DNA Today: A Genetics Podcast

Kira Dineen

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner*** Learn more (and stream all 350+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.

  1. HÁ 4 DIAS

    #365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science

    The 11th annual Raw Science Film Festival took place this past weekend in New York City. We were lucky enough to be invited and had the honor of interviewing Dr. Larry Corey in-person. He is a renowned expert in virology, immunology and vaccine development who was featured throughout the film “Ending HIV: The Journey to a Vaccine”. The film won the Jury Award for Best Professional Documentary Feature at the festival.    While at the festival our host/producer Kira Dineen accepted the Backstage Best Actor Award (Female) on Devin Sidell’s behalf. You may remember her from Episode #360 where we talked with her about her film “Love, Danielle” which is the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation.    The Guest:    Dr. Larry Corey is the former president and director of Fred Hutch Cancer Center. His research focuses on herpes viruses, HIV, the novel coronavirus and other viral infections, including those associated with cancer. For 25 years Dr. Corey has led the HIV Vaccine Trials Network (HVTN), the largest international research network focused on developing a safe and effective vaccine against HIV. In 2020 he was selected by Dr. Anthony Fauci to lead the CoVID Prevention Network to run the clinical trials for COVID-19 under Operation Warpspeed. The scientific work on HIV made it possible to achieve a COVID vaccine in record time. In turn, COVID vaccines gave us mRNA technologies and the ability to speed up vaccine development and save more lives.  “Ending HIV: The Journey to a Vaccine” Documentary:    This powerful and timely documentary masterfully chronicles one of the most significant scientific pursuits of our era, spanning decades of research and resilience.   Since the early 1980s, scientists, researchers, community organizers, faith leaders, and countless organizations have poured their lives into understanding and battling HIV — the most complicated virus medicine has ever faced.   When the HIV Vaccine Trials Network (HVTN) was formed in the 1990s, an unprecedented global collaboration took shape. But until now, the tireless work across countries, races, genders, and disciplines had never been fully narrated on screen.   On This Episode We Discuss: In this in-person conversation, Dr. Larry Corey discusses his extensive experience in vaccine development, particularly focusing on the challenges of creating an HIV vaccine compared to COVID-19. He highlights the genetic diversity of HIV, the evolution of vaccine strategies, and the importance of community engagement in research. Dr. Corey also emphasizes the impact of HIV research on broader scientific fields and addresses the ongoing issue of vaccine skepticism in public health.   HIV's genetic diversity complicates vaccine development significantly. Understanding immune evasion strategies is crucial for creating effective vaccines. The evolution of vaccine strategies has shifted focus from T cells to B cells. Infrastructure built for HIV research facilitated rapid COVID-19 vaccine development. Community engagement is essential for successful vaccine trials and public trust. HIV research has led to advancements in other areas of medicine and science. Continued funding for HIV research is critical for future breakthroughs. Vaccine skepticism poses a significant challenge to public health initiatives. Engaging with communities can help combat misinformation about vaccines. An HIV vaccine may be achievable within the next few years. Relevant Resources:  Watch the full documentary “Ending HIV: Journey to a Vaccine” on their website here Learn about the HIV Vaccine Trial Network here Learn more about the science behind HIV research here See the road of the HIV milestones here Find out if there's a study clinic near you here, their studies are conducted at over 40 research sites across the United States Find out more about volunteering for a study here Access information about The Fred Hutch Cancer Center here Check out the Raw Science Film Festival here Brand new paper published on October 25th (the day we recorded) that Dr. Corey referenced. Youyi Fong, Yunda Huang, Ying Huang, Wayne Woo, Alice McGarry, Germán Áñez, Lisa M Dunkle, Iksung Cho, Christopher R Houchens, Karen Martins, Lakshmi Jayashankar, Flora Castellino, Christos J Petropoulos, Andrew Leith, Deanne Haugaard, William Webb, Yiwen Lu, Chenchen Yu, Lindsay N Carpp, April K Randhawa, Michele P Andrasik, James G Kublin, Julia Hutter, Maryam Keshtkar-Jahromi, Tatiana H Beresnev, Carina A Rodriguez, Milagritos Tapia, Christine B Turley, Carmen D Zorrilla, Stuart H Cohen, Susan E Kline, Elizabeth Barranco, Lawrence Corey, Kathleen M Neuzil, Dean Follmann, Julie A Ake, Cynthia L Gay, Karen L Kotloff, Thomas Jones, Richard A Koup, Ruben O Donis, Peter B Gilbert, on behalf of the Immune Assays Team, the Coronavirus Vaccine Prevention Network (CoVPN)/2019nCoV-301 Principal Investigators and Study Team, and the United States Government (USG)/CoVPN Biostatistics Team, Analysis of Antibody Markers as Immune Correlates of Risk of Severe COVID-19 in the PREVENT-19 Efficacy Trial of the NVX-CoV2373 Recombinant Protein Vaccine, Clinical Infectious Diseases, 2025;, ciaf558, https://doi.org/10.1093/cid/ciaf558    Relevant DNA Today Podcast Episode: #67 Daniel DeFabio on Disorder: The Rare Disease Film Festival #110 Gattaca, 22 Years Later #151: Richard Michelmore and Brad Pollock on COVID-19 Variants #154 Kenneth Kovan & David Berd on Haptenized Vaccines #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #328 Breakthrough Biotech: CAR-Ts for Solid Tumors & Engineered Bacteria for Rare Diseases #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle” #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding  We will see many of you next week in Seattle for the National Society of Genetic Counselors (NSGC) annual conference. If you are attending and want to be featured on the show, meet us at the end of “Passport to Prizes” where we will record quick sound bites on what you learned at the conference to be included in our NSGC recap episode.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 360 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

