DNA Today: A Genetics Podcast

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters? In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time. Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition. Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury. This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope. On This Episode, We Discuss:   Understanding Hunter Syndrome (MPS II) What it means to have a metabolic disorder and how MPS II affects the body Common symptoms and how the disease progresses over time The variability in presentation and severity among individuals A Family’s Journey Through Hunter Syndrome Kristin’s experiences growing up with a brother affected by Hunter syndrome Losing Zachary and later receiving the diagnosis for her son, Charlie How these experiences shaped her perspective as both a parent and an advocate Project Alive: Mission, Growth & Impact The origins and mission of Project Alive Key initiatives supporting research, families, and advocacy How the organization balances funding science, supporting families, and influencing policy Gene Therapy & the RGX-121 Delay Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families The emotional and practical impact of regulatory delays in ultra-rare diseases What changes could help expedite review processes for rare disease therapies Advocacy, Equity & Access How Project Alive amplifies the voices of a small but urgent patient community Strategies for engaging policymakers and industry partners Lessons the broader rare disease field can learn from this advocacy model Looking Ahead & How You Can Help What listeners can do to support Project Alive Opportunities for advocacy, awareness-building, and community engagement Relevant Resources:  Project Alive MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT) FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692. The Precision Medicine Initiative launched by President Obama  It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future)  National Organization For Rare Disorders (NORD) EveryLife Foundation For Rare Diseases STAT News: 1 in 10 Americans have a rare disease, but few have treatments Cystic Fibrosis Foundation’s Venture Philanthropy Model Kim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673 Denali Therapeutics Drug Pipelines (including MPSII)  Researchers estimated that 42% of Americans over age 55 will eventually develop dementia.  NIH research (lead by Dr. Francis Collins) leads to first FDA-approved treatment for progeria   Relevant DNA Today Podcast Episode: #147 CF Series: Bijal Trivedi on "Breath From Salt" #149 CF Series: Gunnar Esiason on Patient Advocacy #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy 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 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, 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 [email protected]. 

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition. Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized. On This Episode We Discuss: Parenting a Child with Cockayne Syndrome: Lack of carrier screening during IVF. Genetic aspects and impact on DNA repair. Different types of Cockayne Syndrome and their symptoms. Tailored Care for Ronan: Importance of specific growth charts and dietary considerations. Role of a supportive community and foundation efforts. Overlap with Other Disorders: Similarities with other DNA repair disorders. Importance of awareness and advocacy. Support and Encouragement: Message to families and caregivers about community support. Emphasis on shared experiences and advocacy.   Relevant Resources:  Cockayne Syndrome Foundation TikTok: @HopeForCS Instagram: @HopeForCS Facebook  Cockayne Syndrome Page on MedlinePlus  Trichothiodystrophy (TTD) on MedlinePlus   Cockayne Syndrome: A Manual for Healthcare Providers Cockayne Syndrome: A Manual for Parents and Caregivers Growth Chart: Cockayne Syndrome Type 1 and Type 2 The National Initiative for Cockayne Syndrome (NICS)  Amy and Friends MRI Lego Set  Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum) Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329.   Relevant DNA Today Podcast Episode: #39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum) #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases   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 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, 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 [email protected]. 

