DNA Today: A Genetics Podcast

Epizode

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  #412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer 18.09.2026 36min

  Prenatal cell-free DNA screening is designed to assess a pregnancy for chromosome conditions; but in rare cases, it can reveal something entirely unexpected about the pregnant patient’s own health. In this episode, Kira Dineen is joined in-person by Dr. Diana Bianchi to explore how unusual or non-reportable cfDNA screening results can sometimes be a signal of an undiagnosed maternal cancer. Dr. Bianchi shares findings from the NIH’s ongoing IDENTIFY study, which is investigating why these unexpected cfDNA patterns occur, how clinicians can distinguish potential malignancy from other explanations, and what should happen next when a prenatal screening result raises concern about maternal cancer. We recorded this episode in person at AGBT Precision Health, one of our favorite conferences of the year. The conference wrapped this past Wednesday and brought together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations. The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location. We already put it on our calendars!    In This Episode, We Discuss: What “non-reportable” or “uninterpretable” cfDNA results actually mean How unusual cfDNA results differ from typical test failures Determining whether an unexpected cfDNA signal originates from the fetus, placenta, or pregnant patient Maternal causes of discordant cfDNA results, including fibroids, clonal hematopoiesis, a demised twin, and malignancy Why tumors can release DNA into the bloodstream that is detected during prenatal screening Why Dr. Bianchi and her colleagues launched the prospective IDENTIFY study in 2019 What participants undergo when they travel to the NIH Clinical Center for evaluation Results from the first 107 IDENTIFY participants, including the 52 participants diagnosed with cancer Why lymphoma is frequently identified through these unusual cfDNA patterns Chromosomal patterns that are particularly suspicious for malignancy Why gains and losses involving three or more chromosomes can be an important warning sign Why symptoms, physical examinations, and routine bloodwork may not reliably identify patients with occult cancer The role of rapid whole-body MRI in evaluating patients for malignancy Approaches clinicians can consider when whole-body MRI is not readily available Diagnosing and treating cancer during pregnancy What researchers have learned from participants whose evaluation does not identify cancer How the IDENTIFY study has expanded since its original published cohort How laboratories should report cfDNA patterns that may suggest maternal malignancy The need for professional society guidelines for clinicians receiving these unusual results What genetic counselors, OB/GYNs, and maternal-fetal medicine specialists should do when they receive a concerning non-reportable NIPS result About Dr. Diana Bianchi Diana W. Bianchi, MD, is a physician-scientist and a pioneer in noninvasive prenatal genetic testing and fetal cell microchimerism research. She previously served as Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health and was a senior investigator in the Center for Precision Health Research at the National Human Genome Research Institute. Her research has helped define how prenatal cell-free DNA sequencing can unexpectedly identify genomic patterns associated with maternal malignancy. In 2019, Dr. Bianchi and colleagues launched the IDENTIFY Study — Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis — to investigate the biological causes of unusual or non-reportable prenatal cfDNA results and develop evidence-based approac
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  #411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome 11.09.2026 30min

  What happens during genetic counseling after someone develops colon cancer at a young age and their tumor testing raises concern for Lynch syndrome? This is the eighth installment in our Mock Genetic Counseling Session Series! In this episode, cancer genetic counselor Connor Linehan and genetic counseling student Edith Atwerebour perform a mock cancer genetic counseling session. Edith plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose tumor showed loss of the MSH2 and MSH6 proteins. Although this tumor result raises suspicion for Lynch syndrome, it does not confirm that Patricia has an inherited cancer predisposition. Through this simulated session, Connor explains the difference between tumor and germline testing, reviews the pattern of cancer in Patricia’s family, and discusses how genetic testing could inform her future medical care and clarify cancer risks for her relatives. Patricia is particularly concerned about her kids. The session demonstrates how genetic counselors address the emotional impact of a possible hereditary cancer condition while explaining why testing and cancer screening are generally not recommended for children when the associated risks begin in adulthood. Previous installments of this series have explored prenatal, pediatric, cardiovascular, cancer, and teratogen genetic counseling. We hope these sessions help prospective and current genetic counseling students, and the general public, better understand what happens during a genetic counseling appointment. The Actors Connor Linehan, MS, LCGC is a board-certified genetic counselor in Connecticut specializing in cancer. He helps patients and families understand inherited cancer risks, genetic testing options, and how test results may affect medical management and relatives. He is also a Clinical Instructor at a genetic counseling graduate program. Connor is the President of The Connecticut Genetic Counselor Association. (Fun fact, our host Kira Dineen designed this new website!)  Edith Atwerebour, MPH is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose abnormal tumor testing raises concern for Lynch syndrome. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today. Edith also appeared in the previous installment of this series, #406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin, in which she played Denise, a pregnant patient seeking information about several medication exposures. Mock Session Overview Establishing the purpose and structure of a cancer genetic counseling appointment Reviewing Patricia’s colon cancer diagnosis, treatment, and current health Addressing Patricia’s concerns about her children early in the session Constructing and evaluating a three-generation cancer family history Identifying features that raise concern for hereditary cancer, including colon cancer before age 50 and multiple Lynch-associated cancers Explaining how genes normally help protect the body from developing cancer Sporadic, familial, and hereditary explanations for cancer The function of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 How immunohistochemistry evaluates mismatch repair protein expression in a tumor Why loss of MSH2 and MSH6 raises concern for mutations (pathogenic variants) in cancer genes The difference between tumor testing and germline genetic testing Why abnormal tumor testing does not independently establish a Lynch syndrome diagnosis How genetic changes confined to a tumor differ from inherited germline variants Why Patricia is the most informative person in her family to test first The option of using a multigene hereditary cancer panel Possible genetic testing results: positive, negative, and a variant of uncertain significance What each po
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  #410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain? 04.09.2026 43min

  This episode drop from the PRETEND podcast series “The Gypsy Rose Obsession” features Kira Dineen explaining what Gypsy Rose Blanchard’s genetic test result may, and may not, mean. Gypsy Rose Blanchard’s medical history has been scrutinized for years. Throughout her childhood, her mother, Dee Dee Blanchard, presented her as having numerous serious medical conditions, resulting in medications, procedures, mobility aids, and countless medical appointments. In 2015, Dee Dee was murdered by Gypsy’s then-boyfriend in a crime Gypsy helped plan. The case has since inspired documentaries, television series, podcasts, and an enormous amount of online speculation. But one part of Gypsy’s medical history has received relatively little attention: a chromosomal microdeletion identified through genetic testing. In this special episode drop, we are sharing the fifth installment of “The Gypsy Rose Obsession,” an investigative series from the PRETEND podcast hosted by Javier Leiva. The first four episodes explore the online community that continues to investigate, debate, and develop competing theories about nearly every aspect of Gypsy’s life. We recommend listening to those episodes first for the full context behind the people, records, and claims discussed in this installment. Episode five turns its attention to Gypsy’s reported 1q21.1 microdeletion. DNA Today host and certified genetic counselor Kira Dineen joins Javier as a genetics expert to examine the available records and explain the complexities of interpreting this finding. Kira breaks down chromosomes using a genomic-library analogy, explains how a chromosomal “address” such as 1q21.1 is read, and puts the reported deletion size into perspective. She also compares a traditional karyotype with a chromosomal microarray and explains how a deletion can be too small to detect through one form of testing but identifiable through another. What can the microdeletion tell us about Gypsy’s health? Why might her earlier clinical notes and a later laboratory report describe the finding differently? Could the deletion explain claims involving paralysis, leukemia, or the need for a feeding tube? Most importantly, how do we distinguish a possible genetic association from evidence that a particular finding caused someone’s medical, psychiatric, or behavioral features? This episode discusses medical child abuse, violence, and murder. Please take care while listening. Episode Discussion Topics What genetic counselors do and how they help patients understand genetic testing Chromosomes, genes, and microdeletions explained through a genomic-library analogy How to interpret the chromosomal address “1q21.1” What it means to have a piece of chromosome 1 missing Putting the size of the deletion into perspective Why the size of a genetic change does not always predict its medical impact The wide spectrum associated with 1q21.1 microdeletions, ranging from no apparent features to developmental and congenital differences How two people with the same or similar deletion can be affected very differently Why identifying the deletion does not mean someone will develop every associated condition Possible developmental, neurological, physical, and behavioral features reported with 1q21.1 microdeletions The difference between a genetic risk factor and a diagnosis or prediction Whether paralysis, leukemia, or feeding-tube use are associated with this deletion Why a genetic finding should not automatically be used to explain every aspect of someone’s medical or behavioral history The limitations of interpreting genetic information without a complete medical evaluation and family history The information presented in this episode is intended for education and discussion and should not be considered individualized medical advice. Genetic test results should be interpreted by a qualified healthcare professional in the context of the individual’s complete medical and family history. Resources & Links Li
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  #409 How DNA Testing Exposed the Dark History of American Adoption 28.08.2026 43min

