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/

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/

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/

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/

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/

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/

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/