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026.    The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper.    Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green.    In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts.  Top 2025 Papers With Genomic Medicine Advancements Gene Therapy  CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safe Utility of a high-activity variant in gene therapy for hemophilia B  Promising phase 2 trial of CRISPR-based therapy for hereditary angioedema Oral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy Sequencing Long-range genome sequencing enhances rare disease variant detection Long-read genome sequencing identifies diagnostic variants  Exome sequencing in critical illness is useful in adults as well as children  Other Utility of pharmacogenomics in chemotherapy for GI cancers  Polygenic risk score disclosure reduces adverse cardiovascular events  Preimplantation genetic testing reduces risk of mtDNA diseases  The Guests:    Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine.   Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research.   Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics.   Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009. 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. Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “Charting a course for genomic medicine from base pairs to bedside” (Nature 470:204-213, 2011); the second yielded the 2020 paper ”Strategic vision for improving human health at The Forefront of Genomics” (Nature 586:683-692, 2020).   With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program.    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.    While directing an independent research program for just over two decades, Dr. Green was at the forefront of efforts to map, sequence and understand mammalian genomes. His work included significant, start-to-finish involvement in the Human Genome Project. These efforts eventually blossomed into a highly productive program in comparative genomics that provided important insights about genome structure, function and evolution. His laboratory also pursued human genetics studies and identified and characterized several human disease genes, including those implicated in certain forms of hereditary deafness, vascular disease and peripheral neuropathy. Dr. Green has received countless awards, most recently the 2025 ASHG Leadership Award where he received a much deserved standing ovation.  Quick Fact Check:  Kira estimated there were 30 or 40 genes in the mitochondria, she was in the ballpark, there are 37 genes.    Additional Papers Referenced:  (In order of appearance)    Hobbs HH, Cohen JC, Horton JD. PCSK9: From Nature's Loss to Patient's Gain. Circulation. 2024 Jan 16;149(3):171-173. doi: 10.1161/CIRCULATIONAHA.123.064498. Epub 2024 Jan 16. PMID: 38227713; PMCID: PMC10874118.   Musunuru K, Urnov F. Moving Therapeutic Genome Editing into Global Clinical Trials and Medicine. CRISPR J. 2025 Aug;8(4):228-231. doi: 10.1089/crispr.2025.0049. Epub 2025 May 22. PMID: 40397097.   Gurevitz C, Bajaj A, Khera AV, Do R, Schunkert H, Musunuru K, Rosenson RS. Gene therapy and genome editing for lipoprotein disorders. Eur Heart J. 2025 Sep 15;46(35):3420-3433. doi: 10.1093/eurheartj/ehaf411. PMID: 40600248; PMCID: PMC12448413.   Logsdon, G.A., Ebert, P., Audano, P.A. et al. Complex genetic variation in nearly complete human genomes. Nature 644, 430–441 (2025). https://doi.org/10.1038/s41586-025-09140-6   Visscher, P.M., Gyngell, C., Yengo, L. et al. Heritable polygenic editing: the next frontier in genomic medicine?. Nature 637, 637–645 (2025). https://doi.org/10.1038/s41586-024-08300-4   Lapinska S, Pimplaskar A, Shi Z, Ding Y, Frydman-Gani C, Hou K, Venkateswaran V, Boulier K, Olde Loohuis LM, Pasaniuc B. Exploring depression treatment response by using polygenic risk scoring across diverse populations. Am J Hum Genet. 2025 Aug 7;112(8):1877-1891. doi: 10.1016/j.ajhg.2025.06.003. Epub 2025 Jun 27. PMID: 40580956; PMCID: PMC12362525.   Joon-Ho Yu, Katherine E. MacDuffie, Olivia Sommerland, Tesla Theoryn, Priyanka Murali, Kailyn Anderson, Megan Sikes, Lukas Kruidenier, Heidi I.S. Gildersleeve, Abbey Scott, Kati J. Buckingham, Kirsty McWalter, Paul Kruszka, Alexandra C. Keefe, Jessica X. Chong, David L. Veenstra, Katrina M. Dipple, Tara Wenger, Dan Doherty, Michael J. Bamshad, Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis, Human Genetics and Genomics Advances, Volume 6, Issue 4, 2025, 100464, ISSN 2666-2477,https://doi.org/10.1016/j.xhgg.2025.100464.   Yu JH, MacDuffie KE, Sommerland O, Theoryn T, Murali P, Anderson K, Sikes M, Kruidenier L, Gildersleeve HIS, Scott A, Buckingham KJ, McWalter K, Kruszka P, Keefe AC, Chong JX, Veenstra DL, Dipple KM, Wenger T, Doherty D, Bamshad MJ. Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis. HGG Adv. 2025 Oct 9;6(4):100464. doi: 10.1016/j.xhgg.2025.100464. Epub 2025 Jun 3. PMID: 40468597; PMCID: PMC12357158. Relevant Resources: “World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia” via CHOP “Is NIH cutting corners as it rushes to fill leadership positions?” via Science Insider   “The U.S. Is Funding Fewer Grants in Every Area of Science Medicine” via The New York Times American Society of Human Genetics Past President List Six Things to Know About ASHG’s Advocacy Work in 2025 Six Ways to be an ASHG Advocate “On the Hill and Working for You: Our Advocacy in Action” ASHG Webinar Mass General Brigham launches genetic test to predict risk across eight cardiovascular conditions via Broad Institute  Human Pangenome Project  “Stanford scientist (Dr. Euan Ashley) who broke genome sequencing record on what faster diagnoses mean for patients” (2023) via STAT News Broad Clinical Labs sets new GUINNESS WORLD RECORDS™ title for fastest DNA sequencing technique “All babies in England to get DNA test to assess risk of diseases within 10 years” via The Guardian  “Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes about the Sunshine Genetics Act  Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening (BEACONS) First U.S. National Genomic Newborn Screening Initiative Launched with $14.4 Million NIH Award Being an accidental pioneer in precision medicine | Matt Might | TEDxBirmingham   Relevant DNA Today Podcast Episode: #110 Gattaca, 22 Years Later #117 Dr. Janina Jeff on African Genomes #150 Euan Ashley and Stephen Quake on The Genome Odyssey #182 Eric Green on the Complete Human Genome Project #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium #214 Genetics Wrapped 2022 (with Dr. Eric Green) #216 African American Ancestry with Nicka Smith #221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels #260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green) #266 Genetics Wrapped 2023 (with Drs. Eric Green and Brendan Lee) #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Drs. Bruce Gelb and Eric Green) #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #358 AGBT Precision Health 2025 Meeting Recaps and Reflections (with Dr. Eric Green) #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding    Connect with us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our library of over 365 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 [email protected].

What would you do if you had millions of dollars in funding to transform the future of genetic counseling? Few in our field have successfully taken on that challenge, and Dr. Kathleen Valverde is one of them; she has secured two groundbreaking grants totaling almost $20 MILLION. We sat down with her in-person for this episode to hear her advice on acquiring grant funding and the profound impact it can have on advancing our profession.    Episode Topics Discussed: Kathy's Motivation and Background Kathy's role as a program director and her journey in genetic counseling. The importance of scholarships and funding for diverse backgrounds. Grant Funding and Impact Details of the grants from the Warren Alpert Foundation. The impact of these grants on genetic counseling education and diversity. Challenges in Genetic Counseling Discussion on the barriers to funding and access in genetic counseling. Kathy's personal experiences and commitment to overcoming these challenges. Mentorship and Networking The role of mentorship and networking in Kathy's success. Advice on starting with small grants and building a track record. Programs Supported by Grants Overview of the Alliance for Genetic Counseling and Career Ladder Education Program. Benefits provided to students, including tuition, health insurance, and stipends. Educational Opportunities and Continuing Education The importance of continuing education for genetic counselors. Details of the Advanced Research Training Certificate Program. Long-term Effects and Measuring Success Metrics and outcomes of the grant programs. Success stories and the impact on students' careers. Advice for Aspiring Grant Recipients  Kathy's advice on grant writing and overcoming imposter syndrome. The importance of perseverance and community support. Future of Genetic Counseling Kathy's vision for the future of genetic counseling. The need for continued education and support in the field.   The Guest: Kathleen Valverde, PhD, MS, LCGC is an Assistant Professor at the University of Pennsylvania’s Perelman School of Medicine and one of the most influential leaders in genetic counseling education. She is the principal investigator of two major Warren Alpert Foundation grants — the Alliance for Genetic Counseling (AID-GC) and the Career Ladder Education Program for Genetic Counselors (CLEP-GC) — totaling nearly $20 million to expand diversity, access, and research training in the field.  