  What happens when stigma, secrecy, and institutional power separate a mother from her child, and prevent an adoptee from accessing his own identity and medical history for decades? This week, we are sharing an episode of DNA Clarity and Support, the newest podcast to join the Gene Pool Media network. Host and genetic counselor Brianne Kirkpatrick Williams speaks with New York Times bestselling author and journalist Gabrielle Glaser about her book, American Baby: A Mother, a Child, and the Shadow History of Adoption. American Baby follows Margaret Erle Katz, who became pregnant as a teenager in 1961, and the son she was pressured to relinquish for adoption. That child, later named David Rosenberg, grew up without access to his biological family or family medical history. Decades later, while experiencing serious health problems, David used direct-to-consumer DNA testing to identify his birth family and discovered that the story he had believed about his adoption was not true. Through David and Margaret’s experiences, Gabrielle exposes the coercion, secrecy, and stigma that shaped the postwar adoption industry, and explores why access to original birth records, genetic relatives, and family health history remains so important. On This Episode, We Discuss: How Gabrielle met David while reporting on his kidney transplant How DNA testing connected David with his biological family What David discovered about his birth parents’ efforts to keep him How sealed adoption records restrict access to identity and family medical history Stigma, coercion, and secrecy in postwar American adoption Unethical research conducted on infants awaiting adoption The emotional complexity of unexpected biological connections and family reunions Privacy concerns surrounding commercial DNA databases Support resources for adoptees and others navigating DNA discoveries Margaret’s journey from decades of secrecy to adoptee-rights advocacy About Gabrielle Glaser Gabrielle Glaser is a New York Times bestselling author and journalist whose work on mental health, medicine, addiction, and culture has appeared in The New York Times Magazine, The New York Times, and many other publications. Her fourth book, American Baby: A Mother, a Child, and the Shadow History of Adoption, examines the history of adoption in post–World War II America through the story of one family separated by the country’s secretive and coercive adoption system. Learn more about Gabrielle and her work on her website. About Brianne Kirkpatrick Williams Brianne Kirkpatrick Williams is a licensed and certified genetic counselor, genealogist, author, and the founder of Watershed DNA. She provides support and guidance for people navigating DNA testing, family searches, adoption, donor conception, misattributed parentage, and unexpected biological relationships. Brianne is also the co-author, with Shannon Combs-Bennett, of The DNA Guide for Adoptees.  About DNA Clarity and Support DNA Clarity and Support explores the personal and familial impacts of DNA testing. Brianne speaks with authors, advocates, and leaders about family searches, unexpected discoveries, identity, medical history, and the resources available to people navigating the rapidly changing world of consumer DNA testing. DNA Clarity and Support is produced by Watershed DNA and is part of the Gene Pool Media podcast network. Subscribe wherever you listen to podcasts. Resources Gabrielle Glaser American Baby by Gabrielle Glaser  The DNA Guide for Adoptees by Brianne Kirkpatrick Williams and Shannon Combs-Bennett Watershed DNA Adoptee Rights Law Center Liberty Lost Podcast DNA Clarity and Support Podcast Current map of adoptee access to original birth certificates Editor’s note: This conversation was originally recorded in 2022. Laws governing adoptee access to original birth certificates have continued to change since then.  As of July 2026, according to the Adoptee Rights Law Center, adult adopted people in seventeen stat
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  #408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia 21.08.2026 37min

  Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later in life. With symptoms spanning multiple body systems and varying across the lifespan, how can clinicians recognize when these seemingly disconnected findings may point to HPP? In the first episode of our three-part series on hypophosphatasia, we are joined by genetic counselor Amy Patterson to explore the clinical spectrum and diagnosis of HPP. Amy explains what happens biologically in HPP, why traditional age-based classifications do not always capture its variability, and how the condition may present from the prenatal period through adulthood. We also discuss the importance of persistently low alkaline phosphatase (ALP), including why results must be interpreted using age- and sex-appropriate reference ranges. Amy reviews the additional laboratory findings, medical and dental histories, imaging, physical examination, and molecular testing that may contribute to a diagnosis. She also highlights common misdiagnoses and the clinical clues that should prompt healthcare providers to consider HPP. Episode Discussion Topics What hypophosphatasia is and how impaired mineralization affects the body The perinatal, infantile, childhood, adult, and odonto forms of HPP Prenatal and infantile presentations of severe HPP Clinical and dental signs in children Fractures, chronic pain, fatigue, weakness, and dental concerns in adults How manifestations may change throughout a person’s lifetime Variability among relatives with the same familial ALPL variants Common diagnostic delays and misdiagnoses Distinguishing HPP from other causes of rickets and skeletal abnormalities Differentiating HPP from osteoporosis, osteopenia, osteoarthritis, and fibromyalgia The importance of persistently low ALP and appropriate reference ranges Alternative explanations for a low ALP result The HPP International Working Group The roles of laboratory testing, radiographs, dental records, and medical history When molecular testing of the ALPL gene may be appropriate Whether HPP can be diagnosed without an identified pathogenic or likely pathogenic ALPL variant About the Guest Amy Patterson, MS, CGC, is a licensed, board-certified genetic counselor in the Department of Genetic Medicine at Johns Hopkins. She works with pediatric and adult patients in the general genetics clinic and the Greenberg Center for Skeletal Dysplasias, including individuals and families affected by hypophosphatasia. About the Series This episode is the first in a three-part educational series about hypophosphatasia. Stay tuned for the next installment . Across the series, we explore the clinical spectrum and diagnosis of HPP, its genetic basis and variable expression, and considerations for genetic counseling and management. This series is sponsored by Alexion. The views expressed by the host and guests are their own. Resources   Dahir KM, Nunes ME. Hypophosphatasia. GeneReviews®. Updated March 27, 2025. This comprehensive clinical overview covers the presentation, diagnosis, genetics, management, and genetic counseling considerations for HPP. Beck NM, Sagaser KG, Lawson CS, et al. Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. Molecular Genetics & Genomic Medicine. 2023;11(1):e2056. Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: Current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis International. 2024;35(3):431–438. Rush E, Brandi ML, Khan A, et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: Results from the HPP International Working Group. Osteoporosis International. 2024;35(1):1–10. Brandi ML, Khan AA, Rush ET, et al. The chal
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  #407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis 14.08.2026 39min

