4月1日

World Down Syndrome Day: Reframing a Diagnosis with Jack's Basket

The first seconds after a Down syndrome diagnosis can echo for a lifetime and the difference often comes down to a few words. We sit down with Carissa Carroll, founder of Jack’s Basket, and Lauren Talhelm, Jack’s Basket Medical Education Coordinator, to talk about what families actually experience when trisomy 21 is identified at birth or through prenatal screening, and why the “bad news” framing can quietly shape fear, stigma, and expectations. Carissa takes us back to Jack’s birth diagnosis and the isolation that can hit when the message is delivered abruptly or without warmth. Lauren shares her perspective as both a mom to a child with Down syndrome and a sibling to a sister with Down syndrome, plus what it meant to receive a Jack’s Basket packed with trusted resources and a sense of community. Along the way, we unpack the phrases that families never forget, what parents often worry about first, and how a simple congratulations can open the door to attachment and hope. We also dig into clinician training, including Jack’s Basket’s free CME curriculum on communicating unexpected news, and the real system problems families face today like learning results through a patient portal notification or voicemail. If you work in obstetrics, MFM, pediatrics, NICU care, or genetic counseling, you’ll leave with practical, patient centered communication ideas you can use immediately and a clearer sense of how to connect families to support from day one. Subscribe for more conversations at the intersection of genetics, disability rights, and lived experience, then share this episode and leave a review to help more families and providers find it. Jack's Basket: https://jacksbasket.org/ Down syndrome Pregnancy: https://downsyndromepregnancy.org/ Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

52 分鐘

3月19日

How QALYs Devalue Lives of Disabled People And What We Can Do About It

A single number deciding who gets care sounds efficient—until that number discounts your life. We dive into the world of QALYs (quality-adjusted life years) with attorney and policy leader Sylvia Yee from the Disability Rights Education and Defense Fund to unpack how “objective” health economics can quietly devalue disabled people, shape coverage decisions, and ripple through prenatal testing and public policy. We break down how the EQ-5D survey compresses life into five domains—mobility, self-care, usual activities, pain, and anxiety or depression—then turns responses into a score that reduces the worth of a disabled person’s year to a fraction. You’ll hear why valuations often come from the general public, not people living with the conditions, and how time trade-off and standard gamble questions import fear, stereotypes, and a myth of “perfect health” into budgets. From prenatal screening scenarios that frame disability as a loss to cross-country differences rooted in access and culture, we trace how bias becomes math and math becomes policy. The conversation turns to COVID-19, where crisis standards and triage laid bare the stakes: limited beds and ventilators, snap judgments about life expectancy and “quality,” and real denials of care. We discuss the guardrails that helped—ADA, Section 504, and Office for Civil Rights guidance—and why proactive policy beats after-the-fact fixes. Then we explore better paths forward: multi-criteria decision-making that centers patient-reported outcomes,; research funding for fairer methods; transparent deliberation; and leadership from people with disabilities at every step. If you care about health equity, prenatal ethics, disability rights, or how insurers decide what gets covered, this is a clear-eyed, practical guide to moving beyond one-size-fits-all metrics. Listen, share with a colleague, and tell us: what should count when we measure value in healthcare? Subscribe, leave a review, and join the conversation so more people can find this work. More information: Disability Rights Education and Defense Fund (DREDF) National Council on Disability Report: Quality-Adjusted Life Years and the Devaluation of Life with Disability Show Transcript Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

50 分鐘

2025/12/31

Echoes Of Eugenics In Modern Tech

"Super babies," subway ads, and “ best baby” promises are grabbing headlines, but the story underneath is older and more complicated. We sit down with seasoned genetic counselors Laura Hercher and Bob Resta to unpack how early eugenic ideas are resurfacing through modern pronatalism, IVF add-ons, and polygenic embryo selection—now marketed as responsible parenting and better public health. The conversation pulls apart the science, the sales pitch, and the social stakes. We start with a clear primer on positive and negative eugenics and how today’s rhetoric reframes “optimization” as health while centering IQ and status. Laura and Bob explain what preimplantation testing can do for known single-gene conditions and why polygenic scores for complex traits fall short, especially between sibling embryos. They detail the gaps in predictive power, the ancestry biases, and the way slick messaging leverages parental fear. We explore the costs and emotional toll of IVF, the push to make embryo screening a default choice, and the subtle shift from autonomy to judgment—decline testing and any “bad luck” becomes “earned.” The stakes go beyond the lab. We talk about disability, dignity, and how lives exceed a genome. Culture and policy shape outcomes as much as DNA—funding, inclusion, and real support matter. We examine the tech elite’s fixation on IQ, the comfort of genetic determinism for the newly powerful, and the risks of chasing outliers like “tallest,” “smartest,” or “chillest” as if those scores define worth. Throughout, we highlight the counselor’s role: translate limits honestly, differentiate risk reduction from speculative enhancement, and resist hype with clear, humane language. If this topic hits home, share the episode, rate the show, and send us your questions. Please consider an end-of-year gift to support our ethics work, free educational resources for patients and providers, and access to genetic counseling. Your voice and support help shape a future that welcomes more kinds of people, not fewer. Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