Across her 40-year career, she has trained nearly 400 genetic counselors, served in key leadership roles for national organizations including ACGC, and helped establish genetic counseling licensure in Pennsylvania. A BRCA-positive family member herself, Dr. Valverde brings both professional expertise and lived experience to her mission of strengthening the genetic counseling workforce and advancing patient care.   Relevant Resources:  Grant Superhero: Kathleen Valverde, PhD, LCGC Dr. Kathleen Valverde’s PubMed Articles Warren Alpert Foundation The Warren Alpert Foundation Career Ladder Education Program - The Advanced Research Training Certificate Program for Genetic Counselors (or ART-GC) Alliance for Genetic Counseling Fellowship  Audrey Heimler Special Projects Award (AHSPA) Jane Engelberg Memorial Fellowship (JEMF) The Basser Center for BRCA PhenoTips Speaker Series Live Podcast Episode: Proving Profitability in Genomics with Dr. Eric Green, Brian Reys, Marianne Olson, and Dr. Colleen Campbell    Relevant DNA Today Podcast Episodes: #25 Interview with Cancer Hereditary Experts (with Ellen Matloff)  #91 Ellen Matloff on Direct-To-Consumer Genetic Testing #136 Linda Robinson on the History of Genetic Counseling #234 Genetic Counseling History: 1st NSGC Conference  #235 Genetic Counseling History: ABGC Formation #244 Genetic Counseling History: The 70s #319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice (with Ellen Matloff)   Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our backlog of over 365 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 [email protected].

This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency.  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.   The Actors: Victoria Russo (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. Russo is a graduate of Northeastern University with a B.S. in Cell/Cellular and Molecular Biology. The premise of this mock case was Russo’s work as part of her internship with DNA Today.     Brittany Gancarz, MS, LCGC (she/her) practices as the lead prenatal genetic counselor at UConn Health, where she sees patients for a wide variety of pregnancy and preconception indications. She enjoys working as part of the healthcare team with many other skilled professionals in the Maternal Fetal Medicine department. Gancarz’s genetic counseling interests include prenatal diagnosis, cell-free DNA testing, carrier screening, ultrasound anomalies, preimplantation genetic diagnosis, and perinatal palliative care. Gancarz is on the Board of Directors for the Connecticut Genetic Counselor Association. She was awarded Bay Path University's Genetic Counseling Program’s Outstanding Clinical Supervisor of the Year. Brittany graduated from Colby College in 2010 with a Bachelor of Arts, majoring in Biology and minoring Creative Writing, and completed her master’s degree in Human Genetics at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College.    Mock Cardiac Genetic Counseling Session Outline Session Indication:  The patient is Kylie who is a 29 year old female who is experiencing her first pregnancy (G1P0). She is currently 13 weeks gestation and on her last ultrasound had an increased nuchal translucency measurement (3.7 mm), so her OB/GYN referred her to a genetic counselor.  Contracting  Brittany introduces herself as the genetic counselor and confirms the referral reason. The patient, Kylie, shares her understanding of the ultrasound findings and her lack of knowledge about genetic counseling. Explanation of Ultrasound Findings Discussion of the nuchal translucency (NT) measurement and its implications. Explanation of the potential genetic conditions associated with increased NT. Screening and Testing Options Overview of non-invasive prenatal testing (NIPT) and its capabilities. Discussion of diagnostic testing options: CVS and amniocentesis, including their procedures, risks, and timing. Family History and Genetic Concerns Exploration of family history for genetic conditions or concerns. Discussion of Factor V Leiden and its implications. Decision-Making and Next Steps Discussion of the patient's feelings and decision-making process regarding testing. Planning for screening tests and follow-up consultations. Conclusion Recap of the session and reassurance provided to the patient. Information on how to reach out with further questions and the plan for future appointments.   Relevant Reproductive Genetic DNA Today Episodes: Episode #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg Episode #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions   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 Episode #351: Cardio Session for Sudden Death of A Family Member    Disclaimer: 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.    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 [email protected].