    25min
  2. 24 DE OUT.

    #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel

    On DNA Today, we spend a lot of time talking about genetic testing in the U.S., but what does this look like in other parts of the world? Since it’s Breast Cancer Awareness Month, we’re shifting our focus to Italy to explore how breast cancer genetic testing is being implemented there. We’re joined by two expert guests: Dr. Beatrice Salvatori, is a Scientist and Project Manager at Negedia, where she leads oncology-related projects and develops new research initiatives. With a PhD in Genetics and Molecular Biology, her career has spanned bioinformatics, breast cancer research, and now applying cutting-edge sequencing to expand access to hereditary cancer testing in Italy. Dr. Javier Batista Perez is a DCS Specialist at MGI Tech. For those that don’t know, DCS stands for "DNA Sequencing", "Cell Omics", and "Spatial Omics". With expertise across biophysics, bioinformatics, and therapeutic design, Dr. Perez brings deep knowledge of how MGI’s sequencing technologies are being applied across Europe and how they’re shaping the future of precision medicine. Topics Covered in This Episode How lifestyle, environment, and genetics contribute to cancer risk Why breast cancer genetic testing is a major public health priority in Italy The five-gene panel (BRCA1, BRCA2, CHEK2, PALB2, ATM) designed for hereditary breast and ovarian cancer, and why these genes were chosen How mutations (pathogenic variants) in these genes contribute to cancer risk Why Negedia partnered with MGI Tech and what makes the technology innovative Sequencing exons and select non-coding regions for more complete genetic risk analysis How variant databases have expanded, improving interpretation and curation The importance of cost-effectiveness in scaling genetic testing in national healthcare systems Unique barriers Italian patients face compared to the U.S. in accessing genetic testing The role of general practitioners vs. specialists in referrals for genetic testing in Italy Looking ahead: Will Italy move toward population-wide BRCA screening? Should more genes be added to future panels (TP53, RAD51C/D)? How spatial transcriptomics and multi-omics may reshape hereditary cancer care Biggest opportunities and challenges for scaling genetic testing globally Resources:  Negedia MGI’s Sequencing Platforms    Relevant DNA Today Podcast Episodes: #25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst  #165 Sequencing for Cancer Risk with Sandra Balladares #159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings #211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents #309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship” #311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”   Fact Check: Kira was correct when she quoted 1 in 8 people assigned female at birth will develop breast cancer in their life, according to The National Breast Cancer Foundation Inc.    Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

    42min
  3. 18 DE OUT.

