DNA Today: A Genetics Podcast

Why do some medications work perfectly for one person but cause side effects—or fail completely—for another? The answer often lies in our genes. Pharmacogenomic (PGx) testing analyzes how our DNA affects our response to medications, helping doctors personalize treatment, reduce adverse reactions, and improve outcomes. Joining us today are Kristy Bouvier and Kathleen O’Brien from Quest Diagnostics, both of whom have decades of experience in the field. Kristy, a product manager, brings deep expertise in pharmaceuticals, while Kathleen, a board-certified genetic counselor, specializes in pharmacogenomics and hereditary oncology. In this episode, we’ll explore: ✅ How pharmacogenomics (PGx) works and what results the test provides ✅ How PGx testing prevents adverse drug reactions and improves treatment ✅ Real-world examples of PGx in action ✅ Challenges and future trends in integrating pharmacogenomics into healthcare ✅ What patients should know before getting tested The Panel:  Kristy Bouvier started her career with Quest Diagnostics in 2014 as a Neurology Account Executive for the Boston North territory.  In this role she has over 8 years of experience in laboratory sales specializing in neurology and genetics. Currently Kristy serves as a product manager for U.S. Specialty genetics where she is responsible for the Quest genetics portfolio in rare diseases.  She currently manages the biochemical genetics, cytogenetics, pharmacogenomics, and whole exome product lines.   Kathleen O’Brien, MS, DABMG, CGC is a board-certified genetic counselor who has been with Quest Diagnostics since 2005. She previously worked in clinical genetic counseling at Stony Brook University Hospital, Winthrop University Hospital (now NYU), and the NYS Institute for Basic Research. She earned her Master of Science in Genetic Counseling from the University of Colorado Health Sciences Center and has a special interest in hereditary oncology and pharmacogenomics, actively contributing to CPIC, NSGC, and the NSGC pharmacogenetics working group.   Resources:  Quest’s New Pharmacogenomics Panel GeneReviews ClinPGx Sequence2Script The PREPARE Study Table of Pharmacogenomic Biomarkers in Drug Labeling The Clinical Pharmacogenetics Implementation Consortium (CPIC®) DNA Today Episode #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) with Dr. Josiah Allen  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 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.   

This special episode of DNA Today was recorded live during Cocktails & Chromosomes, a celebration hosted by Team Telomere in New York City. Held at the stunning venue donated by Hogan Lovells (390 Madison Ave), the evening brought together the telomere biology disorder (TBD) community, including patients, families, clinicians, and researchers, for cocktails, connection, and powerful conversations. Two inspiring and informative guests join the episode:  Jena Robertson is the Program Administrator at Team Telomere, a patient advocate, and mother to Lorelei (“Rori”), a young girl living with a telomere biology disorder. Will Mannherz is a MD-PhD Harvard Medical School student and co-author of multiple research papers exploring TBDs and emerging therapeutic strategies. Together, Jena and Will help us understand both the personal and scientific sides of TBDs, from diagnosis to discovery. Topics Covered in This Episode Jena shares the emotional and complex diagnostic odyssey for her daughter Rori that included multiple misdiagnoses.  Rori’s final correct diagnosis of Dyskeratosis Congenita, which is a telomere biology disorder.  What it’s like parenting a child with a rare, poorly understood condition. The role of Team Telomere in providing support, resources, and hope to families worldwide. Will explains the biology of telomeres, what goes wrong in TBDs, and how thymidine may help elongate telomeres. Importance of family health history in understanding TBD disorders Insights from recent research and what early findings suggest about future treatment potential. How researchers and families are coming together to accelerate progress in this ultra-rare disease space. The upcoming clinical trial starting Fall 2025 at Boston Children’s Hospital Slight correction: In the interview Kira indicates that Team Telomere exclusively raised $1 million for the disorder, this is incorrect, there were other donors involved that all added up to $1 million including Boston’s Children’s Hospital and the Martin family. Memorable Quotes 🗨️ “We kept getting misdiagnoses... it was frustrating, but it also pushed us to keep looking until we found someone who understood telomere biology.” – Jena Robertson 🗨️ “It’s rare, but the impact is massive. Understanding telomere biology isn’t just about rare disorders—it’s about aging, cancer, and regenerative medicine.” – Will Mannherz, MD, PhD About Team Telomere Team Telomere is a New York–based nonprofit dedicated to supporting families impacted by telomere biology disorders. Through advocacy, community-building events like Cocktails & Chromosomes, and support of cutting-edge research, Team Telomere is lighting the path forward for TBD patients and their families. Learn more and get involved here.  