interested!**CHECK OUT THE YOUTUBE VIDEO WITH CATHY*** YouTube: https://www.youtube.com/c/TorieRobinson/videos **CHECK OUT CATHY*** Twitter: https://twitter.com/CathyAbbottLab **READ ABOUT CATHY'S WORK*** Uni of Edinburgh: https://www.ed.ac.uk/centre-genomic-medicine/research-groups/abbott-group * eEF1A2 Epilepsy: https://eef1a2epilepsy.com/who-we-are * Orcid: https://orcid.org/0000-0001-8794-7173 * Wikipedia: https://en.wikipedia.org/wiki/Catherine_Abbott **CONNECT WITH TORIE*** Website: https://www.torierobinson.com* Twitter: https://twitter.com/torierobinson10* LinkedIn: https://www.linkedin.com/torierobinson* Facebook: https://www.facebook.com/TorieRobinsonSpeaker **CHECK OUT TORIE'S YOUTUBE & BLOG*** YouTube: https://www.youtube.com/c/TorieRobinson* Blog: https://www.torierobinson.com/blog**HIRE TORIE AS A SPEAKER ON EPILEPSY, MENTAL HEALTH, DISABILITY, & DIVERSITY**https://www.torierobinson.com/contact

Peter Fedichev is an entrepreneur and scientist with over 20 years of experience in academic research and biotech business, co-founded three biotech companies: Quantum Pharmaceuticals, a drug discovery company, and Gero, a longevity startup and GlyNeura, a biotech-pharma company aiming to cure Neurodegenerative Diseases. Gero utilizes Whole-Exome Sequencing data for in-human AI Drug Discovery, while GeroSense is the arm of Gero creating Digital Biomarkers. His scientific background lies in the field of condensed matter physics, biophysics, and bioinformatics. He has conducted research at Kurchatov Institute, one of the leading science government agencies in Russia, AMOLF, an academic institute for fundamental physics in the Netherlands, and the University of Innsbruck. He earned his M.S. in theoretical physics from the Moscow Institute of Physics and Technology and Ph.D. from the University of Amsterdam and currently has over 65 publications (h=28) in peer-reviewed journals. He believes that nothing beats the joy of discovery, the power of physics to uncover the laws of nature, and the challenge of aging research. His dream is to beat aging and experience life in space. FIND PETER ON SOCIAL MEDIA LinkedIn | Facebook | Twitter ================================ SUPPORT & CONNECT: Support on Patreon: https://www.patreon.com/denofrich Twitter: https://twitter.com/denofrich Facebook: https://www.facebook.com/denofrich YouTube: https://www.youtube.com/denofrich Instagram: https://www.instagram.com/den_of_rich/ Hashtag: #denofrich © Copyright 2022 Den of Rich. All rights reserved.

Peter Fedichev is an entrepreneur and scientist with over 20 years of experience in academic research and biotech business, co-founded three biotech companies: Quantum Pharmaceuticals, a drug discovery company, and Gero, a longevity startup and GlyNeura, a biotech-pharma company aiming to cure Neurodegenerative Diseases. Gero utilizes Whole-Exome Sequencing data for in-human AI Drug Discovery, while GeroSense is the arm of Gero creating Digital Biomarkers. His scientific background lies in the field of condensed matter physics, biophysics, and bioinformatics. He has conducted research at Kurchatov Institute, one of the leading science government agencies in Russia, AMOLF, an academic institute for fundamental physics in the Netherlands, and the University of Innsbruck. He earned his M.S. in theoretical physics from the Moscow Institute of Physics and Technology and Ph.D. from the University of Amsterdam and currently has over 65 publications (h=28) in peer-reviewed journals. He believes that nothing beats the joy of discovery, the power of physics to uncover the laws of nature, and the challenge of aging research. His dream is to beat aging and experience life in space.FIND PETER ON SOCIAL MEDIALinkedIn | Facebook | Twitter================================PODCAST INFO:Podcast website: https://www.uhnwidata.com/podcastApple podcast: https://apple.co/3kqOA7QSpotify: https://spoti.fi/2UOtE1AGoogle podcast: https://bit.ly/3jmA7ulSUPPORT & CONNECT:Support on Patreon: https://www.patreon.com/denofrichTwitter: https://www.instagram.com/denofrich/Instagram: https://www.instagram.com/denofrich/Facebook: https://www.facebook.com/denofrich