    #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding

    We just wrapped an incredible week at the American Society of Human Genetics (ASHG) 2025 Annual Meeting in the historic Boston, Massachusetts! This year’s gathering brought together thousands of geneticists, clinicians, and innovators to share discoveries that are reshaping the field.  In this episode of DNA Today, host Kira Dineen takes you inside the conference experience, from lively poster sessions and thought-provoking sessions to spontaneous hallway conversations that sparked new ideas. You’ll hear from researchers pushing the boundaries of genomic medicine, genetic counselors reflecting on the future of the profession, and industry leaders unveiling the latest breakthroughs in sequencing and data interpretation. The energy in Boston was electric, collaboration and networking were the keywords of the week, and optimism about the future of genetics filled every session. Whether you attended in person or are catching up from afar, this recap captures the highlights, trends, and takeaways that defined ASHG 2025.   Sessions Recapped & Conference Aspects Explored: Ivy Bethea’s presentation, “Comparing the Diagnostic Capability of Large Language Models and Clinical Geneticists,” was discussed. She was the first genetic counseling trainee to deliver a plenary talk at the conference. Ivy Bethea is a recent graduate of the The Columbia University Program in Genetic Counseling.    We also teamed up with Wiley Advanced Portfolio to co-host a breakfast where our host Kira Dineen moderated a panel exploring the publishing landscape in genetics. Highlights from this session were recapped and reflected upon.    The expert that holds the record for most guest appearances on DNA Today is Dr. Eric Green, who received the prestigious and well deserved ASHG 2025 Leadership Award. We reflect on his acceptance speech filled with wisdom for genetic experts to be leaders. We recognized the absence of many of his colleagues at the NIH as they were not permitted to travel to the conference during the US government shutdown and the impact it had at the conference overall. We also discussed how funding has drastically changed from the NIH and how that is affecting genetic research in the US.    Guests: Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement, work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English.   Science Communication Resources: The Science Underground, for all your science communication consultation needs “Public Knowledge of and Attitudes Toward Genetics and Genetic Testing” in Genetic Testing and Molecular Biomarkers  Telomere-to-Telomere (T2T) NHGRI symposium confronts difficult pasts of eugenics and scientific racism NHGRI’s Human Genome Fact Sheet  NIH’s Tribal Health Research Office  Publishing Resources:  Wiley Advanced Portfolio  Wiley’s Journal Finder Genetics and Genomics: Advanced Science Collection  Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections Wiley's AI guidelines for Authors What Makes a Successful Submission Wiley Blog Post Eligibility for access to Research4Life  Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering   Relevant DNA Today Podcast Episode: #182 Eric Green on the Complete Human Genome Project  #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere (T2T) Consortium #214 Genetics Wrapped 2022 #260 PhenoTips: Population Genomics in Clinical Practice #266 Genetics Wrapped 2023 #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #314 ASHG 2024 Recap #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors  #318 Genetics Wrapped 2024 #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice   Stay tuned for a future episode where Drs. Yuming Hu and Elizabeth Bhoj return to the show to share more insight into the science publishing world.    