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  • #410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

    #410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?
    2026/09/04
    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 testingChromosomes, genes, and microdeletions explained through a genomic-library analogyHow to interpret the chromosomal address “1q21.1”What it means to have a piece of chromosome 1 missingPutting the size of the deletion into perspectiveWhy the size of a genetic change does not always predict its medical impactThe wide spectrum associated with 1q21.1 microdeletions, ranging from no apparent features to developmental and congenital differencesHow two people with the same or similar deletion can be affected very differentlyWhy identifying the deletion does not mean someone will develop every associated conditionPossible developmental, neurological, physical, and behavioral features reported with 1q21.1 microdeletionsThe difference between a genetic risk factor and a diagnosis or predictionWhether paralysis, leukemia, or feeding-tube use are associated with this deletionWhy a genetic finding should not automatically be used to explain every aspect of someone’s medical or behavioral historyThe 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 Listen to PRETEND on Apple PodcastsListen to PRETEND on SpotifyLearn more at the PRETEND podcast website1q21.1 Microdeletion—MedlinePlus Genetics1q21.1 Recurrent Deletion—GeneReviews1q21.1 Microdeletions—Unique, Understanding Rare Chromosome and Gene Disorders Relevant DNA Today Podcast Episodes True Crime and Forensic Genetics #402 How Genetic Genealogy Caught the Golden State Killer — Retired cold-case investigator Paul Holes explains how investigative genetic genealogy identified Joseph DeAngelo and discusses DNA evidence in the Golden State Killer, Zodiac Killer, and other major cases.#326 How DNA Solves Crimes: The Forensic Science Behind True Crime — DNA-analysis pioneer Dr. Henry Erlich explores PCR, forensic DNA databases, exonerations, the O.J. Simpson case, and the scientific and ethical complexities of DNA evidence.#131 Libby Copeland on Law Enforcement Use of Genetic Databases — Journalist and author Libby Copeland examines how law enforcement uses ...
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    44 分
  • #409 How DNA Testing Exposed the Dark History of American Adoption

    #409 How DNA Testing Exposed the Dark History of American Adoption
    2026/08/28
    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 transplantHow DNA testing connected David with his biological familyWhat David discovered about his birth parents’ efforts to keep himHow sealed adoption records restrict access to identity and family medical historyStigma, coercion, and secrecy in postwar American adoptionUnethical research conducted on infants awaiting adoptionThe emotional complexity of unexpected biological connections and family reunionsPrivacy concerns surrounding commercial DNA databasesSupport resources for adoptees and others navigating DNA discoveriesMargaret’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 GlaserAmerican Baby by Gabrielle Glaser The DNA Guide for Adoptees by Brianne Kirkpatrick Williams and Shannon Combs-BennettWatershed DNAAdoptee Rights Law CenterLiberty Lost PodcastDNA Clarity and Support PodcastCurrent 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 states currently have an unrestricted right to obtain copies of their own pre-adoption original birth records without discriminatory restrictions. These maps categorize US states into three primary groups: Unrestricted, Compromised, and Restricted, with definitions and numbers below. A list of states and restrictions is also available, as well as a changelog to the map over time. Relevant DNA Today Episodes #103 Brianne Kirkpatrick on Adoptee Genetic Testing#139 Dani Shapiro on Her Donor-Conceived Discovery#242 Misattributed Paternity with Richard Wenzel#300 Netflix’s The Man With 1,000 Kids: Fertility Fraud Expert Eve Wiley and Advocate Laura#131 Libby Copeland on Law Enforcement Use of Genetic Databases Connect 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, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video ...
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    43 分
  • #408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

    #408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia
    2026/08/21
    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 bodyThe perinatal, infantile, childhood, adult, and odonto forms of HPPPrenatal and infantile presentations of severe HPPClinical and dental signs in childrenFractures, chronic pain, fatigue, weakness, and dental concerns in adultsHow manifestations may change throughout a person’s lifetimeVariability among relatives with the same familial ALPL variantsCommon diagnostic delays and misdiagnosesDistinguishing HPP from other causes of rickets and skeletal abnormalitiesDifferentiating HPP from osteoporosis, osteopenia, osteoarthritis, and fibromyalgiaThe importance of persistently low ALP and appropriate reference rangesAlternative explanations for a low ALP resultThe HPP International Working GroupThe roles of laboratory testing, radiographs, dental records, and medical historyWhen molecular testing of the ALPL gene may be appropriateWhether 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 challenge of hypophosphatasia diagnosis in adults: Results from the HPP International Working Group Literature Surveillance. Osteoporosis International. 2024;35(3):439–449.Soft Bones: The U.S. Hypophosphatasia Foundation provides education, support, advocacy, and community resources for individuals and families affected by HPP.Explore Soft Bones’ HPP resources, including educational materials for patients, caregivers, and healthcare professionals. Relevant DNA Today Episodes #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer: Actor Atticus Shaffer discusses living with osteogenesis imperfecta, his diagnostic and treatment experiences, and what he wants healthcare providers to understand about the condition.#301 Dwarfism with Colleen Gioffreda: Colleen Gioffreda shares her personal and professional perspectives on achondroplasia, skeletal dysplasias, parenting, adoption, accessibility, and advocacy.#348 NIPT Beyond the Basics: Screening for Single-Gene Conditions: Dr. Fred Ushakov explains how ...
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    38 分
  • #407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis

    #407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis
    2026/08/14
    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 symptomsWhy professional athletes may normalize pain and avoid disclosing injuriesThe symptoms Art initially attributed to football, including carpal tunnel syndrome, trigger finger, back problems, neuropathy, joint and tendon injuries, and a torn bicepsWhy a torn biceps can be a potential warning sign of transthyretin amyloidosisLiz’s early belief that Art’s symptoms were natural consequences of his football careerWhen Art’s cardiac symptoms caused Liz to realize something else might be happeningArt’s history of atrial fibrillation and his initial resistance to medicationHis evaluations through the NFL Player Care Foundation wellness programThe family health history questions that helped connect Art’s seemingly unrelated symptomsHis brother’s heart transplantHis nephew’s sickle cell disease, amyloidosis, and earlier genetic test resultWhy Art’s nephew was originally evaluated for Marfan syndrome How genetic testing identified Art’s V122I TTR variantThe relief of finally understanding the cause of Art’s health problemsHow the diagnosis changed conversations with their 11 children and extended familyWhy family health history may be one of the most valuable legacies a family can preserveThe difference between carrying a genetic variant and developing symptomsWhy ancestry can help identify risk but should not be used to exclude someone from considerationArt’s mistrust of the medical and pharmaceutical industries, and how his perspective evolvedWhat happened when Art reduced and stopped his heart medication without medical guidanceWhy finding a healthcare team that explains the purpose of treatment is so importantHow Liz advocated for Art when she realized he was not following his prescribed treatment planThe importance of asking questions and making healthcare decisions with qualified cliniciansHow Art uses humor and personal storytelling to make medical information approachableWhy Art and Liz founded Still 4 LifeMeeting people where they are through free community educationEncouraging families to discuss their health history and advocate for one anotherTurning a hereditary diagnosis into a game plan for a healthier community About Hereditary ATTR Amyloidosis Hereditary transthyretin amyloidosis is caused by a disease-associated variant in the TTR gene. The variant makes the transthyretin protein more likely to misfold and accumulate as amyloid deposits in organs and tissues. Depending on the individual and the specific variant, hereditary ATTR amyloidosis can affect the heart, peripheral nerves, autonomic nervous system, digestive system, kidneys, and other parts of the body. Possible warning signs can include cardiomyopathy, heart failure, ...
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    40 分
  • #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan

    #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan
    2026/07/03
    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 achondroplasia with open epiphyses. We also discuss the most serious side effect seen—transient decreases in blood pressure, which is why patients should have adequate food and fluid intake prior to administration. We also cover that it is a daily injection and that injection site reactions are the most common side effect and some patients also experienced vomiting, injection site urticaria, arthralgia, decreased blood pressure, and gastroenteritis. Those aren't all the side effects, so please refer to the prescribing information here for more information about vosoritide. Relevant Resources: Savarirayan, R., Hoover-Fong, J., Ozono, K. et al. International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia. Nat Rev Endocrinol 21, 314–324 (2025). https://doi.org/10.1038/s41574-024-01074-9 ...
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    37 分
  • #402 How Genetic Genealogy Caught the Golden State Killer

    #402 How Genetic Genealogy Caught the Golden State Killer
    2026/07/10
    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 laterHow investigators decide which biological samples may still have forensic valueThe Zodiac Killer case and what would be needed to consider it scientifically solvedThe challenges of DNA evidence from stamps, envelopes, letters, and other handled itemsWhy finite evidence creates difficult decisions about testing now versus waiting for future technologyThe role of DNA in linking the Golden State Killer crimes before a suspect was identifiedWhy traditional forensic DNA databases did not solve the caseHow investigative genetic genealogy helped generate a new leadHow distant relatives’ DNA can help identify someone who never uploaded their own DNAThe scientific and investigative process behind building genealogical trees from crime-scene DNAHow investigators narrowed family branches until Joseph DeAngelo became a viable suspectReconstructing Marilyn Monroe’s final hours using virtual crime-scene technologyWhat 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’s Cold Cases by Paul HolesSmall Town Dicks podcastCelebrity Crime Scene: Marilyn Monroe, available on Hulu Relevant DNA Today Podcast Episode #326: How DNA Solves Crimes: The Forensic Science Behind True Crime #131: DTC Series: Libby Copeland on Law Enforcement Use of Genetic Databases #130 DTC Series: Anne Greb on 23andMe Connect 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 episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation...
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    24 分
  • #403 Genetic Counseling Boards Prep: ABGC’s New Resources