In this episode, Scott R. Plotkin, MD, PhD, and Brian D. Weiss, MD, answer questions from a healthcare professional audience on topics related to NF1 and plexiform neurofibromas including:  Whole exome sequencing for diagnosisWhen to treat asymptomatic tumorsGenetic testing of family membersChoosing a MEK inhibitorSupportive care for acneiform rashOther RAS pathway inhibitorsPresenters:Scott R. Plotkin, MD, PhDExecutive DirectorPappas Center for Neuro-OncologyProfessor of NeurologyHarvard Medical SchoolBoston, MassachusettsBrian D. Weiss, MDClinical Professor of PediatricsCancer and Blood Diseases Institute Division of Oncology  Medical DirectorSolid Tumor ProgramCincinnati Children's Hospital Medical CenterCincinnati, OhioLink to full program, including downloadable slidesets, expert commentaries, and on-demand webcast:https://bit.ly/3AXckHQ

DNA Day and Match Day (for genetic counseling grad programs) are only one week away! To celebrate we have two exciting announcements. Announcement #1 Our host Kira Dineen will be live on Instagram with Dena DNA on Saturday April 24th, 2021 at 12pmPT/3pmET to celebrate both genetic holidays. Come with your genetics questions including genetic counseling graduate school questions! Head over to our Instagram for more info (@DNAradio), and maybe a giveaway… Announcement #2 We teamed up with Jackson Laboratories and Million Women Mentors CT to create a resource guide to help students and teachers learn about the importance of genetics in our everyday lives. The guide includes genetics lessons with worksheets to help engage students in genetics. It will be available on Monday April 19th at DNApodcast.com in anticipation for DNA Today on April 25th. Join our celebrations on social media using #CTDNADay! DNA Day Podcast Recommendation: Stream Episode 46 of DNA Today that celebrates DNA Day including the history of the day, activities, and careers in genetics. Our guest on this episode is Jo Bhakdi, the founder and CEO of Quantgene. His work in machine learning, sequencing technology, and DNA extraction procedures defines the cutting edge of genomic diagnostics, early disease detection, and precision medicine.Prior to Quantgene, Jo founded i2X, an investment framework that composes low-risk Venture Capital portfolios across large numbers of technology startups. The i2X platform laid important foundations for advanced analytics in both financial and biotechnology applications, such as the Quantgene machine learning platform.Bhakdi holds a Masters in Economics and Psychology from Tubingen University, one of Germany’s leading academic institutions, with a focus on financial theory and statistics. He kicked off his career at WPP and Omnicom, where he held Strategy and Executive Director positions.On This Episode We Discuss:Overview of whole exome sequencing (WES)Technology for WESWhole exome sequencing (WES) vs whole genome sequencing (WGS) vs gene panelsWhen to order WESDisorders diagnosed through WESTurn around time for WES resultsUS insurance coverage and cost of WESLimitations of WESFuture of WES, possibly replacing newborn screening or whole genome sequencing Learn more about whole exome sequencing here. You can check out Quantgene through their website. Stay tuned for the next new episode of DNA Today on May 7th, which launches our Cystic Fibrosis Series in honor of May being the awareness month. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.07.23.217976v1?rss=1 Authors: Bigio, B., Seeleuthner, Y., Kerner, G., Migaud, M., Rosain, J., Boisson, B., Nasca, C., Puel, A., Bustamante, J., Casanova, J.-L., Abel, L., Cobat, A. Abstract: The detection of copy number variations (CNVs) in whole-exome sequencing (WES) data is important, as CNVs may underlie a number of human genetic disorders. The recently developed HMZDelFinder algorithm can detect rare homozygous and hemizygous (HMZ) deletions in WES data more effectively than other widely used tools. Here, we present HMZDelFinder_opt, an approach that outperforms HMZDelFinder for the detection of HMZ deletions, including partial exon deletions in particular, in typical laboratory cohorts that are generated over time under different experimental conditions. We show that using an optimized reference control set of WES data, based on a PCA-derived Euclidean distance for coverage, strongly improves the detection of HMZ deletions both in real patients carrying validated disease-causing deletions and in simulated data. Furthermore, we develop a sliding window approach enabling HMZDelFinder-opt to identify HMZ partial deletions of exons that are otherwise undiscovered by HMZDelFinder. HMZDelFinder_opt is a timely and powerful approach for detecting HMZ deletions, particularly partial exon deletions, in laboratory cohorts, which are typically heterogeneous. Copy rights belong to original authors. Visit the link for more info