1 小時 7 分鐘

2025/12/03

Holiday DNA Deals Or Pandora's Box

Holiday sales make DNA kits look like shortcuts to certainty, but the fine print tells another story. We sit down with genetic counselor and rare disease advocate Devin Shuman to pull back the curtain on direct-to-consumer genetics—how “raw data” portals overwhelm families and how risks interpreted as conclusive results quietly reshape medical records and care. Together we map the real differences between consumer reports and clinical-grade testing: phenotype-driven interpretation, rigorous variant curation, and a plan that aligns with your health questions. Devin shares vivid cases—from anxiety-inducing “cancer” flags to companies that market tests for conditions without validated genes—and offers a practical checklist of red flags: one-click add-on reports, “for entertainment only” disclaimers next to health claims, aggressive advertising to parents, and vague data policies. We also dig into the murky “physician-mediated” loophole, why certifications don’t guarantee sound interpretation, and how third-party browsers amplify confusion with AI-written summaries and contradictory variant notes. Access and equity are front and center. We talk tele-genetics, how to find qualified help even in “genetic deserts,” and why a short, focused clinical report can be more valuable than a sprawling portal. The librarian metaphor brings it home: you deserve a guide who knows which shelf matters, not a maze of unread books. We close with concrete steps to protect families and push for change—how to report misleading products to the FDA and FTC, and why supporting the Access to Genetic Counselor Services Act (HR 6280) can expand counseling access nationwide. If you’ve been tempted by a holiday DNA deal or you’re navigating a diagnostic odyssey, this conversation gives you clarity, language to advocate for yourself, and safer options that respect your goals. Subscribe, share this episode with someone who needs it, and leave a review with your biggest question about genetic testing so we can tackle it next. Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

1 小時 4 分鐘

2025/09/17

Beyond Headlines: Down Syndrome and CRISPR

What happens when scientific discoveries collide with sensationalist headlines? When Japanese scientists published research showing they could remove the extra copy of chromosome 21 in isolated skin cells, media outlets quickly proclaimed: "Could Down syndrome be eliminated?" These dramatic claims not only misrepresented the actual science but sparked legitimate concern among people with Down syndrome and their families. Dr. Nicole White, principal investigator for Down Syndrome Achieves, and Dr. Meredith, both mothers of people with Down syndrome, join us to unpack what's really happening with this CRISPR technology. The reality? While researchers removed the extra 21st chromosome from some cells in a lab setting, we're light-years away from "eliminating Down syndrome" - and that's not the goal most scientists are pursuing or that society would approve for the technology. We dive deep into how CRISPR works, why isolated skin cells in petri dishes are dramatically different from living human beings, and the staggering technical challenges that make this technology far more limited than headlines suggest. What emerges is a more nuanced story about precision medicine that could potentially address specific health conditions associated with Down syndrome rather than attempting to "cure" a genetic difference that many people consider central to their identity. The conversation raises profound questions about media responsibility, scientific ethics, and who gets to decide research priorities. As Dr. White explains, "Any of this needs to be done with input from the community, with that careful care and stepwise approach and acknowledging all of the risks and what didn't work." We explore how sensationalist reporting robs individuals with Down syndrome of the opportunity to evaluate research objectively and reinforces harmful stereotypes that devalue their lives. Whether you're fascinated by genetic technology, concerned about disability rights, or simply want to understand how to read scientific news more critically, this episode offers valuable perspective on one of the most misunderstood genetic research stories of recent years. Join us as we separate hype from hope and explore what's truly possible - and ethical - in genetic research. Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