Also we hope to see you in Seattle for the next national genetics conference, National Society of Genetic Counselors which kicks off on November 6th with pre-conference workshops including one with our host Kira Dineen, “Think Big, Start Small: A Practical Guide to Entrepreneurship”.    Brush up on your French before next year’s ASHG conference, we are heading to Montréal, Canada in October 2026! Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 360 episodes? That’s right, we have enough episode for you to listen to one a day for a year, and still have more to go! Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

    28min
  4. 10 DE OUT.

    #362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests

    What if we could detect structural changes in DNA that traditional tests often miss? On this episode of DNA Today, we’re diving into optical genome mapping (OGM), a cutting-edge technology transforming how we detect genetic variants and structural abnormalities. We’ll explore what OGM is, how it compares to existing genetic tests, and what it means for patients and families worldwide.   Our guest is Dr. Nikhil Sahajpal, Assistant Director in the Cytogenetics and Molecular Laboratories at the Greenwood Genetic Center (GGC) in Greenwood, SC. He led the validation of OGM at GGC.    He earned his PhD in Pharmaceutical Sciences in India before completing postdoctoral training at Augusta University in Augusta, Georgia, where he focused on advancing molecular and cytogenetic methodologies for prenatal, pediatric, and oncology applications. During his time there, he also played a key role in establishing FDA/EUA-approved diagnostic testing and research for COVID-19.   Dr. Sahajpal began his Laboratory Genetics & Genomics fellowship at GGC in the summer of 2022. During his fellowship, he trained extensively in the implementation and interpretation of molecular and cytogenetic diagnostic tests and led the development and validation of a novel clinical test, optical genome mapping.   Now as an Assistant Director, Dr. Sahajpal continues his innovative work while advancing GGC’s mission of providing state-of-the-art diagnostic tools along with compassionate care for patients and families affected by genetic disorders.   In this conversation, we explore:   OGM basics – what it is, how it works, and why it matters Why Greenwood Genetic Center adopted OGM and Dr. Sahajpal’s role in leading the project How OGM compares to karyotyping, microarray, FISH, and NGS The resolution advantage of OGM and its impact on clinical care Early success stories where OGM provided answers missed by other methods Insights from GGC’s study on neural tube defects (NTDs), including the discovery of candidate genes (RMND5A, HNRNPC, FOXD4, and RBBP4) How OGM could help reduce the diagnostic odyssey for rare disease patients The future of OGM – will it replace traditional cytogenetic techniques or work alongside them?   Relevant Resources:    Greenwood Genetic Center’s Optical Genome Mapping – Complete and Targeted  Study Using OGM in Neural Tube Defects Reveals Previously Unreported Variants and Candidate Genes with Potential Links to the Devastating Birth Defect Sahajpal Completes Laboratory Fellowship at GGC and Joins Faculty Sahajpal NS, Mondal AK, Singh H, Vashisht A, Ananth S, Saul D, Hastie AR, Hilton B, DuPont BR, Savage NM, Kota V, Chaubey A, Cortes JE, Kolhe R. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. PMID: 37370824; PMCID: PMC10296552.   Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics #279 Reflecting on 50 Years of Greenwood Genetic Center #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey (discusses dual diagnoses)  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