  What happens when the symptoms of a genetic condition look like the lasting effects of a professional football career? Former NFL defensive end and Kansas City Chiefs star Art Still spent decades attributing carpal tunnel syndrome, trigger finger, back problems, joint and tendon injuries, neuropathy, and other health concerns to football, aging, and ordinary wear and tear. Even when he developed atrial fibrillation, Art’s lifelong discipline and athlete mentality made him believe he could manage his health on his own. Art and his wife, Liz Still, join host Kira Dineen to share how those seemingly disconnected symptoms were eventually traced to hereditary transthyretin amyloidosis, also known as hereditary ATTR or hATTR amyloidosis. During evaluations through the NFL Player Care Foundation wellness program, Art’s healthcare providers looked beyond his individual symptoms and asked about his family health history. That conversation revealed a striking pattern: relatives with serious cardiac, neurologic, and mobility-related conditions, including Art’s older brother, who received a heart transplant, and his nephew, who lived with sickle cell disease and had previously tested positive for the same TTR variant. Genetic testing confirmed that Art carries the V122I variant, also called p.Val142Ile or V142I, in the TTR gene. This variant is found in approximately 3–4% of Black Americans, or about 1 in 25, although carrying it does not necessarily mean someone will develop amyloidosis. For Art and Liz, the diagnosis provided answers, but it also raised questions for their 11 children, 28th grandchild on the way, and extended family. They discuss navigating family conversations about inherited health risks, the value of genetic testing, Art’s evolving trust in healthcare, and why following a treatment plan matters. Through their nonprofit, Still 4 Life, Art and Liz now offer free community presentations focused on awareness, earlier detection, family health history, and self-advocacy. Their goal is to make complicated medical information easier to understand and reach people who may otherwise dismiss their symptoms or hesitate to seek care. Episode Discussion Topics How Art’s “no pain, no gain” athlete mentality shaped his response to symptoms Why professional athletes may normalize pain and avoid disclosing injuries The symptoms Art initially attributed to football, including carpal tunnel syndrome, trigger finger, back problems, neuropathy, joint and tendon injuries, and a torn biceps Why a torn biceps can be a potential warning sign of transthyretin amyloidosis Liz’s early belief that Art’s symptoms were natural consequences of his football career When Art’s cardiac symptoms caused Liz to realize something else might be happening Art’s history of atrial fibrillation and his initial resistance to medication His evaluations through the NFL Player Care Foundation wellness program The family health history questions that helped connect Art’s seemingly unrelated symptoms His brother’s heart transplant His nephew’s sickle cell disease, amyloidosis, and earlier genetic test result Why Art’s nephew was originally evaluated for Marfan syndrome How genetic testing identified Art’s V122I TTR variant The relief of finally understanding the cause of Art’s health problems How the diagnosis changed conversations with their 11 children and extended family Why family health history may be one of the most valuable legacies a family can preserve The difference between carrying a genetic variant and developing symptoms Why ancestry can help identify risk but should not be used to exclude someone from consideration Art’s mistrust of the medical and pharmaceutical industries, and how his perspective evolved What happened when Art reduced and stopped his heart medication without medical guidance Why finding a healthcare team that explains the purpose of treatment is so important How Liz advocated for Art when she realized he was not followin
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  #406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin 07.08.2026 30min

  This is our seventh installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor and teratogen information specialist Sharon Voyer Lavigne and student Edith Atwerebour perform a mock genetic counseling session. The session indication is medication exposures during pregnancy, including Ozempic®, metformin, Zoloft®, and Xanax®. 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.  The Actors: Edith Atwerebour is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Denise, a 34-year-old woman who is pregnant with her second child and seeking information about medication exposures during pregnancy. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today. Sharon Voyer Lavigne, MS, LGC, is a licensed genetic counselor, teratogen information specialist, and Coordinator of MotherToBaby Connecticut. She has worked with MotherToBaby Connecticut for more than 28 years and also serves as its Research Coordinator. Lavigne is a Clinical Instructor in the Division of Human Genetics within the Department of Genetics and Genome Sciences at UConn Health. She teaches and trains genetic counseling students, maternal-fetal medicine fellows, OB/GYN residents, and other healthcare professionals. Lavigne received her Bachelor of Science in Biology from Northeastern University and her Master of Science in Human Genetics/Genetic Counseling from Sarah Lawrence College. Through MotherToBaby, she helps patients and healthcare professionals understand the most current evidence about medications and other exposures during pregnancy and breastfeeding. Mock Session Overview: How genetic counselors establish the approximately 3% background risk for birth defects before discussing specific exposures Why the timing, dose, frequency, and duration of a medication exposure matter What is currently known, and still unknown, about semaglutide (Ozempic®/Wegovy®) exposure during early pregnancy Why controlling type 2 diabetes may be more important than the medication exposure itself The role of metformin, insulin, maternal-fetal medicine specialists, and diabetes educators during pregnancy What research suggests about sertraline (Zoloft®) use and the risk for structural birth defects How untreated anxiety and depression can also affect maternal and pregnancy health Possible newborn adaptation symptoms following exposure to certain psychiatric medications Why patients should consult their healthcare providers before reducing or discontinuing medication How therapy, family support, and postpartum planning can complement medication management The role of anatomy ultrasounds and fetal echocardiograms in pregnancy monitoring How MotherToBaby helps patients and healthcare providers navigate exposures during pregnancy and breastfeeding The central takeaway from the session is that Denise’s reported medication exposures are not expected to place the pregnancy at a significantly greater overall risk. Instead, the primary priorities are improving diabetes control, maintaining her mental health, and coordinating care among her obstetrician and other healthcare providers. MotherToBaby Resources: MotherToBaby provides free, evidence-based information about medications and other exposures during pregnancy and breastfeeding. Patients and healthcare providers can contact MotherToBaby by phone, text, email, or live chat. MotherToBaby Pregnancy and Breastfeeding Fact Sheets MotherToBaby: Semaglutide (GLP-1s like Ozempic®, Wegovy®, Rybelsus®) MotherToBaby: Metformin (Glucophage®, Glumetza® and Fortamet®)  M
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  #405 Why Insurance Denies Genetic Testing, and How to Navigate Coverage 31.07.2026 34min