43 分鐘

2025/09/02

Genetic Counseling Reimbursement: Challenges and Solutions for Patient Access

Think billing for genetic counseling services is just about paperwork and numbers? Think again. In this eye-opening episode, we pull back the curtain on one of the most critical yet overlooked challenges facing genetic counselors today—getting fairly paid for their expertise. Joined by billing expert Brian Reyes, MS, CGC from UT Southwestern Medical Center (speaking in his personal capacity), we dive into the perfect storm of obstacles preventing genetic counselors from being properly recognized and reimbursed. From outdated Medicare policies to missing dropdown menus in insurance systems, these seemingly small administrative issues create massive barriers to patient care. Brian shares his journey from billing-avoidant genetic counselor to passionate advocate, offering a masterclass in navigating these complex systems. The conversation reveals a surprising truth: when genetic counselors can reach insurance decision-makers, they often find allies who understand the value genetic counselors bring to appropriate testing and patient care. The real challenge? Getting past gatekeepers to have these crucial conversations. We explore the new CPT code 96041 that finally recognizes the substantial behind-the-scenes work genetic counselors perform, and why this matters for sustainable practice. Most powerfully, we reframe billing not as a tedious administrative task but as a fundamental equity issue. When genetic counseling centers don't bill for their services—whether through grant funding or giving up on reimbursement—they may inadvertently perpetuate a system where vulnerable populations lose access to critical genetic services. As Brian passionately argues, "Are we leaving money on the table that should rightly belong to the healthcare system for providing that service?" Ready to advocate for change? Listen now to understand how the Access to Genetic Counseling Services Act could transform genetic counseling accessibility nationwide, and what steps you can take today to improve recognition and reimbursement in your practice. Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

49 分鐘

2025/05/27

Medicaid and the Devastating Ripple Effect of Budget Cuts on People with Disabilities

The House just passed what President Trump calls the "Big Beautiful Bill," and its implications could be devastating for millions of Americans who depend on Medicare and Medicaid. As this massive budget reconciliation bill heads to the Senate, Katie and Stephanie break down how its complex provisions could trigger automatic cuts to these essential programs despite promises to protect them. For people with disabilities, the stakes couldn't be higher. Many Americans don't realize that crucial supports like home and community-based service waivers are considered "optional" programs for states to fund - despite being lifelines that make community participation possible. When states face budget constraints from restricted federal matching funds, these services become vulnerable targets. Dr. Meredith shares her 17-year wait to secure services for her son with Down syndrome, illustrating the already overwhelming barriers families face to access and maintain these supports. The podcast reveals a troubling historical context: institutional care remains the legal default for people with disabilities, with community-based options existing only as "waivers" from this outdated model. Despite being more humane and cost-effective, these critical services could face cuts while the bill simultaneously increases tax exemptions for the ultra-wealthy. This episode serves as both an urgent call to action and an educational resource about how Medicaid waivers function. Listeners will gain clarity on the differences between Medicare and Medicaid, understand the bureaucratic gauntlet families navigate to access services, and learn concrete steps to advocate with their senators and governors before it's too late. The message is clear: society's treatment of its most vulnerable members reflects its true values, and now is the time to stand up for inclusion and support. Call your senators today at 202-224-3121 to make your voice heard about this legislation that could impact millions of Americans with disabilities and their families. CBO Letter about Medicare and PAYGO Big Beautiful Bill Text CBO Score Committee for a Responsible Federal Budget Analysis Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

32 分鐘

2025/04/09

23andMe's Bankruptcy: What It Means for Your DNA Data

When 23andMe announced its bankruptcy filing in early 2024, it wasn't just the end of a once-promising business – it raised profound questions about the future of millions of Americans' genetic data and the direct-to-consumer testing industry itself. In this deep dive, we're joined by genetic counselor Austin McKittrick to unpack what happened to this genetic testing giant that went from a $6 billion valuation to bankruptcy. We trace 23andMe's journey from its 2006 founding through its regulatory battles with the FDA and examine the complex privacy issues surrounding genetic data ownership when companies fail or change hands. Austin shares his personal experience using 23andMe, offering an insider perspective on both the benefits and limitations of these tests. We discuss troubling scenarios where incomplete genetic testing can create a dangerous false sense of security, particularly with tests like the limited BRCA variant panel that misses the vast majority of clinically significant mutations. The conversation explores the broader implications for consumers: How might life insurance companies access and use genetic information? What happens when scientific findings based on customer data are commercialized in potentially discriminatory ways? And most importantly, what guardrails should exist to protect people's genetic information? Whether you're one of the 15 million people who've used 23andMe or you're simply curious about the privacy implications of our increasingly genetic future, this episode provides critical context for understanding how your most personal data might be used. Connect with a genetic counselor if you've taken a direct-to-consumer test and have questions about the completeness of your results or what they might mean for your health. Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