Relevant Resources  DNA Today Episode #93 Team Telomere featuring Dr. Suneet Argwal, Katie Stevens, and Dr. Sharen Savage  A Race for Rori: The Work of Dr. Suneet Agarwal (Video played at event) Team Telomere Team Telomere’s Profile on Rori Agarwal Lab (Drs. Suneet Agarwal, Will Mannherz, et. al. TBD research)  Fall 2025 Clinical Trial: Nucleoside Therapy in Patients With Telomere Biology Disorders Dyskeratosis Congenita Information via Boston Children’s Hospital “Playing the long game: An exciting discovery in telomere disease” Boston Children’s Hospital Article Referenced Research Articles Check out these key papers Will Mannherz brought up during the episode related to telomere biology disorders and thymidine research. Many of which he is a co-author on! Domínguez-González, C., Madruga-Garrido, M., Mavillard, F., Garone, C., Aguirre-Rodríguez, F. J., Donati, M. A., Kleinsteuber, K., Martí, I., Martín-Hernández, E., Morealejo-Aycinena, J. P., Munell, F., Nascimento, A., Kalko, S. G., Sardina, M. D., Álvarez Del Vayo, C., Serrano, O., Long, Y., Tu, Y., Levin, B., Thompson, J. L. P., … Hirano, M. (2019). Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Annals of neurology, 86(2), 293–303. https://doi.org/10.1002/ana.25506 Mannherz, W., Agarwal, S. Thymidine nucleotide metabolism controls human telomere length. Nat Genet 55, 568–580 (2023). https://doi.org/10.1038/s41588-023-01339-5 Mannherz, W., Crompton, A., Lampl, N. et al. Metabolic constraint of human telomere length by nucleotide salvage efficiency. Nat Commun 16, 3000 (2025). https://doi.org/10.1038/s41467-025-58221-7 van der Vis, J. J., van der Smagt, J. J., Hennekam, F. A. M., Grutters, J. C., & van Moorsel, C. H. M. (2020). Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years. Chest, 158(2), 612–619. https://doi.org/10.1016/j.chest.2020.03.069 Vulliamy, T., Marrone, A., Szydlo, R. et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36, 447–449 (2004). https://doi.org/10.1038/ng1346 Connect With DNA Today 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 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. 

In this bold and wide-ranging conversation, Ian Wendt and Na-Ri Oh sit down with Andrew Craig—British investor, entrepreneur, and author—to explore how biotechnology is poised to shape the next century in the same way physics and computing shaped the last.   Craig draws on his decades of experience as a London and New York investment banker and as a former partner at WG Partners, where he advised more than 60 biotech companies and worked on marquee deals like the $7.6B sale of Nordia Bank and IPOs for brands like EasyJet and Burberry.   But his latest passion lies at the intersection of finance and innovation: making the case that our future is biotech, without a question mark.   This episode originally aired on RealPharma, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  All Access DNA Parálisis Cerebral Respuestas Two brand new shows debuting later this year  If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network.   Topics Covered   Why biology will define the 21st century: Andrew outlines the structural and technological reasons biotech is primed for exponential impact. CRISPR, AI, and the "exponential stack": How data storage, ML, and sequencing speed make today's breakthroughs possible. Fixing Europe's biotech lag: The cultural, capital, and regulatory headwinds slowing biotech innovation in the UK and EU. Rebuilding trust in pharma: Why good actors in drug development don’t get headlines—and how that hurts innovation. From Oxford Biomedica to DNA-based storage: Vivid examples of tech cost reductions and where we're headed next. The case for optimism: How to resist the press's negative bias and invest in human progress—literally. Resources & Links 📘 Andrew’s latest book: Our Future is Biotech on Amazon 📕 His first bestseller: How to Own the World on Amazon 🌐 Plain English Finance: www.plainenglishfinance.com 🔗 Connect with Andrew on LinkedIn: linkedin.com/in/andrewcraigpef Memorable Quotes “The last century was about physics and tech. The next one will be about biology—and by extension, biotech.” “If success begets success, then a crop of billion-dollar biotech companies in Europe can kickstart a self-sustaining cycle of innovation and investment.” “People forget that the smartphone they hold was a $100 million science project in the 1990s. Biotech is heading the same direction.” “We need to fight the narrative that pharma is inherently bad. There are good actors, and we must do a better job telling those stories.” Key Takeaway Biotech isn't just a sector—it's a structural solution to some of humanity’s greatest problems. From disease treatment to environmental restoration, the converging forces of AI, genetics, and biological engineering make this the most consequential time in science since the industrial revolution. 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 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. 