  Genetic testing can change the course of a patient’s care, but accessing the right test is not always straightforward. Behind the scenes, insurance coverage decisions, documentation requirements, prior authorization, denials, appeals, and cost concerns can all influence whether a patient receives timely answers. In this episode of DNA Today, we launch a new special series sponsored by Revvity in this episode exploring the health economics of genetic testing and the real-world systems that shape access to genomic medicine. Host Kira Dineen is joined by Dr. Madhuri Hegde, Senior Vice President and Chief Scientific Officer at Revvity, and Mackenzie Mosera Derby, a pediatric genetic counselor at UW Health. Together, they examine genetic testing access from both the diagnostic laboratory and clinical perspectives exploring why insurance coverage remains so inconsistent, what goes into a prior authorization, why genetic tests are commonly denied, and how clinicians can approach appeals and peer-to-peer reviews. In This Episode, We Discuss The transition from stacked laboratory procedure codes to codes for genes, panels, exomes, and genomes How and why insurance coverage varies among payers and individual health plans Coverage differences across hereditary cancer testing, exome sequencing, genome sequencing, reproductive testing, and population screening How rapid and ultra-rapid genome sequencing may be covered differently from standard genome sequencing The limited coverage available for preventive and population-based genomic testing The coordination required among patients, clinicians, laboratories, and insurance companies Why laboratories offering tests with similar names may differ in technology, interpretation, turnaround time, and clinical support What documentation is typically required for a genetic testing prior authorization How clinicians demonstrate medical necessity and clinical utility Why professional guidelines and peer-reviewed literature can strengthen an authorization request The role laboratories play in benefits investigations, billing assistance, financial support, and prior authorization Why laboratories may perform testing without knowing whether they will ultimately be reimbursed Common reasons insurance companies deny genetic testing Why “this test will not change clinical management” can be an overly narrow interpretation of genetic testing’s value How genetic results may inform surveillance, reproductive decisions, recurrence risks, family members, research eligibility, and patient support The role of hospital test utilization committees Why genetic counselors and geneticists should be represented on utilization review teams How letters of medical necessity (LOMN) and peer-to-peer reviews may support an appeal Why genetic counselors may be prevented from conducting peer-to-peer reviews, even when they were the ordering provider The time clinicians spend educating insurance representatives about genetics Why payer policies frequently lag behind genomic technology and professional recommendations The importance of detailed clinical documentation and accurate diagnostic coding The difference between prior authorization, insurance coverage, and guaranteed payment How self-pay pricing and misleading “no-cost” language can create confusion The potential devaluation of genetic testing and genetic counseling services through complementary or low cost self-pay options  Why improving access requires collaboration among patients, clinicians, laboratories, professional organizations, healthcare systems, and payers About The Guests  Madhuri Hegde, PhD, FACMG, is the Senior Vice President and Chief Scientific Officer at Revvity, where she leads the company’s scientific strategy and oversees Revvity Omics’ global network of laboratories. Dr. Hegde is a medical geneticist and an American Board of Medical Genetics and Genomics-certified diplomate in clinical molecular genetics. Her work focuses on advancing
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  #404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane 24.07.2026 21min

  What happens when someone known for strength, stature, and intimidating roles faces a diagnosis most people do not associate with men?   Tyler Mane is known for playing Sabretooth in X-Men and Deadpool & Wolverine, Michael Myers in Halloween, and Ajax in Troy. Before his acting career, Tyler spent more than a decade wrestling professionally around the world, including appearances with WCW and UWF as Big Sky and Nitron. Recently, Tyler has taken on a very different role: raising awareness about male breast cancer.   Tyler joins host Kira Dineen to share his experience of discovering a breast lump, initially believing it was a lipoma, having his concerns dismissed, and ultimately receiving a breast cancer diagnosis. He opens up about his first instinct to keep the diagnosis private, the embarrassment he initially felt, and what motivated him to speak publicly. Episode Discussion Topics The breast lump that led Tyler to seek medical care Why Tyler and his wife, Renae, initially believed the lump was a lipoma Having his concerns dismissed and continuing to pursue answers Tyler’s first reaction to his breast cancer diagnosis The embarrassment and stigma surrounding male breast cancer Why he ultimately decided to share his story publicly Symptoms and physical changes men should pay attention to How masculinity and “toughing it out” can delay medical care The importance of self-advocacy and early detection How cancer treatment differs from the physical demands of wrestling Redefining strength during illness and recovery Genetic counseling and germline genetic testing after a male breast cancer diagnosis The implications of Tyler’s BRCA2+ genetic testing results for treatment and relatives including his adult children  How Tyler’s public image affects the response to his diagnosis Tyler and Renae’s upcoming podcast, MANE AF   Resources & Links Tyler Mane’s Breast Cancer Announcement Instagram Video @TheRealTylerMane @ManeAFpod NCCN Patient Resources for Breast Cancer NCCN patient resources are based on the same treatment information your doctors use and help you talk to your doctor about the best treatment options for your disease. National Cancer Institute: Breast Cancer in Men The National Cancer Institute provides an overview of male breast cancer symptoms, diagnosis, treatment, genetic testing, and questions patients may want to discuss with their healthcare teams. The NCI notes that inherited variants in BRCA1, BRCA2, and other genes may influence treatment and have implications for relatives. Facing Our Risk of Cancer Empowered (FORCE) FORCE provides education, peer support, advocacy, research updates, and resources for people and families affected by inherited cancer risk, including BRCA1, BRCA2, PALB2, ATM, CHEK2, and other genes. Find a Genetic Counselor The National Society of Genetic Counselors’ (NSGC) directory can help patients locate a genetic counselor specializing in cancer genetics, either locally or through telehealth. Cancer Genetic Testing Genetic testing panels vary with how many genes are included. Healthcare providers can order just one gene or around a hundred, and everything in between. Tyler mentioned his possibly including 85, which is plausible.    Relevant DNA Today Podcast Episode #360 Hereditary Breast Cancer on the Big Screen with Love, Danielle Actress and filmmaker Devin Sidell and hereditary cancer advocate Amy Byer Shainman discuss the film Love, Danielle, Devin’s experience with a BRCA1 pathogenic variant, hereditary breast cancer, preventive surgery, family communication, and using storytelling to increase awareness. #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel This episode explores hereditary breast cancer testing, the genes included on breast cancer panels, and how researchers evaluate which genes have sufficient evidence to guide clinical care. #159 Black Cancer Genes on Breast Cancer Attorney and BRCA advocate Erika Stallings and ge
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  #403 Genetic Counseling Boards Prep: ABGC’s New Resources 17.07.2026 30min

  Preparing for the genetic counseling board exam can feel overwhelming. Between the extensive study materials, challenging practice questions, and uncertainty about what to expect on exam day, candidates often struggle to determine where to begin and how to use their preparation time effectively. In this episode of DNA Today, host Kira Dineen is joined by Melanie Hardy and Amy Shikany to explore the new and updated resources available to candidates preparing for the American Board of Genetic Counseling (ABGC) Certification Examination. Melanie Hardy is the 2026 President of ABGC, and Amy Shikany is ABGC President-Elect and a past Chair of the Certification and Education Committee. Together, they discuss ABGC’s Certify webpage, the new CGC self-study guide, the approved references list, a new student webinar, and the updated practice examination that launched on June 15, 2026. They also take listeners behind the scenes of how the certification exam is developed, reviewed, and maintained.   Discussion Topics: What the ABGC Certification Examination is designed to assess Where candidates should begin when navigating ABGC’s certification and exam resources How to use the exam content outline when developing a study plan Why ABGC created its new CGC self-study guide How candidates can use the self-study guide alongside the approved references What candidates can expect from ABGC’s new student webinar How questions for the certification exam are written and reviewed What makes a strong “one best answer” board-exam question How ABGC evaluates questions for accuracy, relevance, fairness, and justice, equity, diversity, and inclusion considerations What has changed in the updated ABGC practice examination How closely the practice exam reflects the structure and reasoning required on the certification exam How candidates should interpret their practice-exam results How the passing standard for the certification exam is determined Preparation steps candidates should take before exam day Encouragement and next steps for candidates who do not pass on their first attempt How certified genetic counselors can contribute to the development and maintenance of the examination One clarification from the conversation: candidates are provided access to a simple calculator during the certification exam.   About the Guests Melanie Hardy, MS, CGC is the 2026 President of the American Board of Genetic Counseling. Through her leadership with ABGC, she supports the organization’s work to establish and maintain certification standards for the genetic counseling profession and provide resources for current and future certified genetic counselors.   Amy Shikany, MS, CGC is President-Elect of the American Board of Genetic Counseling and a past Chair of ABGC’s Certification and Education Committee. Her work with ABGC has included supporting the development, review, and ongoing maintenance of the genetic counseling certification examination.   Resources Mentioned American Board of Genetic Counseling (ABGC) website Introducing the New CGC® Logo & Digital Badge ABGC Certify  Eligibility Requirements Certification Process, Exam and Fees Need-Based Certification Scholarship ABGC CGC Exam Resources Candidate Guide (Start here) Exam Content Outline Self Study Guide  Syndromes and Disorders List on Pages 19 and 20 Practice Exam Examination References  Exam Performance Taskforce Report Student Webinar (Coming Soon) Relevant DNA Today Episodes: #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors — Monica Marvin, Dr. Claire Davis, and Heather Rich explain ABGC’s new Continuing Competence Learning Scenarios, how the requirement fits into recertification, and what certified genetic counselors need to know. #295 Genetic Counseling Board Exam Updates with ABGC — ABGC President Angela Trepanier and Executive Director Heather Rich provide an inside look at the certification exam, including exam development, scoring,
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  #402 How Genetic Genealogy Caught the Golden State Killer 10.07.2026 24min