Dr. David Spetzler, President and Chief Scientific Officer at Caris Life Sciences® discusses MI Exome™ a next-generation sequencing-based assay analyzing the whole exome of 22,000 DNA genes. This new assay will be offered as part of the Caris Molecular Intelligence® suite of comprehensive profiling services that are designed to detect and characterize the molecular features of cancer to guide more precise individualized treatment decisions for patients.

Molecular diagnostics is now firmly entrenched in laboratory medicine and the January 2020 issue of Clinical Chemistry is devoted to this topic.  In that issue is a case report that presents an unconventional diagnosis based somatic findings through germline whole-exome sequencing.  Joining us in this podcast is the lead author of that case report, Dr. Jaime Lopes, who is currently a fellow at the Genomics Laboratory in the Department of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester, Minnesota. 

By Michael Tetreault, Host of The DocPreneur Podcast and Editor-In-Chief of Concierge Medicine Today and The DPC Journal Today we catch up with two precision medicine industry insiders and business leaders, Alexander Bisignano, the Co-Founder and CEO of Phosphorous and Mark McDonough, Chief Business Officer at Phosphorous. In this two-part interview we discuss a variety of complex and insightful precision medicine topics which include: What is Next Generation Sequencing (NGS) and Why Is It Important? What is the clinical value of the Phosphorus One test to the buyer? Why is this an ideal test for Executive Health and/or a Concierge Medicine Physician to order? What does a sample report look like and what does it tell the patient and doctor? Is the content locked or is it periodically updated and upgraded? What is the cost of the test? Does insurance cover the test? How is the test different than other tests we order (23&Me, OneOme, Healthy screen)? Is there a particular patient demographic that the test is ideally suited for? What is the logistical process? How do I order and get this done? How does a patient use the information garnered from the test in a month? 6 months? A year? About Phosphorus Phosphorus's mission is to improve healthcare for everyone by better understanding and harnessing the power of the human genome. Having built the most comprehensive, high-quality, and cost-effective portfolio of genetic tests, Phosphorus is able to increase access and quality of care in the burgeoning field of genomics. Phosphorus currently provides panel-based, constitutional genetic testing in the specialty areas of Fertility, Cardiology, Lipidology, Oncology, Pharmacology, Ophthalmology, Neurology, and Pediatric/Metabolic disorders, while also offering the most advanced Whole Exome Sequencing test covering the most recent understanding of the human genome. Additionally, Phosphorus provides the ElementsTM software platform to enable any laboratory to easily deploy any of the Phosphorus genetic tests on-premise as a local solution. For more information, please visit our website at phosphorus.com. Links and Resources Discussed In This Interview www.ConciergeMedicineFORUM.com www.ConciergeMedicineTODAY.com To view a sample report from PhosphorusONE -- https://www.phosphorus.com/s/Phosphorus-ONE.pdf To learn more about the genetics of the PhosphorusONE test -- https://www.phosphorus.com/the-genetics To order the PhosphorusONE test -- https://www.phosphorus.com/get-started Click Here for an overview of the PhosphorusONE Test compared to others on the market: https://conciergemedicinenews.files.wordpress.com/2019/03/phosphorusone-p1-competitive-overview-web-1.pdf