This is our fourth installment in our new Mock Genetic Counseling Session Series! In this episode, cardiac and pediatric genetic counselor Monisha Sebastin and student Avital Habshush perform a mock genetic counseling session. The session indication is a family history of sudden death.    This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   Survey for Monisha Sebastin's Global Genomics Services Directory We want to take this opportunity to announce a project of Monisha Sebastin’s aimed at improving global access to genetics and genomics services, and they need your help! Monisha Sebastin and her team have been working on the Global Directory of Genetics Professionals, a centralized platform to connect providers across the globe and streamline care for patients, especially those requiring cross-border genetics services. We’re reaching out to genetics providers like YOU to gather data and contact information for this invaluable resource. If you’re a genetics professional, please take a few moments to fill out the survey and ensure your inclusion in the directory. It took our host Kira Dineen 6 minutes to fill out the survey.  Your participation will help foster better connections in genomics care worldwide, benefiting both providers and patients alike. So please, take the 6-minute survey here.   The Actors:   Monisha Sebastin, MS, CGC, (she/her) is Senior Genetic Counselor, Pediatrics at the Children's Hospital at Montefiore Einstein. In addition to providing genetic counseling services in genetics clinics, Sebastin specializes in rare diseases, cardiovascular genetics and immunogenetics. In 2018, she earned her Master of Science from Sarah Lawrence College. Sebastian has won multiple prestigious awards including the National Society of Genetic Counselors’ (NSGC) 2024 Audrey Heimler Special Projects Award and the 2022 Heart of Genetic Counseling Award in 2022. We caught up with her right after her win on Episode #212 of DNA Today. Sebastin has been principal investigator and contributor to several research projects, and her work has been published in numerous peer-reviewed journals. Her leadership roles include serving as the 2024 President of the New York State (NYS) Genetics Task Force, co-chairing the International Special Interest Group (ISIG) at the NSGC, among many other roles.    Avital Habshush (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Habshuch is a graduate of Yeshiva University with a B.S. in Biology. She previously served as a genetic testing coordinate at Dana-Farber cancer Institute. The premise of this mock case was Habshush’s work as part of her internship with DNA Today.    Mock Cardiac Genetic Counseling Session Outline   Indication: 30y AFAB referred to genetics by cardiologist for suspected hereditary LQT syndrome. The patient recently fainted during an exercise class and has a family history of fainting and sudden cardiac death. See cardiology evaluation summary attached.    Patient’s Name: Lev Loveheart    Cardiac Evaluation: Resting ECG obtained today shows sinus bradycardia (59 bpm) with prolonged QTc of 495 ms (Bazett). T-wave morphology is broad-based without ischemic changes. Electrolytes and TSH are within normal limits. A 14-day ambulatory ECG monitor (Zio patch) is pending. Given the syncopal event, prolonged QTc, and strong family history—including emotion-triggered syncope—the presentation raises concern for congenital Long QT Syndrome, likely type 2 (LQT2).   Contracting  Introduction  Understanding the referral: personal history of fainting and family history of fainting and sudden cardiac death  Overview of the session Setting expectations and goals Questions      Medical History Fainted “only a handful of times” estimates about 4 times in her lifetime  First time fainting was in second grade due to startling     Family History  Brother: died at age 25 while running  Maternal: family history not significant  Paternal  Aunt 55 who faints a lot, very emotional Grandfather died at 45 due to heart attack  Grandmother died of old age 90  Ancestry: Ashkenazi Jewish and Yemen    Patient education  Overview of genetics Explaining Long QT Syndrome and how this might explain family history    Risk assessment  Explain how family history factors in to your calculation Which genes/syndrome would you test for?  Who is the best person to be tested?    Shared Decision Making  Explain the type of testing Explain the 3 types of results  Asking the patient if they are interested in testing?  