DNA Today: A Genetics Podcast

For most people, eating is an ordinary part of the day. But when you have phenylketonuria (PKU), every meal can involve calculations, preparation, medical monitoring, and decisions that affect how your brain and body feel. This is DNA Today, a podcast from Gene Pool Media, where we explore the breakthroughs, challenges, and human impact of genetics and genomics. I’m your host Kira Dineen, a genetic counselor and award-winning science podcaster and speaker. This is a continuation of our PKU series, sponsored by PTC Therapeutics. In the first episode (Episode 399), we explored how PKU helped launch newborn screening and why early diagnosis can completely change a child’s future. In this second episode, we’re looking at what comes next: what it actually means to manage PKU through food, and how this affects school, friendships, celebrations, mental health, independence, and a person’s relationship with food. Joining us are a mother and daughter who have experienced that journey together: Dr. Jennifer Brown is a geneticist, science communicator, and author of When the Baby Is Not OK: Hopes & Genes, a wonderful memoir about genetics, motherhood, and raising children with PKU. Lillian Isabella is a playwright, actor, advocate, and former National PKU Alliance board member who lives with PKU. She is also Dr. Brown’s daughter. 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 What a “low-protein diet” actually requires for someone living with PKU How protein and phenylalanine tolerance are determined and monitored over time The work involved in grocery shopping, measuring food, reading labels, preparing specialized meals, and ordering medical foods Dr. Brown’s experience learning to treat feeding her newborn as a form of medical care Raising two daughters with PKU and balancing dietary management with everyday family life Lillian’s relationship with PKU formula and medical shakes throughout different stages of life How elevated phenylalanine levels can affect focus, energy, mood, and daily functioning Navigating school, birthday parties, holidays, camps, travel, dating, and other food-centered social situations When Lillian first became aware that she ate differently from her peers How constant food monitoring can influence a person’s emotional relationship with eating PKU-related frustration, burnout, anxiety, guilt, and resentment How language used by clinicians can shape a child’s identity and relationship with their condition Transitioning from parent-managed PKU care to greater independence in adolescence and adulthood Returning to metabolic care after time away Lillian’s experience turning her lived experience with PKU into advocacy Advice for parents who have just learned their baby has PKU How guidance and support may change through early childhood, adolescence, and adulthood Dr. Brown and Lillian’s hopes for the future of PKU care and what could make everyday management easier Resources & Links When the Baby Is Not OK: Hopes & Genes by Dr. Jennifer Brown 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 Baby’s First Test: Newborn Screening Information National PKU Alliance Relevant DNA Today Podcast Episode Episode 399: PKU and the History of Newborn Screening – In the first installment of this series, we explore how PKU helped launch newborn screening and why early diagnosis can dramatically change a child’s future. Connect with DNA Today: You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNATo

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

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

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

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