    29min
  5. 3 DE OUT.

    #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice

    The third Connecticut Genetic Counselors' Association (CTGCA) Annual Educational Conference was held last Friday (September 25th, 2025) at the gorgeous Jackson Laboratory for Genomic Medicine in Farmington, Connecticut.    Our host Kira Dineen resides in Connecticut and has been lucky enough to present every year. This time moderating a panel about the economics of genetic counseling, which is now shared as this podcast episode.    This panel conversation explores the economics of genetic counseling, focusing on the current financial climate, the role of genetic counselors in healthcare, and the importance of adaptability and networking for career development. The discussion explores challenges faced by students and professionals in the field, the need for expanded roles, and the significance of engaging with industry and policy to secure the future of genetic counseling.   The Connecticut Genetic Counselors' Association (CTGCA) is a not-for-profit statewide genetic counselors' association with a mission to foster, support, and strengthen the community of genetic professionals, in the common pursuit of improving clinical genetics and genomics care, within the state of CT. If you are a genetic counselor who lives in Connecticut become a member for free here.    The Jackson Laboratory for Genomic Medicine focuses on research in human genomics, complementing their long history of mammalian genetics expertise. JAX Genomic Medicine, which opened in 2014 next to the UConn Health campus, facilitates clinical collaboration with Connecticut’s many universities and hospitals. Kira Dineen also attended the grand opening back in 2014 and recapped it on all the way back on Episode #6 of DNA Today.    The Panel:    Ellen Matloff, MS, CGC is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine. Ellen has authored more than 50 scientific publications in the field; is an established educator, lecturer, and media spokesperson; and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court in 2013. This decision led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. As genetic testing became more common and also more complex, she served as the senior author on several publications documenting national errors in the misinterpretation of genetic test results. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively.   Maria Gyure, MS, CGC currently serves as the Program Director for the University of Connecticut’s Genetic Counseling Professional Science Master’s Degree Program. Her passion for education in clinical genetics led her to design and lead two online graduate certificate programs for UConn. Her expertise in online learning has been recognized nationally and she continues to champion for the benefits of quality and accessible learning. An alumna, she attended UConn on a 4-year Academic Leadership Scholarship where earned a Bachelor of Science degree in Diagnostic Genetic Sciences and a minor in Molecular and Cell Biology. Maria subsequently matriculated into the Genetic Counseling Program at Virginia Commonwealth University in Richmond, VA, where she earned a Master’s of Science in Genetic Counseling and completed the VA Leadership Education in Neurodevelopmental Disabilities (Va-LEND) program. Maria served as a clinical genetic counselor and later combined genetic counseling with research and served as the research coordinator for multiple federally funded research grants on both family communication about cancer and interventions for young children at risk for emotional and behavioral disorders. Maria has several publications in her specialty in addition to invited presentations and service on graduate advisory committees. She maintains her clinical skills by counseling pediatric genetics patients at UConn Health and is a true voice for underserved populations.   Samantha Baxter, MS, CGC is the associate director, genetic and genomic data sharing, and a genetic counselor in the Program in Medical and Population Genetics Translational Genomics Group at the Broad Institute of MIT and Harvard. She is the operations manager and council member for gnomAD, she co-chairs the policy working group for the GREGoR Consortium, and she leads the TGG’s variant curation team. Baxter began her tenure at the Broad Institute in 2016 as a clinical project manager and genetic counselor. In 2018, she became a senior clinical genomics specialist and founded the Genetic Counselor Affinity Group. She also took an appointment as an adjunct associate professor at the MGH Institute of Health Professions in 2019. In 2020 she started her current position. She is an active member of the National Society of Genetic Counselors and has served on the board of directors. Prior to joining the Broad Institute, Baxter was director of VariantWire, a real-time genomic data-sharing network based on the GeneInsight platform that grew out of her previous work as an application specialist for the Partners Healthcare Business Development Team. In 2012 she was awarded the National Society of Genetic Counselors New Leader Award. Baxter obtained her M.S. in genetic counseling from the Boston University School of Medicine and holds a B.S. in behavioral neuroscience from Lehigh University. She is certified as a genetic counselor through the American Board of Genetic Counseling and is a licensed genetic counselor in the state of Massachusetts.   The Moderator   Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her), has over a decade of podcast experience fueled by a passion for science communication. She has hosted and/or produced 10+ podcasts, many of which are in her science podcast network: Gene Pool Media. In 2012, she launched her flagship show, DNA Today, which dives into the world of genetics through interviews about genetic technology, disorders, and ethics. “DNA Today” has won the Best 2020-2022 Science and Medicine People’s Choice Podcast Award. The show has surpassed 350 episodes supported by over 80 sponsors. Kira received her Bachelor’s of Science in Diagnostic Genetics from the University of Connecticut and earned her certification as a Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York. She is a licensed certified genetic counselor at a high risk prenatal private practice.  She was accepted into The Podcast Academy and previously served on NSGC’s Digital Ambassador program. Kira serves as an adjunct faculty member at Bay Path University teaching Ethics and Reproductive Genetics. She also serves on the Dean’s Advisory Committee at the University of Connecticut’s College of Agriculture, Health and Natural Resources.    Takeaways The financial climate in genomics is challenging for genetic counselors. Genetic counselors need to advocate for their value in healthcare. Understanding the economics of genetic counseling is essential for strategic career planning. Students should be aware of the rising costs of education and its impact on their careers. Adaptability is a crucial skill for success in genetic counseling. Networking can open doors to new opportunities in the field. There is a growing need for genetic counselors in various industries beyond healthcare. Engaging with policy and industry can help secure the future of genetic counseling. Future roles for genetic counselors may include positions in venture capital and private equity. It's important to follow personal passions and interests in career development. Relevant DNA Today Podcast Episodes #211 Jorge Contreras on The Genome Defense (Gene Patent Supreme Court Case) #91 Ellen Matloff on Direct-To-Consumer Genetic Testing #69 Jackson Lab's Forum on Healthcare Innovation #42 Women In Bioscience: Let There Be No Limit #25 Interview with Cancer Hereditary Experts #6 Jackson Laboratories for Genomic Medicine Opening   Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