  What happens when DNA from a decades-old crime scene meets a family tree created generations later? That combination helped investigators identify the Golden State Killer and transformed how law enforcement approaches some of the country’s most difficult cold cases. Content warning: This episode includes discussions of murder, sexual assault, suicide, and other sensitive topics. In this episode of DNA Today, host Kira Dineen speaks with Paul Holes, a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, Paul worked on some of the most infamous cases in American criminal history, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the investigation that ultimately identified Joseph DeAngelo as the Golden State Killer. Paul is also the author of Unmasked: My Life Solving America’s Cold Cases, co-host of the podcast Small Town Dicks, and one of the investigators featured in the television special Celebrity Crime Scene: Marilyn Monroe, available on Hulu. We explore the science, strategy, and ethical complexity behind cold-case investigations. Paul shares how investigators determine whether decades-old evidence still holds value, what kind of DNA evidence would be needed to scientifically resolve the Zodiac case, and why older biological samples create difficult decisions about whether to test now or preserve evidence for future technologies. The episode also dives into the landmark investigation that identified the Golden State Killer. Paul walks through how traditional forensic DNA databases failed to produce a match, why investigative genetic genealogy changed the direction of the case, and how distant relatives’ DNA helped investigators build family trees that eventually led to Joseph DeAngelo. Later in the episode, Paul discusses his latest project, Celebrity Crime Scene: Marilyn Monroe, and how modern virtual reconstruction can be used to reexamine a historic death scene more than six decades later. Episode Discussion Topics Cold-case investigations and how evidence is reexamined decades later How investigators decide which biological samples may still have forensic value The Zodiac Killer case and what would be needed to consider it scientifically solved The challenges of DNA evidence from stamps, envelopes, letters, and other handled items Why finite evidence creates difficult decisions about testing now versus waiting for future technology The role of DNA in linking the Golden State Killer crimes before a suspect was identified Why traditional forensic DNA databases did not solve the case How investigative genetic genealogy helped generate a new lead How distant relatives’ DNA can help identify someone who never uploaded their own DNA The scientific and investigative process behind building genealogical trees from crime-scene DNA How investigators narrowed family branches until Joseph DeAngelo became a viable suspect Reconstructing Marilyn Monroe’s final hours using virtual crime-scene technology What records, photographs, reports, and witness statements can reveal in historical case reviews About Paul Holes Paul Holes is a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, he investigated some of the country’s most complex and high-profile cases, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the Golden State Killer case. Paul’s work helped bring national attention to the power of investigative genetic genealogy, particularly through the identification of Joseph DeAngelo as the Golden State Killer. He is the author of Unmasked: My Life Solving America’s Cold Cases, co-host of Small Town Dicks, and appears in Celebrity Crime Scene: Marilyn Monroe. Resources Unmasked: My Life Solving America
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  #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan 03.07.2026 36min

  Just a few years ago, there were no pharmacological treatments for patients with achondroplasia. Today, with multiple therapies on the market, the conversation has shifted from if we can treat to how we treat safely, consistently, and thoughtfully.  In this third and final installment of our achondroplasia series, sponsored by BioMarin, we explore the recently published international consensus guidelines for vosoritide. These guidelines provide a roadmap for the entire treatment lifecycle, from the initial diagnosis and counseling to initiation, monitoring, and eventually, the transition off therapy.  You can review the prescribing information for vosoritide here with additional safety information, including about the risk of low blood pressure.   Joining us in-person all the way from Australia is the lead author of these guidelines, Dr. Ravi Savarirayan. Dr. Savarirayan is a global leader in skeletal dysplasia and has been a driving force in the clinical development of vosoritide from its earliest stages.    Topics Discuss:    The Journey of Vosoritide: Dr. Savarirayan shares his personal "why", from the early research phases to the clinical trials that changed the landscape of skeletal dysplasia care.    Precision Medicine at the Molecular Level: How vosoritide acts as the first precision medicine approved for achondroplasia by targeting and counteracting overactive FGFR3 signaling, along with important safety information such as a risk for low blood pressure    The International Guidelines: Why a global consensus was necessary and how it addresses gaps in real-world clinical practice.    The Treatment Lifecycle:    Counseling: Setting expectations and having the first conversation with families.  Initiation: Practical tips for daily subcutaneous injections and establishing a routine.  Safety & Monitoring: How clinicians monitor growth and manage safety considerations like hypotension across different age groups.  Discontinuation: How to navigate growth plate closure and the transition off therapy.  The Future of Care: How these guidelines will evolve as we gather more long-term, real-world data.    Our Guest Dr. Ravi Savarirayan:    Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia.    Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA).    Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries.     His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow.    Summary:   We talk about the journey to vosoritide, Dr. Ravi’s personal history with achondroplasia research, published treatment guidelines and how vosoritide is approved under accelerated approval to increase linear growth in pediatric patients with achond
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  #400 The Story Behind "DNA Today" 26.06.2026 34min

  Four hundred episodes. Nearly fourteen years of conversations. One podcast that began with a high school student, a Rock Band microphone, and a deep curiosity about genetics. For this milestone episode, DNA Today is turning the microphone around. Kira Dineen is joined by Jess Rizzo, a 2026 graduate of the Rutgers University Genetic Counseling Master’s Program, to look back at the evolution of DNA Today, from its earliest episodes in 2012 to becoming a multi-award-winning genetics podcast and the foundation for Gene Pool Media. Kira shares how the original idea for DNA Today came together, where the name came from, and what she remembers about recording those first episodes. She also reflects on the major turning points that shaped the podcast, including its first sponsorship, conversations with prominent leaders in genetics, and interviews that changed how she thinks about both science and storytelling. The conversation explores what makes someone an effective science communicator, what separates a good podcast guest from an unforgettable one, and how DNA Today expanded into Gene Pool Media. Kira also looks ahead to the future of the podcast and considers whether the version of herself who started the show in 2012 could ever have imagined reaching Episode 400. The episode concludes with a rapid-fire round of “DNA Today Superlatives,” featuring Kira’s dream guests, proudest episode production, most surprising topics, most popular episode, and the conversations that have had the greatest personal impact on her. An exciting announcement, since recording we learned we have been ranked number one on Million Podcast’s list of “Best DNA Podcasts in the US”.   Thank you to our audience for sticking with us! Whether you have been listening since 2012, or last week. We appreciate your support in growing DNA Today over the last 14 years.  About Host Kira Dineen Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has 15 years of podcast experience fueled by a passion for science communication. She has hosted and/or produced a dozen podcasts, many of which are in her science podcast network: Gene Pool Media. Her flagship show, DNA Today, is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show has won the Best Science and Medicine Podcast Award for three years, among others. Over the last 14 years, DNA Today has produced over 400 episodes with support from over 100 sponsors. She was accepted into The Podcast Academy and previously served on the National Society of Genetic Counselor’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College and is a practicing licensed certified genetic counselor at a high risk pregnancy center in Connecticut. Kira serves as an adjunct faculty member at Bay Path University teaching Ethics and Reproductive Genetics.  In This Episode, We Discuss How DNA Today began in 2012 The story behind the podcast’s name What the earliest recordings were like How the show has evolved over 400 episodes Major episodes and guests that shaped the direction of the podcast The first DNA Today sponsorship on Episode 100 (shoutout KGI)  What makes a strong science communicator The qualities that make a podcast guest memorable How Gene Pool Media grew out of DNA Today The lessons Kira has learned from interviewing patients, families, researchers, genetic counselors, physicians, advocates, and other experts The future of DNA Today and Gene Pool Media Kira’s favorite, most impactful, and most surprising episodes DNA Today Episodes Referenced #25: Hereditary Cancer Syndromes with Ellen Matloff  #110: Analyzing Gattaca #142 Barbara Fortini on KGI’s Genomic Data Analytics #100: Human Hereditary with Carl Zimmer #211: Gene Patents with
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  #399 How PKU Changed Newborn Screening Forever 19.06.2026 40min

