CODED: Genetics

Changing The Trisomy 13 And 18 Narrative

Unfortunately and inaccurately, the phrase "incompatible with life" still shows up around trisomy 13 and trisomy 18, even as survival data, clinical experience, and professional guidance continue to evolve. We sit down with two leaders who have helped shape a more accurate and humane standard of care: Dr. John Carey, longtime clinical geneticist and SOFT co-founder, and Nick Holladay, president and CEO of the Support Organization for Trisomy (SOFT). We talk through what families were told decades ago, what has changed, and why the most important shift is simple but hard: replacing assumptions with evidence and individualized care planning. Dr. Carey walks us through the research and the real-world clinical changes, including growing openness to interventions like feeding support and selected cardiac surgery, alongside the essential role of pediatric palliative care teams that support families no matter what they choose. Nick shares what it’s like to lead SOFT in a moment where parent stories and clinician collaboration are accelerating change, including practical resources like trisomy 18 and trisomy 13 booklets, birth plans, and peer mentoring. We also get honest about why inconsistency still happens across hospitals, how bias and ableism can shape counseling, and what genetics professionals, OB teams, and neonatal providers can do to deliver accurate, balanced, up-to-date information from the first phone call. If you care about disability equity, patient-centered genetics counseling, or improving prenatal diagnosis experiences, this conversation is for you. Subscribe for more conversations at the intersection of genetics and ethics, share this episode with a colleague or friend, and leave a review to help more families and clinicians find these resources. Genetic Support Foundation: https://geneticsupportfoundation.org/ [https://geneticsupportfoundation.org/] Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/ [https://www.lettercase.org/]

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/ [https://jacksbasket.org/] Down syndrome Pregnancy: https://downsyndromepregnancy.org/ [https://downsyndromepregnancy.org/] Genetic Support Foundation: https://geneticsupportfoundation.org/ [https://geneticsupportfoundation.org/] Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/ [https://www.lettercase.org/]

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) [https://dredf.org] National Council on Disability Report: Quality-Adjusted Life Years and the Devaluation of Life with Disability [https://www.ncd.gov/assets/uploads/reports/2019/ncd_quality_adjusted_life_report_508.pdf] Show Transcript [https://www.buzzsprout.com/2455086/18776936-how-qalys-lives-of-disabled-people-and-what-we-can-do-about-it/transcript] Genetic Support Foundation: https://geneticsupportfoundation.org/ [https://geneticsupportfoundation.org/] Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/ [https://www.lettercase.org/]

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/ [https://geneticsupportfoundation.org/] Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/ [https://www.lettercase.org/]

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/ [https://geneticsupportfoundation.org/] Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/ [https://www.lettercase.org/]