GINA   Recommendations and Next Steps  Summarize session Offer resources  Relevant Cardiac Genetic DNA Today Episodes: Episode #315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally Episode #287 Familial Hypercholesterolemia with Jess and Julie Episode #283 Cardiogenetics with Blueprint Genetics Episode #76 Amy Sturm on Cardiac Genetic Counseling Cardiac Genetic Resources: National Society of Genetic Counselors’ Cardiovascular Genetics Special Interest Group New York City’s Office of the Chief Medical Examiner Molecular Genetics Laboratory Long QT Syndrome GeneReview’s Overview Sudden Arrhythmia Death Syndromes: Long QT Syndrome  Previous installments of our mock genetic counseling session series: Episode #311: Cancer Session for Breast and Prostate Cancer Family History Episode #317: Prenatal Session for Advanced Maternal Age Episode #331: Pediatric Session for Autism   Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory.    The next new episode of DNA Today will drop next Friday! New episodes are released every Friday. In the meantime, you can binge over 350 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, this includes some episodes recorded at NBC Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

THIS IS PART TWO, go back and listen to Episode #345 for the first half of this conversation.    The co-founders of The Science Underground rejoin our host Kira Dineen for the second part of their conversation continued from Episode #345. This episode was also recorded in-person and discusses the importance of effective science communication in genetics and approaches to achieve this.    The Science Underground was founded by former NIH’s National Human Genome Research Institute communicators Jenny Montooth, Sarah Alex Bates, and Britny Kish.    Topics Discussed: The Importance of Effective Science Communication The Role of Humor and Pop Culture in Science Creativity in Science Communication Navigating Timeliness vs. Depth in Storytelling The Y Chromosome: Myths and Misconceptions Communicating Complex Genetics to Diverse Audiences Celebrating Scientific Achievements: The T2T Project The Importance of Teamwork in Big Science Learning from Communication Failures Effective Strategies for Science Communication Advice for Scientists on Public Engagement Engagement and Community Building   The Panel:   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. Jenny Montooth is a science communications professional with a decade of experience making complex research engaging and accessible through innovative, culturally relevant strategies. She holds a master’s degree in public history from the University of Maryland, Baltimore County, where she developed a passion for translating scholarship for broader audiences. As co-founder of The Science Underground, LLC, and former Lead Public Affairs Specialist at the National Human Genome Research Institute, Jenny has led nationally recognized outreach campaigns—including on the first complete human genome sequence- and earned multiple awards for her dynamic use of social media to bring science into the public conversation.   Britny Kish is co-founder of The Science Underground, leading administrative and financial operations to support the development of culturally aware, results-driven communications strategies for scientific organizations. Most recently, she served as Deputy Director of Communications at the National Human Genome Research Institute (NHGRI), where she oversaw operations, budgeting, and campaign implementation, and played a key role in advancing equitable science communication and digital outreach. With over 15 years of experience in healthcare administration and communications, Britny specializes in program management, team leadership, and strategic communications, with additional expertise in virtual and exhibit event planning and management within the biomedical research space.   Resources/Links Mentioned: Kira Dineen’s Invited NIH Talk: “Mastering the Mic: Interview Strategies for Science Communicators” NHGRI’s Telomere-to-Telomere (T2T) NHGRI’s Pangenome Project NHGRI’s “How to Sequence a Human Genome in 7 'Easy' Steps!” Full Video TIME100: The Most Influential People of 2025 “The Complete Sequence of a Human Y Chromosome” Nature Paper 2023 DNA Today Referenced/Relevant Episodes:  #34 Henrietta Lacks Relatives Interviewed About Their Grandmother’s Cells’ Impact #182 Eric Green on the Complete Human Genome Project #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere (T2T) Consortium #100 Carl Zimmer on Human Heredity #214 2022 Genetics Wrapped with Eric Green #260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green)  #266 Genetics Wrapped 2023 with Dr. Eric Green #287 Familial Hypercholesterolemia with Jess and NIH’s Julie Sapp #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Dr. Eric Green) Most importantly check out The Science Underground! If you have genetics research or a project you are trying to inform people about Britny, Jenny and Alex are THE people to work with. They have already been helping us out at DNA Today and our new podcast network, Gene Pool Media. You can follow them on social media @TheScienceUnderground, including on Instagram, BluSky, and LinkedIn.  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 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. 