By Michael Tetreault, Host of The DocPreneur Podcast and Editor-In-Chief of Concierge Medicine Today and The DPC Journal Today we catch up with two precision medicine industry insiders and business leaders, Alexander Bisignano, the Co-Founder and CEO of Phosphorous and Mark McDonough, Chief Business Officer at Phosphorous. In this two-part interview we discuss a variety of complex and insightful precision medicine topics which include: What is Next Generation Sequencing (NGS) and Why Is It Important? What is the clinical value of the Phosphorus One test to the buyer? Why is this an ideal test for Executive Health and/or a Concierge Medicine Physician to order? What does a sample report look like and what does it tell the patient and doctor? Is the content locked or is it periodically updated and upgraded? What is the cost of the test? Does insurance cover the test? How is the test different than other tests we order (23&Me, OneOme, Healthy screen)? Is there a particular patient demographic that the test is ideally suited for? What is the logistical process? How do I order and get this done? How does a patient use the information garnered from the test in a month? 6 months? A year? About Phosphorus Phosphorus's mission is to improve healthcare for everyone by better understanding and harnessing the power of the human genome. Having built the most comprehensive, high-quality, and cost-effective portfolio of genetic tests, Phosphorus is able to increase access and quality of care in the burgeoning field of genomics. Phosphorus currently provides panel-based, constitutional genetic testing in the specialty areas of Fertility, Cardiology, Lipidology, Oncology, Pharmacology, Ophthalmology, Neurology, and Pediatric/Metabolic disorders, while also offering the most advanced Whole Exome Sequencing test covering the most recent understanding of the human genome. Additionally, Phosphorus provides the ElementsTM software platform to enable any laboratory to easily deploy any of the Phosphorus genetic tests on-premise as a local solution. For more information, please visit our website at phosphorus.com. Links and Resources Discussed In This Interview www.ConciergeMedicineFORUM.com www.ConciergeMedicineTODAY.com To view a sample report from PhosphorusONE -- https://www.phosphorus.com/s/Phosphorus-ONE.pdf To learn more about the genetics of the PhosphorusONE test -- https://www.phosphorus.com/the-genetics To order the PhosphorusONE test -- https://www.phosphorus.com/get-started Click Here for an overview of the PhosphorusONE Test compared to others on the market: https://conciergemedicinenews.files.wordpress.com/2019/03/phosphorusone-p1-competitive-overview-web-1.pdf

Effie and her husband’s initial concerns about their son Ford were brushed aside. But by the time Ford was 3 months old, he was failing to thrive. Soon, Effie was initiated into the world of special needs and the diagnostic odyssey. When Ford was 16 months old, thanks to Whole Exome Sequencing, he was finally diagnosed with CTNNB1 Syndrome, a rare genetic condition caused by a de novo mutation in the CTNNB1 gene. Today, Ford is nearly 2 ½ years old. Ford’s diagnosis has allowed Effie to connect with other parents of children with CTNNB1 Syndrome. Together, they have also started an organization to raise awareness for CTNNB1 Syndrome and to support and connect with other affected families. Story Reference Points: What is CTNNB1 Syndrome? @ 1:32 Effie’s path to a diagnosis for her son Ford @ 4:54 Effie’s experience with Genetics WES (Whole Exome Sequencing) for Ford @ 11:54 A genetic diagnosis opens up a network of CTNNB1 parents @ 17:22 Being a parent of a child with special needs @ 21:20 A second pregnancy, self-advocacy, and a sibling for Ford @ 28:24 Social media and other helpful resources @ 32:12 The challenge of finding all the right resources @ 37:10 The many unknowns of rare disease @ 41:03 Effie’s advice to other parents in similar situations @ 44:42 Links and Resources Find Effie on Twitter: @ArareCollection CTNNB1 Syndrome Awareness Worldwide Unique Rare Disease Foundation Kindering 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 now 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. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Dr. Neeta Vora of University of North Carolina Chapel Hill spoke to CHI to discuss new opportunities and challenges in fetal whole exome sequencing for prenatal diagnosis. She discusses technical challenges, issues surrounding patient counseling, the potential for performing exome sequencing on noninvasively obtained samples, and her current research. Dr. Vora is speaking at the Advances in Prenatal Molecular Diagnostics conference, taking place November 28-29, 2017 in Cambridge, MA. For details, visit: http://www.Healthtech.com/Prenatal-Diagnostics/

Dr Stock talks to ecancertv at ASH 2015 about the results of a study that looked for genes that may be involved in the development of chronic immune thrombocytopenia (ITP) in children using whole exome sequencing. Historically, chronic ITP has not been thought of as a genetic or inherited disease but the study’s findings, presented by Dr Jenny M. Despotovic - Texas Children’s Cancer and Hematology Centers, Houston, USA, showed that genetic anomalies can be found in children with the disorder. These anomalies included changes in the gene encoding interferon-alpha 17, which is involved in the activation of regulatory T cells and TGF-β signalling. The hope is that the findings will help researchers understand ITP biology better to enable the identification and stratification of patients and improve treatment by avoiding unnecessary toxicity.