  What condition helped spark the creation of newborn screening in the United States? It was Phenylketonuria, or PKU, a rare inherited metabolic disorder that forever changed how we identify and treat genetic conditions from the very start of life. In this in-person episode of DNA Today, we kick off a three-part series on phenylketonuria, better known as PKU, by looking at how one condition became central to a major public health shift. Host Kira Dineen is joined in person by Sarah Chamberlin and Ryan Miller to explore the scientific, clinical, historical, and deeply personal sides of PKU. We explore the history of newborn screening itself, including the work of Dr. Robert Guthrie and the development of the Guthrie card. Sarah brings a remarkable piece of history to the recording: the original stamp used to create early Guthrie cards. Ryan, Sarah, and Kira unpack why PKU remains both a newborn screening success story and an ongoing challenge. From treatment access and medical nutrition coverage to state-by-state differences in newborn screening panels and the promise and complexity of newborn sequencing, this episode shows why PKU is still shaping conversations about genetics, public health, and rare disease care. Thank you to PTC Therapeutics for sponsoring this three-part series on PKU. Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice. Episode Discussion Topics Why PKU helped launch newborn screening in the United States What life was like for individuals with PKU before newborn screening How PKU affects the body on a metabolic level The role of phenylalanine hydroxylase deficiency Why elevated phenylalanine levels can impact brain development Dr. Robert Guthrie’s role in developing newborn screening The history and significance of the Guthrie card Sarah’s experience learning her daughter’s newborn screen was flagged for PKU What confirmatory testing and early treatment looked like for Izzy How newborn screening panels vary across states What the Recommended Uniform Screening Panel, or RUSP, is Gaps in access to medical formula and low-protein medical foods Why insurance coverage remains a major challenge for families The promise and concerns around newborn sequencing How clinicians can better support newly diagnosed families Why connecting families with community early can be life-changing The need for more metabolic geneticists, genetic counselors, and dietitians Guest Bios Sarah Chamberlin is a parent of a child with PKU and a founder and the Chief Program Officer of flok, a patient advocacy organization supporting individuals and families affected by inherited metabolic disorders. Ryan Miller is Senior Director, Field Medical Lead at PTC Therapeutics on the U.S. Medical Affairs Metabolism team, where he supports PKU. He is trained as a genetic counselor. Resources PKU / Phenylketonuria Phenylalanine hydroxylase deficiency ACT Sheet The Newborn Screening Information Center (NBSIC) Recommended Uniform Screening Panel, or RUSP RUSP overview for families ACMG Newborn Screening ACT Sheets and Algorithms flok health Baby’s First Test: Newborn Screening Information National PKU Alliance Guthrie-Kock Scholarships from flok David’s story of learning of an older brother with PKU who was institutionalized Referenced DNA Today Podcast Episode #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida Connect With Us Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 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! The video component of this episode is available on our YouTube channel and website. Some of these epis
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  #398 Soil Microbiomes, Plant Genetics, and Groundswell with Nikki Reed and Rebecca Tickell 12.06.2026 29min

  What if the future of human health doesn’t just begin in the clinic, but in the soil? In this episode of DNA Today, we explore the new documentary Groundswell, the final chapter in the regenerative agriculture documentary trilogy that began with Kiss the Ground and continued with Common Ground. Narrated by Demi Moore and Woody Harrelson, Groundswell follows regenerative agriculture solutions across five continents, showing how restoring soil health can support biodiversity, food systems, local economies, climate resilience, and human health. This episode takes DNA Today into a different but deeply relevant corner of genetics and genomics. While we often focus on human genetics, Groundswell broadens the lens to show how genetics is embedded in entire ecosystems. Soil is alive with microbial diversity. Plants depend on complex relationships with bacteria, fungi, insects, and the environment around them. Crop diversity and seed diversity can influence resilience to drought, pests, disease, and changing climate conditions. Human health is also shaped not only by our DNA, but by the environments we live in, the food we eat, the water we drink, the chemicals we are exposed to, and the microbes we encounter. Joining us are Nikki Reed, co-producer of Groundswell, and Rebecca Harrell Tickell, co-director of the film.  About Nikki Reed Many listeners will know Nikki from her role as Rosalie Hale in The Twilight Saga, as well as her work in Thirteen, which she co-wrote and starred in, and her role in The O.C. Beyond acting, Nikki is also a filmmaker, farmer, entrepreneur, and environmental advocate. About Rebecca Harrell Tickell Rebecca Harrell Tickell is an award-winning filmmaker, producer, and environmental activist whose work includes Kiss the Ground, Common Ground, and now Groundswell. Through this trilogy, Rebecca and her collaborators have helped bring regenerative agriculture into mainstream conversations about climate, food, health, and the future of farming. In This Episode, We Discuss How Nikki Reed’s experience in Twilight shaped the way she thinks about storytelling, cultural influence, and using her platform for impact Why Nikki became involved in regenerative agriculture and how her connection to food, farming, and environmental advocacy became personal What regenerative agriculture means and how it differs from conventional agriculture Why healthy soil is not just “dirt,” but a living ecosystem filled with microbes, fungi, roots, insects, and organic matter How soil health connects to plant health, nutrient cycling, water retention, and ecosystem resilience Why biodiversity matters above and below ground, from soil microbial communities to crops, pollinators, insects, animals, and humans How regenerative agriculture reframes food systems as regionally specific, community-based, and connected to local ecosystems The connection between food, chemical exposures, the environment, and gene-environment interactions Why the guests see regenerative agriculture as both a practical solution and a hopeful movement How storytelling can help make complex topics like soil science, microbes, farming systems, and climate resilience more accessible Fact Check & Context This episode includes a passionate discussion about regenerative agriculture, pesticides, cancer, fertility, carbon, and soil health. As with many topics at the intersection of environment and health, the science is complex. Here are a few important clarifications and sources for our audience members who want to dig deeper. Cancer Rates The episode references concern about rising cancer rates, including pediatric cancer and cancers in younger adults. The most accurate summary is nuanced. For childhood and adolescent cancers in the U.S., a 2025 analysis found that age-standardized cancer incidence increased from 2001 to 2016, then decreased from 2016 to 2022. Cancer death rates among U.S. youth ages 0–19 also declined 24% from 2001 to 2021, according to CDC
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  #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors 05.06.2026 32min