Bioethicist Dr. Madison Kilbride is interviewed by Sarah Lawrence College genetic counseling student Shaun Miller. This is part of Shaun’s internship with DNA Today.  At the University of Utah, Madison Kilbride is Assistant Professor of Philosophy specializing in bioethics. Her research focuses on ethical implications of genetic testing, particularly direct-to-consumer (DTC) genetic testing, genetic privacy, and family obligations around genetic information. Her work has been published in top journals, including Journal of American Medical Association, Journal of Clinical Oncology, Hastings Center Report, the American Journal of Bioethics, and the Journal of Medical Ethics. From the ethical limits of DTC genetic testing to the complexities of breaching confidentiality to warn at-risk relatives, in this episode Dr. Kilbride dives into some of the most pressing debates in modern medical ethics. In this conversation, we explore: Why Dr. Kilbride, a philosopher by training, was drawn to ethical issues in genetics How direct-to-consumer (DTC) genetic testing has evolved, and the “Goldilocks problem” of too-narrow vs. too-broad test panels What consumers misunderstand about the limitations of tests like 23andMe’s 3-variant BRCA screen Dr. Kilbride’s personal experience with a variant reclassification and the ethical duty of testing companies in communicating critical updates The “principle of rescue” as an ethical framework for when patients should share genetic results with family members Whether patients have a moral duty to get tested in the first place — particularly if family members might benefit Ethical implications of sharing information about non-Mendelian or multifactorial traits like autism or diabetes Pushback against the idea that genetic data is “inherently familial,” and why this philosophical distinction matters When (if ever) healthcare providers should breach patient confidentiality to warn relatives at risk of a genetic condition Ethical criteria for deciding whether breaching confidentiality is justified Why insurance companies should treat IVF with preimplantation genetic testing (PGT) as medically necessary How IVF-with-PGT compares to preventive care models like cancer screening Advice for genetic counselors navigating family disclosure and autonomy tensions Predictions for the future of genetic testing and what ethical frameworks need to evolve now Mentioned Articles by Dr. Kilbride: Dr. Kilbride shares insights from her recent peer-reviewed publications, highlighting the importance of balancing patient autonomy with broader familial and societal responsibilities in genetics. On the limits and need to improve DTC testing: "The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad" JAMA 2020 "Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests" JAMA Oncol 2018 "Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility" ASCO 2020 On the principle of rescue and duty to warn family members: "Genetic Privacy, Disease Prevention, and the Principle of Rescue" Hasting Cent Rep 2018 On breaching patient confidentiality under ethical conditions: "Breaching Confidentiality in Genetic and Non-Genetic Cases: Two Problematic Distinctions"  AJOB 2024 On expanding insurance coverage for IVF with PGT: “In vitro fertilisation with preimplantation genetic testing: the need for expanded insurance coverage" J Med Ethics 2020 Want to read even more from Dr. Kilbride? Search her full list of publications on PubMed here. 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 340 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 and 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.

Prenatal screening has transformed over the past decade, with Non-Invasive Prenatal Testing, or NIPT, becoming a go-to tool for early risk assessment. But even as adoption increases globally, we’re still facing real gaps, from limited condition coverage to a lack of support in interpreting results.   On this episode, I’m joined by Dr. Fred Ushakov, a renowned fetal medicine expert based in London. We are going to explore how NIPT is evolving and how a next-generation screening tool like Fulgent’s KNOVA is pushing the boundaries of early detection.    We’ll also dive into how structural scans and single-gene conditions factor into smarter screening strategies, and what patients and providers alike need to know when choosing the right test.    What We Cover in This Episode: The current state of NIPT access and adoption in the UK (public vs. private healthcare) Clinical blind spots in traditional NIPT; and how they impact patients How KNOVA is expanding prenatal screening with 56 genes, associated with 30+ monogenic conditions Why structural ultrasound and NIPT are complementary tools, not replacements How the SMART Test® NIPT algorithm enhances precision and timing of risk detection Early detectable conditions on KNOVA (e.g., Noonan syndrome, skeletal dysplasias) Conditions not typically visible on ultrasound (e.g., Rett syndrome, CHARGE) What providers and patients should know when considering an expanded NIPT Dr. Ushakov’s insights on the future of prenatal screening innovation We want to thank Fulgent for sponsoring this episode. All of our episodes, including this one, are for informational purposes only and do not constitute medical advice. Please consult a healthcare provider for personalized guidance. KNOVA is a screening test and not diagnostic. All results should be confirmed with diagnostic testing and interpreted with the support of a healthcare provider like a genetic counselor.   