    #403 Genetic Counseling Boards Prep: ABGC’s New Resources
    2026/07/17
    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 assessWhere candidates should begin when navigating ABGC’s certification and exam resourcesHow to use the exam content outline when developing a study planWhy ABGC created its new CGC self-study guideHow candidates can use the self-study guide alongside the approved referencesWhat candidates can expect from ABGC’s new student webinarHow questions for the certification exam are written and reviewedWhat makes a strong “one best answer” board-exam questionHow ABGC evaluates questions for accuracy, relevance, fairness, and justice, equity, diversity, and inclusion considerationsWhat has changed in the updated ABGC practice examinationHow closely the practice exam reflects the structure and reasoning required on the certification examHow candidates should interpret their practice-exam resultsHow the passing standard for the certification exam is determinedPreparation steps candidates should take before exam dayEncouragement and next steps for candidates who do not pass on their first attemptHow 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) websiteIntroducing the New CGC® Logo & Digital BadgeABGC Certify Eligibility RequirementsCertification Process, Exam and FeesNeed-Based Certification Scholarship ABGC CGC Exam ResourcesCandidate Guide (Start here)Exam Content OutlineSelf Study Guide Syndromes and Disorders List on Pages 19 and 20 Practice ExamExamination References Exam Performance Taskforce ReportStudent 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, administration, costs, financial assistance, equity, and available resources.#235 Genetic Counseling History: ABGC Formation — Seasoned genetic counselors Ann Walker and Ed Kloza share about the formation of ABGC#138 Genetic Counseling Boards Advice — Three genetic counselors share their experiences preparing for and taking the board exam, including study schedules, review courses, subject areas, resources, and balancing studying with work.#126 Adam Buchanan on ABGC Boards Exam — Then-ABGC President Adam Buchanan answers listener questions about the exam’s structure, content, study resources, scoring, results, testing accommodations, cost, and inclusivity.#57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst opens up about how Lynch syndrome has affected her and her family. This episode was mentioned towards the end of the interview. Connect: 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 ...
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    31 分
  • #404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane

    #404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane
    2026/07/24
    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 careWhy Tyler and his wife, Renae, initially believed the lump was a lipomaHaving his concerns dismissed and continuing to pursue answersTyler’s first reaction to his breast cancer diagnosisThe embarrassment and stigma surrounding male breast cancerWhy he ultimately decided to share his story publiclySymptoms and physical changes men should pay attention toHow masculinity and “toughing it out” can delay medical careThe importance of self-advocacy and early detectionHow cancer treatment differs from the physical demands of wrestlingRedefining strength during illness and recoveryGenetic counseling and germline genetic testing after a male breast cancer diagnosisThe 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 diagnosisTyler and Renae’s upcoming podcast, MANE AF Resources & Links Tyler Mane’s Breast Cancer Announcement Instagram Video@TheRealTylerMane@ManeAFpod NCCN Patient Resources for Breast CancerNCCN 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 MenThe 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 CounselorThe 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 TestingGenetic 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, DanielleActress 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 PanelThis 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 CancerAttorney and BRCA advocate Erika Stallings and genetic counselor Dena Goldberg discuss breast cancer genetics, BRCA1 and BRCA2, racial disparities in cancer genetics, and improving access to genetic counseling and testing in the Black community. #165 Sequencing for Cancer Risk with Sandra BalladaresScientist and breast cancer survivor Dr. Sandra Balladares shares her experience with breast cancer and discusses how genomic sequencing can identify inherited cancer risk, particularly within historically underserved populations. #81 Irina Brooke on BRCA2Patient advocate Irina Brooke shares her BRCA2 journey, including genetic counseling, genetic testing, cancer-risk management, and supporting people and families affected by hereditary cancer. #25 Hereditary Cancer Syndromes with Ellen Matloff and Amy Byer ShainmanHereditary cancer experts Ellen Matloff and Amy Byer Shainman discuss BRCA-associated cancer risks, genetic counseling, genetic testing, breast and ovarian cancer, and the documentary Pink & Blue, which includes the experiences of men affected by breast cancer....
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