    1h2min
  6. 26 DE SET.

    #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”

    What would you do if you learned your DNA carried a mutation that gave you up to an 85% lifetime risk of breast cancer? That’s the impossible decision at the heart of Love, Danielle, the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation.    In this episode, we are joined by Devin Sidell, the film’s co-writer, producer, and lead actress, who brings her own BRCA1 journey to the screen, and Amy Byer Shainman, the BRCA Responder, a patient advocate and producer of the film. Together, we explore the science of BRCA mutations, the personal impact of hereditary cancer, and how storytelling can transform the way we understand genetics and health.    Devin Sidell    A Los Angeles native, Devin Sidell graduated cum laude from Princeton University and then moved back to L.A. to pursue a career in film and television, appearing as Teen Lois on "Malcolm in the Middle" and recurring as Abigail Stevens on "The O.C." She won an L.A. Weekly Award for her performance in "Land of the Tigers" at Sacred Fools Theatre and was nominated for both LADCC and Ovation Awards for the musical "The Behavior of Broadus," co-produced by Center Theatre Group. Devin has appeared in shows at the Kirk Douglas Theatre as well as on The Broad Stage opposite Josh Gad and Bryce Dallas Howard.   In addition to appearances on "Ray Donovan" opposite Liev Schreiber, the viral singing criminals cold open on "Brooklyn Nine-Nine" (yes, that cold open!), "NCIS," Lena Waithe's "Twenties," and B.J. Novak's "The Premise," Devin appears in Rob Zombie's horror film "31" (Sundance Film Festival) and recurs as a sketch performer on "Jimmy Kimmel Live!" A carrier of the BRCA1 gene mutation with a family history of ovarian and breast cancers, Devin decided in 2017 to undergo both a preventative double mastectomy and a preventative hysterectomy/oophorectomy, earning her the label of "previvor." She is in post production on the dark comedy feature film "Love, Danielle" about her experience. She is a proud member of the Television Academy.   Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal.    Amy Byer-Shainman    Amy Byer Shainman, also known as BRCA Responder, is an advocate, author, and producer providing support and education surrounding BRCA and other hereditary cancer syndromes. Her goal is to educate, entertain, and empower others through creative writing and film. Her medical memoir Resurrection Lily has won 14 literary awards and was a 2020 book club selection of the National Library of Medicine. She has also been an Executive Producer for multiple documentaries including The Two Dollar Bill Documentary and Pink & Blue: Colors of Hereditary Cancer. She is a producer on the feature film Love, Danielle.   Breast cancer awareness month starts next week which is perfect timing for Love, Danielle’s streaming service debut on October 3rd, 2025 via Apple TV+!   Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal.  Topics Covered How Devin’s personal BRCA1 positive experience inspired Love, Danielle The role of advocacy and why Amy joined the project as a producer Breast, ovarian, prostate, and other cancer risks linked to BRCA1/2 mutations Emotional realities of risk-reducing surgery and family dynamics in hereditary cancer Fertility, family planning, and their intersection with BRCA decision-making Misconceptions about BRCA testing and hereditary cancer syndromes The power of storytelling in changing public understanding of genetics Community, support networks, and the importance of patient voices Reflections on the response from the BRCA and previvor community Resources & Links LoveDanielleFilm.com  Upcoming Film Screenings  CALIFORNIA (Los Angeles) - Awareness Film Festival - Saturday, October 25th @ 7pm at Illusion Magic Lounge in Santa Monica. MASSACHUSETTS (Boston) - American Society of Human Genetics Conference - Friday, October 17th @ 7pm at Alamo Drafthouse Cinema Boston Seaport CONNECTICUT - Mystic Film Festival - Friday, October 3rd @ 2:30pm at United Theatre.   BRCAresponder.com FindAGeneticCounselor.com  Check out all the shows and films Devin Sidell has been an actress, writer and/or producer in via IMDb including Parks and Recreation, NCIS, Jane The Virgin, The Last Of Us Video Game, The OC, Ray Donovan, and so many more. Check out the documentaries Amy Byer-Shainman has produced via IMDb including Pink & Blue: Colors of Hereditary Cancer, The Two Dollar Bill Documentary, etc.    Relevant DNA Today Podcast Episodes  #25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst  #165 Sequencing for Cancer Risk with Sandra Balladares #159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings #211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents #309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship” #311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.    All rights reserved to Corine Solberg/Getty Images for the image used as the episode tile.

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    #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains

    What’s the most common form of skeletal dysplasia? Achondroplasia, and that’s exactly what we’re exploring in this podcast episode of DNA Today.  Joining us is Dr. Janet Legare, a leading expert in pediatric genetics and skeletal disorders. She serves as the director of both the Midwest Regional Bone Dysplasia Clinic and the Neuromotor Development Clinic at UW Health Kids. With a long-standing research and clinical focus on achondroplasia, Dr. Legare is here to walk us through the condition’s genetic cause, clinical presentation, and the importance of a multidisciplinary care model. We also discuss non-invasive prenatal screening (NIPS), psychosocial support, and the community’s role through organizations like Little People of America.     Key Takeaways:  Achondroplasia is caused by a gain-of-function variant in the FGFR3 gene, which causes impairment of endochondral bone growth. 80% of cases occur de novo in families without a history of skeletal dysplasia. Multisystem complications beyond bone growth require coordinated care. NIPS may detect achondroplasia earlier than ultrasound in some cases. Tailored growth charts and tools like QoLISSY support tracking and quality of life. Psychosocial and community support is crucial, especially early in life. Misconceptions remain and genetic counseling plays a key role in correcting them.    Relevant Skeletal Dysplasia DNA Today Episodes:  #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer  #301 Dwarfism with Colleen Gioffreda  #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders)    Achondroplasia Resources:  Little People of America (LPA)  Dwarf Athletic Association of America (DAAA)  International Achondroplasia Forum  Achondroplasia GeneReviews  Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435.  Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010   Stay tuned... this episode is actually the first episode in a series about achondroplasia. In the next installment we will learn more about co-morbidities and multidisciplinary care. Then in the third episode will discuss currently available targeted therapy.   Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.   While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”  Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!   DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.   See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