More on Our Guest: Dr. Fred Ushakov is the Founder and Managing Director of London Pregnancy Clinic (formerly City Ultrasound.) He has more than 35 years’ medical professional experience and was working in obstetrics and gynaecology, fetal medicine and ultrasound. In the UK Fred is working in Fetal Medicine and specialising in Fetal Anomalies. He also works at the UCLH Fetal Medicine Unit, having gained recognition as the most skilled ultrasound operator. Dr. Ushakov founded the London School of Ultrasound, where he has lectured doctors and sonographers from more than 100 countries. He founded the Early Fetal Scan Conference, a scientific event that seeks to raise awareness among professionals to recognise and manage different fetal abnormalities at earliest stages of gestation. Furthermore, Dr. Ushakov served as an Ambassador of the International Society of Ultrasound in Obstetrics and Gynaecology (ISUOG) in 2014-2020. He has a particular interest in the training and support of doctors and sonographers in other countries to help them to protect and preserve the health of mothers and unborn babies. Dr. Fred Ushakov is graciously donating his time to be a guest on the show to share his authentic experience with KNOVA and is not a paid consultant by Fulgent.    Relevant or Referenced Links: Dr. Fred Ushakov’s London Pregnancy Clinic  Fulgent’s KNOVA NIPT The SMART Test® NIPT  DNA Today Episode #317 Prenatal Mock Genetic Counseling Session   Get ready, genetic nerds—another brand-new episode of DNA Today drops on Friday! You can always count on us to deliver fresh content every Friday.    While you wait, why not dive into our library of over 340 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 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. 

To celebrate the end of Pride month, we are sharing this episode of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen.  The current rise in structural hostility towards transgender and gender diverse individuals highlights the importance of appropriate and affirming care for this medically marginalized community. In cancer genetics, specific factors such as medical transition and psychosocial impacts alter the approach to, and requirements of, genetic counseling for trans patients. To support the unique needs of trans and gender diverse patients in hereditary cancer genetic counseling, this episode of the PhenoTips Speakers series features an international panel of cancer genetic counselors with advocacy and research specialties in inclusive genetic counseling practices for LGBTQ+ patients. The PhenoTips Speaker Series is one of many podcasts in our brand new science podcast network called Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Two brand new shows debuting later this year  If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network.   On This Episode We Discuss: Risk considerations for trans and gender diverse cancer genetic counseling patients Creating safe and inclusive environments in cancer genetic counseling Protecting patients during times of unprecedented legislation Resources and methods to support trans and gender diverse patients   The Panel:  Kimberly Zayhowski, MS, CGC (she/her), is a genetic counselor, researcher, and assistant professor at Boston University Chobanian & Avedisian School of Medicine. She earned her Master’s in Human Genetics and Genetic Counseling from Stanford University School of Medicine and was one of the inaugural research fellows in the GC-FIRST program at the University of Minnesota. Her research focuses on LGBTQIA+ care, and specifically, the intersection of gender-affirming care and cancer genetics, with an emphasis on community-engaged research to improve clinical practices. Kim was awarded the Jane Engelberg Memorial Fellowship for her work in this area. She also serves on the Editorial Board for the Journal of Genetic Counseling as a Deputy Editor and a Director of Diversity, Equity, and Inclusion Integration. In recognition of her contributions to the field, she received the AGCPD Outstanding Clinical Supervisor Award in 2021 and the NSGC Leader in Cultural Advocacy Award in 2022.   Josephine Giblin (she/her/hers) is an NHS genetic counsellor working in Bristol, in the South West of England with an interest in barriers that LGBTQIA+ patients face in accessing genetics care. In the last few years, she has been particularly focused on trans and gender diverse patients with inherited cancer predisposition, leading a project to better equip genetics services to meet the needs of these patients. Recently Josephine worked with the UK Cancer Genetics Group to develop the first UK recommendations for the management of trans and gender diverse patients with inherited cancer risks.   Diane Koeller (she/her/hers) is a senior genetic counselor in the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute in Boston, MA. She completed her MS in Genetic Counseling and MPH in Health Behavior and Health Education at the University of Michigan in Ann Arbor in 2016. She provides clinical genetic counseling for individuals and families with hereditary cancer risks. Diane collaborates on research studies in a variety of areas including hereditary lung cancer, LGBTQIA+ inclusive care, and genetic counseling and testing implementation in low resource settings. She is involved in education and advocacy focused on healthcare equity for transgender and gender diverse individuals. She is a co-founder and former co-chair of the Gender-Inclusive Subcommittee of the National Society of Genetic Counselors Cancer Special Interest Group.   