  Recertification is changing for genetic counselors. The American Board of Genetic Counseling (ABGC) now requires completion of new Continuing Competence Learning Scenarios as part of maintaining the CGC credential. These are not traditional quizzes with one correct answer. Each scenario presents a complex genetic counseling situation, followed by reflective questions, peer rationales, and educational resources designed to support lifelong learning and continuing competence. To help us understand why this change was made and what genetic counselors need to know, we are joined by three guests from ABGC: Monica Marvin and Dr. Claire Davis, co-chairs of ABGC’s Continuing Competence Committee, and Heather Rich, Executive Director at Smithbucklin, who manages ABGC operations. We break down why these Learning Scenarios were created, how the requirement works, what counts toward recertification, and how ABGC is approaching competence in a field where many real-world situations are nuanced, reflective, and shaped by context.   In This Episode, We Discuss: Why ABGC reevaluated the recertification process for certified genetic counselors What was missing from a recertification model based primarily on CEUs or reexamination What Continuing Competence Learning Scenarios are, and what they are not How these scenarios differ from traditional quizzes or tests Why there may be more than one thoughtful way to respond to a complex genetic counseling situation How panelist rationales help Diplomates understand the reasoning of other competent practitioners How the new requirement is being phased in based on recertification cycle What genetic counselors in current recertification cycles need to know about voluntary scenario completion How each scenario earns 0.1 CEU and how those CEUs fit into existing recertification requirements How often new Learning Scenarios will be published How scenarios are developed and reviewed by ABGC’s Continuing Competence Committee Why review by the DEIJ Committee is an important part of the process How Learning Scenarios can address complex topics such as bias, cultural humility, access, identity, and patient-centered care Whether future scenarios may expand beyond patient-facing clinical roles to include genetic counselors working as medical science liaisons, variant curators, educators, and other nontraditional roles   The Panel: Monica Marvin, MS, CGC, is the Program Director for the University of Michigan Genetic Counseling Graduate Program and Clinical Professor of Internal Medicine and Human Genetics at the University of Michigan. Monica was the inaugural President of the Michigan Association of Genetic Counselors, the 2011 Chair of the National Society of Genetic Counselors Access and Service Delivery Committee and the 2014 Chair of the National Society of Genetic Counselors Payor Subcommittee. She also served on the Board of Directors for the National Society of Genetic Counselors in 2016 and 2017 and is a current member of the Accreditation Council of Genetic Counselors Program Review Committee. In addition, Monica serves on the Advisory Board for multiple genetic counseling programs, and is the co-chair of the American Board of Genetic Counselors Continuing Competence Committee. She received the 2014 Strategic Leader award from the National Society of Genetic Counselors and was instrumental in the 2018 passage of legislation to license genetic counselors in the state of Michigan. She is passionate about the provision of high-quality genetic counseling services.   Claire Davis, EDD, MS, CGC has contributed to the learning, growth, and development of genetic counselors for 19 years. She received her Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai in 2007. She earned a doctorate in Adult Learning and Leadership from Teachers College, Columbia University, completing a dissertation on how genetic counselors learn to incorporate innovations into their practi
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  #396 Gene Therapy for Anxiety? Precision Psychiatry through CRISPR & RNA 29.05.2026 31min

  Anxiety is one of the most common mental health conditions, but for many people, it can also feel deeply isolating. Current treatments such as therapy, SSRIs, and benzodiazepines can be life-changing, but they do not work for everyone, and they often manage symptoms rather than addressing the underlying biology of anxiety. In this episode of DNA Today, host Kira Dineen is joined by Dr. Troy Rohn, neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. Dr. Rohn is also the author of Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, a brand new book exploring how CRISPR, RNA interference, neurogenetics, and precision psychiatry could reshape the future of mental health treatment. We take a deeply personal and scientific look at anxiety. Dr. Rohn shares how his own experiences with chronic anxiety and PTSD helped inspire his work, while also explaining the brain biology behind anxiety, including the roles of serotonin, GABA, the amygdala, hippocampus, insula, and thalamus. A major focus of the episode is the 5-HT2A serotonin receptor, produced through the HTR2A gene, and why this receptor has become an important target in Dr. Rohn’s preclinical research. Kira and Dr. Rohn explore how today’s treatments broadly influence serotonin signaling, while emerging gene-based approaches may someday allow researchers to more precisely reduce or silence specific pathways involved in anxiety. The episode also breaks down the difference between CRISPR gene editing and RNA interference, including why reversibility, safety, off-target effects, and long-term consequences matter so much when discussing potential therapies for the brain. Dr. Rohn also explains one of the biggest challenges in the field: getting therapies across the blood-brain barrier. Because this science is still preclinical, the conversation also focuses on how to talk about hope responsibly. Could gene therapy someday help treat anxiety at its source? Possibly. But there are major scientific, regulatory, ethical, and access questions that need to be answered before these approaches could become part of clinical care.   In This Episode, We Discuss: The lived experience of anxiety, PTSD, and chronic hypervigilance Why anxiety is shaped by both genes and environment How current anxiety treatments work, including SSRIs, benzodiazepines, CBT, and service animals Why SSRIs can help some people but fall short for others The role of serotonin, GABA, and brain circuits in anxiety What the 5-HT2A receptor is and why it matters How the HTR2A gene leads to production of the 5-HT2A receptor protein The difference between broadly changing serotonin levels and targeting a specific receptor pathway How CRISPR could be used to make more permanent DNA changes How RNA interference could offer a more temporary or reversible way to reduce gene expression What preclinical animal studies can and cannot tell us Why the blood-brain barrier is such a major challenge for brain-targeted therapies Ethical questions around using gene therapy for mental health conditions How to balance scientific excitement with caution and realistic expectations   Guest Bio Dr. Troy Rohn is a neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. His research has focused on neurological disorders, including Alzheimer’s disease, anxiety, and memory impairment. In his book Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, Dr. Rohn explores how gene therapy, CRISPR, RNA interference, and precision psychiatry could open new possibilities for treating anxiety and other brain-based conditions.   About the Book Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders explores the future of mental health treatment through the lens of gene therapy and neuroge
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  #395 Mapping Melanoma: How Spatial Biology Is Advancing Cancer Research 22.05.2026 28min