41 分鐘

2025/03/20

Celebrating World Down Syndrome Day with Andy and Will

Today, Katie and Stephanie celebrate World Down Syndrome Day by interviewing Stephanie's son, Andy, and his support staff, Will, about what life is like for people with Down syndrome and how support staff help people with disabilities to access the world and meaningfully engage with their communities. Find out what they do on normal days, who they serve, and what they think is important for you to know about Down syndrome. Please consider making a donation to the Genetic Support Foundation to keep supporting this podcast and our organization that provides free resources about Down syndrome and other genetic conditions to new and expectant parent every day. Resources: Andy Meredith Photography Coach Andy by Leana Conway Lettercase National Center for Prenatal and Postnatal Resources Lettercase Bookstore (20% off through May 24, 2025) Down Syndrome Pregnancy National Down Syndrome Society National Down Syndrome Congress MDSC National First Call Center Ruby's Rainbow Jack's Basket Rising Kites The Lucky Few Podcast Parallels in Time: A History of Developmental Disabilities Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

25 分鐘

2025/02/24

Understanding Medicaid's Crucial Role for People with Disabilities

Join us as we explore the vital role Medicaid plays for individuals with disabilities and genetic conditions in our latest podcast episode. With heartfelt stories from families navigating the complexities of disability support, we dive into the importance of advocacy. This episode features insights from seasoned advocates and personal anecdotes that highlight how Medicaid is more than just insurance; it is a lifeline that ensures essential services are accessible to people with disabilities. Listeners will gain valuable knowledge about the history and present state of Medicaid, alongside actionable strategies for advocating for policy changes. We also address the pressing need for engagement in legislative issues affecting individuals with disabilities, emphasizing the role of storytelling in advocacy. Our conversation culminates in a call to action for audiences to share their experiences and engage with their representatives. We believe that every voice matters in the fight for equitable access and support for all. Tune in, share your thoughts, and get inspired to make a difference! Subscribe, leave a review, and consider supporting our work at the Genetic Support Foundation. Call to Action: To express your support for Medicaid, you can use the 5 Calls App, call the Capitol Switchboard at (202) 224-3121, or email or visit your representative (https://www.house.gov/representatives/find-your-representative). Just say, "We understand the value of Medicaid for people with disabilities and want you to continue funding this important program." Correction: The integrated, competitive employment (not unemployment) rate for people with intellectual and developmental disabilities is currently about 16%. Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

34 分鐘

第 1 季第 1 集預告

Introduction

Genetics is reshaping healthcare and society faster than ever—but what does it really mean for professionals, individuals, families, and communities? Coded dives into the biggest questions at the intersection of genetics, healthcare policy, bioethics, and disability rights. Join hosts Katie Stoll, MS, CGC, genetic counselor and Executive Director of Genetic Support Foundation (GSF), and Dr. Stephanie Meredith, GSF Development Director and Supervisor of the Lettercase National Center for Prenatal and Postnatal Resources, as they unpack emerging genetic technologies, ethical dilemmas, and lived experiences. From heritable genome editing to the realities of genetic testing, no topic is off-limits. Whether you're a healthcare professional, policymaker, disability advocate, or just curious about how genetics is changing the world, join us as we explore these ethics in genetics. Subscribe to Coded now—wherever you get your podcasts! Genetic Support Foundation: https://geneticsupportfoundation.org/ Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/

5 分鐘

CODED: Genetics

集數

World Down Syndrome Day: Reframing a Diagnosis with Jack's Basket

How QALYs Devalue Lives of Disabled People And What We Can Do About It

Echoes Of Eugenics In Modern Tech

Holiday DNA Deals Or Pandora's Box

Beyond Headlines: Down Syndrome and CRISPR

Genetic Counseling Reimbursement: Challenges and Solutions for Patient Access

Medicaid and the Devastating Ripple Effect of Budget Cuts on People with Disabilities

23andMe's Bankruptcy: What It Means for Your DNA Data

Celebrating World Down Syndrome Day with Andy and Will

Understanding Medicaid's Crucial Role for People with Disabilities

Introduction

預告片

Introduction

簡介

資訊