Resources and further reading: Navigating sexual orientation and gender identity data privacy concerns in United States genetics practices NSGC Policy Statement: Distinguishing Sex and Gender to Reduce Harm TGD CanScreen Project Canadian Resource: Queering Cancer CoppaFeel: UK patient resource with gender based language selection PhenoTips for Cancer Genetics Tools: LGBTQIA+ inclusive tools for cancer genetics and genetic counseling Book a PhenoTips One-on-One Meeting   Relevant DNA Today Episodes: #190 PhenoTips: Gender Affirming Care in Genetic Counseling #212 NSGC Recap 2022 (Amplify Sprouted for Gender Inclusive Cancer Genetic Counseling) #213 Congenital Adrenal Hyperplasia and Gender with Sage Sargent #243 PhenoTips: Navigating Barriers in LGBTQIA+ Genetic Care #302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care #344 Trans and Gender Diverse Patients' Experiences with Reproductive Healthcare   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 340 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.

We’re kicking off Season 2 of #ThroughTheGenes with a powerful and personal episode in honor of World Sickle Cell Day, which was commemorated yesterday on June 19th.   This podcast isn’t just about science, it’s about storytelling through the lens of lived experience. Hosted by three uniquely different women who have experience with transformative therapies for sickle cell disease, this season celebrates the sisterhood they’ve built through vulnerability, advocacy, and the desire to push the conversation forward. If you’ve been following along, you’ll remember Episodes #288 and #289 of DNA Today, where our host Kira Dineen sat down with Victoria Gray, the first person treated with CRISPR for her Sickle Cell Disease symptoms. Her story is one of remarkable resilience and groundbreaking science. Then on Episode #305, she also spoke with the original co-hosts of #ThroughTheGenes, Wunmi Bakare and Dima Hendricks, two powerful patient advocates whose insight, honesty, and unwavering commitment have helped shape how we understand cell and gene-based therapies for sickle cell today. This Season 2 opener sets the tone for what’s ahead. It’s a raw and reflective conversation that unpacks the triumphs and trials of transformative care, while shining a light on the emotional weight of medical decision-making. Through three distinct journeys, we find one undeniable truth: the power of shared experience can create bonds that feel like family, and fuel advocacy that moves scientific storytelling forward.   We’re also thrilled to share that #ThroughTheGenes is part of our new science podcast network: Gene Pool Media! We're building a home for engaging, credible, and diverse science storytelling. Check out our growing lineup of shows: DNA Dialogues Demystifying Genetics RealPharma Beyond The Thesis with Papa PhD It Happened To Me All Access DNA PhenoTips Speaker Series ...and two brand-new shows launching later this year! If you host a science podcast and want to be part of a collaborative network that amplifies your voice, go to GenePoolMedia.com and click the “Apply” tab, or just shoot me an email at kira@genepoolmedia.com. We’d love to chat with you about what we’re building. In this season 2 premiere of #ThroughTheGenes, hosts Wunmi Bakare, Dima Hendricks, and Christelle Salomon engage in a heartfelt discussion about their personal journeys with sickle cell disease and the transformative therapies they have explored. They share their motivations for seeking experimental treatments, the emotional and physical challenges they faced, and the importance of mental health and self-care. The conversation highlights the resilience of sickle cell warriors and the impact of their experiences on their identities. The episode concludes with a light-hearted quickfire round, reinforcing the bond among the speakers and their commitment to patient advocacy.    Takeaways Conversation kicks off with an authentic conversation about cell and gene-based therapies.  Dima shares her journey with sickle cell and the challenges faced during her treatment. Christelle discusses her motivations for exploring gene therapy and the impact on her life. The importance of mental health and self-care is emphasized throughout the conversation. Each speaker shares their unique experiences with transformative therapies, highlighting both triumphs and trials. The discussion reveals the emotional and physical challenges faced during treatment processes. The concept of freedom is explored as a central theme in navigating life with sickle cell disease. The speakers reflect on their identities as sickle cell warriors and the ongoing journey of living with the condition. The conversation addresses misconceptions about gene therapy and the realities of patient experiences. The podcast concludes with a light-hearted quickfire round, reinforcing the bond among the speakers. Subscribe to #ThroughTheGenes on Apple, Spotify, YouTube or wherever you listen to podcasts. Next episode of season 2 drops on July 3rd, 2025.  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 300 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.