  What if we could study melanoma not just cell by cell, but in the exact place those cells live inside the tumor? That is the promise of spatial biology. In this episode of DNA Today, we explore how emerging genomic technologies are transforming melanoma research by allowing scientists to examine not only which cells are present in a tumor, but where they are located, how they interact, and why those relationships matter. May is Melanoma Awareness Month, making this an important time to spotlight how tools like spatial transcriptomics, single-cell sequencing, and multiomics approaches are helping researchers better understand tumor behavior, immune response, and treatment resistance. Joining us are Professors Thomas Tüting and Andreas Braun, German dermatologists and researchers whose work focuses on melanoma, tumor immunology, and translational cancer research. We are also joined by Dr. Jia Hui Khoo, Product Manager at MGI, who brings expertise in spatial biology and the technologies helping make this research possible. Together, we discuss an exciting melanoma research project profiling human melanoma samples from the University Hospital Magdeburg’s biobank, using MGI’s DCSP approach, which spans DNA, cell omics, spatial omics, and proteomics. This work has the potential to deepen our understanding of melanoma biology, tumor heterogeneity, immune landscapes, and the future of precision oncology. In this Episode, We Discuss: How melanoma research and treatment have evolved, especially with the rise of immunology and immunotherapy. Why human melanoma biobanks are so valuable for translational cancer research. How spatial biology helps researchers understand tumors in context, not just as isolated cells. Why the location of cells within a tumor matters for understanding melanoma progression and immune response. How spatial transcriptomics and single-cell sequencing can reveal differences between patients who respond well to immunotherapy and those who do not. What researchers hope to learn by profiling STOmics spatial transcriptomics datasets alongside matched single-cell datasets from human melanoma and mouse models. How MGI’s DNBSEQ and STOmics technologies support oncology research. What MGI’s DCSP approach brings to melanoma research by integrating DNA, cell omics, spatial omics, and proteomics. Why high-resolution spatial technologies like Stereo-seq may be especially important for studying the tumor microenvironment. How multiomics research could eventually inform biomarker discovery, patient stratification, therapeutic development, and the future of human pathology. Guests:  Professor Thomas Tüting, MD is Professor and Chairman of Dermatology at University Hospital Magdeburg in Germany, where his work focuses on tumor immunology, melanoma progression, metastasis, and resistance to cancer immunotherapy. He trained in dermatology at University Hospital Mainz and completed research training in experimental tumor immunology at the University of Pittsburgh. His research has explored how the immune system shapes melanoma biology, including the role of inflammation, tumor plasticity, and the tumor microenvironment in cancer progression and treatment response. In 2024, Professor Tüting was awarded an ERC Synergy Grant with collaborators at Uppsala University to advance immunotherapy research for malignant melanoma and brain tumors, with a focus on the vascular-immune interface and local anti-tumor immune activation.  Professor Andreas D. Braun, MD is a dermatologist and researcher in the Department of Dermatology, Allergology and Venereology at the University Hospital Schlewsig-Holstein in Lübeck. His research centers on melanoma biology, tumor progression, metastatic spread, and mechanisms that influence response or resistance to immunotherapy. Professor Braun has co-authored studies on topics including Hgf-Met and BRAF signaling in melanoma, tumor-intrinsic Toll-like receptor 4 signaling, MHC-I downregulation, CD8
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  #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida 15.05.2026 33min

  Newborn sequencing is no longer just a future-facing idea discussed in genetics circles. It is beginning to take shape through real pilot programs, state policy, and health system efforts exploring how genomics could fit into routine newborn care. In this episode of DNA Today, we take a closer look at one example of that momentum: Florida’s Sunshine Genetics Act. The legislation created a five-year, voluntary newborn genetic sequencing pilot program and established the Sunshine Genetics Consortium. The program allows parents to opt in to newborn genetic screening, including whole genome sequencing. The state allocated millions for the Sunshine Genetics Pilot Program, along with additional funding for the Florida Institute for Pediatric Rare Diseases. To unpack what this could mean for rare disease diagnosis, pediatric genomic medicine, and the future of newborn screening, our host Kira Dineen is joined by Dr. Pradeep Bhide, Director of the Florida Institute for Pediatric Rare Diseases, and State Representative Adam Anderson, who championed the legislation after losing his son Andrew to Tay-Sachs disease at age 4.  About Our Guests Dr. Pradeep G. Bhide is the Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience, Director of the Florida Institute for Pediatric Rare Diseases, and Director of the Center for Brain Repair at the Florida State University College of Medicine. His work focuses on developmental neuroscience, pediatric rare disease research, precision diagnostics, and advancing treatments for children and families affected by rare genetic conditions. Representative Adam Anderson represents District 57 in the Florida House of Representatives. He sponsored and championed the Sunshine Genetics Act, drawing from his family’s personal experience with rare disease after the loss of his son Andrew to Tay-Sachs disease. Through this legislation, Representative Anderson has helped position Florida as one of the first states to explore how genomic sequencing could be integrated into newborn screening and pediatric rare disease care.  In This Episode, We Discuss: How Representative Anderson’s son Andrew inspired his advocacy for newborn sequencing and rare disease legislation What the Sunshine Genetics Act makes possible for families in Florida How newborn genome sequencing could shorten or prevent the rare disease diagnostic odyssey The role of the Sunshine Genetics Consortium in coordinating researchers, clinicians, geneticists, children’s hospitals, and biotech innovators across the state Why early genomic diagnosis can influence medical management, specialist referrals, surveillance, treatment planning, and access to clinical trials How Florida’s approach fits into the broader global movement toward newborn sequencing, alongside programs such as Genomics England’s Generation Study, GUARDIAN in New York, BeginNGS at Rady Children’s, and NIH-funded BEACONS What “whole genome sequencing” means in the context of this pilot, and how programs may distinguish between sequencing the whole genome and analyzing a targeted set of genes How families may be educated about voluntary participation and informed consent What types of results may be returned to parents and healthcare practitioners How programs are thinking about childhood-onset, treatable, preventable, and potentially adult-onset findings The connection between earlier diagnosis and emerging gene-based therapies What it takes to move complex genomic medicine legislation forward How Florida is building infrastructure for pediatric genomic medicine Which outcomes will matter most as the five-year pilot unfolds, including enrollment, sequencing metrics, clinical impact, public health impact, cost effectiveness, and economic benefits, which are included in the reporting requirements for the program.  Why This Conversation Matters For many families affected by rare disease, the search for a diagnosis can take years. Those years can include speci
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  #393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap 08.05.2026 29min

  Despite incredible advances in genetic testing, many patients with suspected rare diseases still spend years searching for answers. In this episode, we explore how whole genome sequencing, paired with emerging multi-omic and multimodal technologies, is helping clinicians move beyond the limits of single-test approaches to deliver clearer, more actionable answers for patients and families. Joining us in person for this conversation are two experts from Baylor Genetics: Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer, and Chris Sands, Chief Growth Officer. You may remember them from Episode 385, where they joined our ACMG recap episode to discuss Baylor Genetics’ announcement around these evolving technologies. In this episode, we discuss the growing momentum behind whole genome sequencing in rare disease diagnosis, why some patients remain undiagnosed even after initial testing, and how layered approaches such as optical genome mapping and long-read sequencing may help close that diagnostic gap. We also talk about how a confirmed diagnosis can affect care management, treatment access, and clinical trial eligibility for patients and families. Topics Covered:  The growing role of whole genome sequencing in rare disease diagnosis How healthcare systems and clinical practices are adopting genome sequencing How whole genome sequencing is changing pediatric patient care Why some patients remain undiagnosed after initial WGS testing The current diagnostic gap in rare disease genetics Efforts underway to improve diagnostic yield What a multimodal and multi-omic approach looks like in practice How optical genome mapping and long-read sequencing complement WGS How labs determine when to layer on additional technologies The real-world impact of a confirmed diagnosis on treatment and trial access About Dr. Christine Eng: Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. She also serves as Vice Chair for Diagnostic Laboratory Affairs at Baylor College of 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. About Chris Sands: Chris Sands is the Chief Growth Officer at Baylor Genetics, where he works closely with healthcare systems, providers, and institutions to expand access to advanced genetic testing. He brings a strong strategic and commercial perspective to the evolving role of genome sequencing in clinical care, particularly in supporting adoption of new technologies that can improve the diagnostic journey for rare disease patients. Relevant Resources:  Learn more about Baylor Genetics here Baylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental Technologies Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention” Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282. Undiagnosed Disease Network   Relevant DNA Today Podcast Episode: #358 AGBT Precision Health 2025 Meeting Recaps and Reflections  #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey #385 Insid