Dr Despotovic presents, at a press conference at ASH 2015, results of a study looking at genes influencing the development and severity of chronic ITP identified through whole exome sequencing.

August 2017 See acast.com/privacy for privacy and opt-out information.

May 2017 See acast.com/privacy for privacy and opt-out information.

In this podcast, Mikko Muona, Genetic Informatics Scientist, and Samuel Myllykangas, CTO, are discussing why WES is instrumental tool for determining genetic underpinnings of inherited disorders, how WES can be applied to solve clinical cases with complex genetic backgrounds and what WES solutions Blueprint Genetics is offering for diagnostics of patients with inherited disorders.

Interview with Bridget A. Fernandez, MD, author of Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Originally Published December 5, 2014: Travis and Amol want you to recognize that: 1. Recognize whole exome sequencing is an important new method of identifying genetic mutations associated with disease. 2. Understand that the 4-year follow-up of the PROTECT AF study showed that left atrial appendage closure devices may be superior to warfarin in preventing strokes in patients ...The post Repeat: Value Judgments – Whole exome sequencing and left atrial appendage closure devices appeared first on Healthy Debate.

Originally Published December 5, 2014: Travis and Amol want you to recognize that: 1. Recognize whole exome sequencing is an important new method of identifying genetic mutations associated with disease. 2. Understand that the 4-year follow-up of the PROTECT AF study showed that left atrial appendage closure devices may be superior to warfarin in preventing strokes in patients ... The post Repeat: Value Judgments – Whole exome sequencing and left atrial appendage closure devices appeared first on Healthy Debate.

Whole Exome Sequencing and the Clinical Impact of Sequencing Techniques by Dr. Daniel MacArthur, interviewed by Dr. Ted Burns.

Whole Exome Sequencing and the Clinical Impact of Sequencing Techniques by Dr. Daniel MacArthur, interviewed by Dr. Ted Burns.

Whole Exome Sequencing by Dr. Daniel MacArthur

Ever since Dustin Bennett was a toddler, he had trouble keeping his balance, and as he grew older, he experienced rigid, jerking spasms that would appear and disappear. He also developed learning disabilities. Linda Bennett, who is Dustin’s adoptive mother, took him to several doctors to try to find the cause of his movement problems. But after years of tests, medications, and hospital stays, there was no clear diagnosis. Then a physician suggested that Dustin, now 23, visit the Mayo Clinic’s campus in Jacksonville, Florida. There, specialists, including Dr. Zignew Zolek, recommended that Dustin undergo whole exome sequencing, using Dustin’s blood samples as well as his biological parents and sister. The testing lead to a diagnosis—episodic ataxia type 1, a rare condition. Dustin’s case was recently profiled in the Mayo Clinic Proceedings in a paper authored by Dr. Zolek. In this CAPcast, Linda discusses her experience with this genome sequencing, from a caregiver’s perspective, and the impact that the test results have had on Dustin’s life as well as on Linda and the rest of Dustin’s family.

This week, Travis and Amol want you to recognize that: 1. Recognize whole exome sequencing is an important new method of identifying genetic mutations associated with disease. 2. Understand that the 4-year follow-up of the PROTECT AF study showed that left atrial appendage closure devices may be superior to warfarin in preventing strokes in patients with atrial ... The post Value Judgments: Whole exome sequencing and left atrial appendage closure devices appeared first on Healthy Debate.

This week, Travis and Amol want you to recognize that: 1. Recognize whole exome sequencing is an important new method of identifying genetic mutations associated with disease. 2. Understand that the 4-year follow-up of the PROTECT AF study showed that left atrial appendage closure devices may be superior to warfarin in preventing strokes in patients with atrial ...The post Value Judgments: Whole exome sequencing and left atrial appendage closure devices appeared first on Healthy Debate.