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    #358 AGBT Precision Health 2025 Meeting Recaps and Reflections

    The AGBT Precision Health 2025 Meeting took place this week at the sunny and gorgeous Loews Coronado Bay Resort in the San Diego, California area.  This conference brings together leading genomics researchers, healthcare professionals, and healthcare industry stakeholders to usher in a new era of precision medicine. Precision Health remains at the forefront of cutting-edge technologies, real-world implementation, and groundbreaking research in genomic medicine. Since its launch in 2016, this meeting has showcased the most impactful discoveries and large-scale initiatives shaping the future of healthcare—from national genomics strategies and international biobank efforts to hospital-driven diagnostic innovation and reimbursement models. Building on AGBT’s legacy of spotlighting transformative technologies and fostering public-private collaboration, the Precision Health Meeting emphasizes advances in clinical diagnostics, therapeutic development, and our growing understanding of genotype-phenotype relationships.   Some of the biggest names in genomics presented and we caught up with a few of them to capture their insights on the show to share with all of you. The Guests   Dr. Eric Green is the former director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). 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). Throughout his career, he has authored and co-authored over 385 scientific publications. Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times!    Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics, where she leads their clinical strategy and ensures the highest standards in genetic testing for patients across all ages, especially children with rare, undiagnosed genetic disorders. She is also the Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. As a board-certified pediatrician and clinical geneticist, she has spent her career at the intersection of improving patient care, scientific innovation, and genomic medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Stay tuned for a future episode where we dive deeper about RNAseq and other multi-omic approaches with Dr. Eng.    Marina Sirota is currently a Professor and the Acting Director at the Bakar Computational Health Sciences Institute at UCSF. Prior to that she has worked as a Senior Research Scientist at Pfizer where she focused on developing Precision Medicine strategies in drug discovery. She completed her PhD in Biomedical Informatics at Stanford University. Dr. Sirota’s research experience in translational bioinformatics spans nearly 20 years during which she has co-authored over 170 scientific publications. Her research interests lie in developing computational integrative methods and applying these approaches in the context of disease diagnostics and therapeutics with a special focus on women’s health. The Sirota laboratory is funded by NIA, NLM, NIAMS, Pfizer, March of Dimes and the Burroughs Wellcome Fund. As a young leader in the field, she has been awarded the AMIA Young Investigator Award in 2017. She leads the UCSF March of Dimes Prematurity Research Center at UCSF as well as co-directs ENACT, a center to study precision medicine for endometriosis. Dr. Sirota also is the founding director of the AI4ALL program at UCSF, with the goal of introducing high school girls to applications of AI and machine learning in biomedicine.   Resources: The Advances in Genome Biology and Technology (AGBT) website AGBT Precision Health Conference website  Baylor Genetics website Baylor Genetics to Showcase RNA Sequencing Breakthroughs for Rare Disease Diagnosis at 2025 AGBT Precision Health Meeting The Bakar Computational Health Sciences Institute at UCSF Li, Y., et al. (2025). Cell-type-directed network-correcting combination therapy for Alzheimer’s disease. Cell. Advance online publication. https://doi.org/10.1016/j.cell.2025.06.035   Relevant DNA Today Episodes: #19 Obama’s Precision Medicine Initiative #29 Precision Medicine Initiative and 21st Century Cures Act #150 Euan Ashley and Stephen Quake on The Genome Odyssey #172 PhenoTips: Advances in Rare Disease Diagnosis #182 Eric Green on the Complete Human Genome Project  #260 PhenoTips: Population Genomics in Clinical Practice #214 Genetics Wrapped 2022 #236 Assessing for Alzheimer’s Disease with Quest Diagnostics #266 Genetics Wrapped 2023 #318 Genetics Wrapped 2024   Mark your calendar for the general AGBT conference in Orlando, FL from Feb 23rd to 26th, which I am hoping to attend. And September 2026 in Coronado, California for next year’s AGBT Precision Health conference.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

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Sobre

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner*** Learn more (and stream all 350+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.

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