The co-founders of The Science Underground join our host Kira Dineen for an in-person episode to discuss the importance of effective science communication in genetics and approaches to achieve this.  The Science Underground was founded by former NIH’s National Human Genome Research Institute communicators Jenny Montooth, Sarah Alex Bates, and Britny Kish.    Topics Discussed: Strategies for making complex genetics concepts accessible to the public The role of humor, memes, and social media in building engagement and trust Challenges of communicating abstract genetic topics and foundational genomics knowledge Reflections on progress in public genomic literacy since the Human Genome Project Disparities in genetics understanding across different socioeconomic and educational backgrounds The critical role of storytelling in science communication Using creative media to preemptively address misconceptions Building public trust in genetics by acknowledging historical injustices and systemic biases Importance of transparency, community collaboration, and ethical considerations in genomic research Engaging underrepresented and Indigenous communities in genetic research conversations Evolving role of research participants: from subjects to true partners in science Cultural sensitivity around ancestral DNA and the emotional weight it carries The misconception that complex science can't be simplified for broader audiences Practical advice for scientists: use analogies, creativity, and empathy to communicate effectively   The Panel:   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.   Jenny Montooth is a science communications professional with a decade of experience making complex research engaging and accessible through innovative, culturally relevant strategies. She holds a master’s degree in public history from the University of Maryland, Baltimore County, where she developed a passion for translating scholarship for broader audiences. As co-founder of The Science Underground, LLC, and former Lead Public Affairs Specialist at the National Human Genome Research Institute, Jenny has led nationally recognized outreach campaigns—including on the first complete human genome sequence- and earned multiple awards for her dynamic use of social media to bring science into the public conversation.   Britny Kish is co-founder of The Science Underground, leading administrative and financial operations to support the development of culturally aware, results-driven communications strategies for scientific organizations. Most recently, she served as Deputy Director of Communications at the National Human Genome Research Institute (NHGRI), where she oversaw operations, budgeting, and campaign implementation, and played a key role in advancing equitable science communication and digital outreach. With over 15 years of experience in healthcare administration and communications, Britny specializes in program management, team leadership, and strategic communications, with additional expertise in virtual and exhibit event planning and management within the biomedical research space.   Resources/Links Mentioned: Kira Dineen’s Invited NIH Talk: “Mastering the Mic: Interview Strategies for Science Communicators” “Public Knowledge of and Attitudes Toward Genetics and Genetic Testing” in Genetic Testing and Molecular Biomarkers  Telomere-to-Telomere (T2T) The Star Wars meme that started it about clarifying T2T  NHGRI symposium confronts difficult pasts of eugenics and scientific racism Dorothy Roberts’ Books  Informing the Navajo Public about Genetic Research and Policy “Weaving the Strands of Life (Iiná Bitł’ool): History of Genetic Research Involving Navajo People” in Human Biology  NHGRI’s Human Genome Fact Sheet  “Haunting the Human Genome Project: A Question of Consent” in Undark Magazine “The Immortal Life of Henrietta Lacks” By Rebecca Skloot  The Tuskegee Syphilis Study   NIH’s Tribal Health Research Office  BRAT Summer Meme aka Bring RNA Attention Today   DNA Today Referenced/Relevant Episodes:  #34 Henrietta Lacks Relatives Interviewed About Their Grandmother’s Cells’ Impact #182 Eric Green on the Complete Human Genome Project #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere (T2T) Consortium #214 2022 Genetics Wrapped with Eric Green #260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green)  #266 Genetics Wrapped 2023 with Dr. Eric Green #287 Familial Hypercholesterolemia with Jess and NIH’s Julie Sapp #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Dr. Eric Green)   Most importantly check out The Science Underground! If you have genetics research or a project you are trying to inform people about Britny, Jenny and Alex are THE people to work with. They have already been helping us out at DNA Today and our new podcast network, Gene Pool Media.  Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 340 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 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.