ONCE UPON A GENE - EPISODE 262- GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman

In this episode of Once Upon a Gene, I’m joined again by rare mom and powerhouse advocate Gay Grossman. Gay works at GeneDx—home to one of the largest clinical genomic databases—and she’s here to share two exciting updates that could change everything for rare families and patient advocacy orgs.

We talk about:

  • GeneDx’s new commitment to the cerebral palsy community and why every CP diagnosis deserves a genetic test

  • How families can access exome and genome testing through telehealth

  • The launch of the Discover Snapshot, a tool designed to help rare orgs find, understand, and grow their communities using real genomic data

We also dive into why many CP, autism, and epilepsy diagnoses are just the beginning—and how getting to the root cause can open doors to treatments, clinical trials, and life-changing connection.

🔗 Resources & Links:

Key Topics:

  • Genetic testing access and equity

  • Ending the diagnostic odyssey for CP

  • Empowering patient advocacy orgs with data

  • How to use genetic diagnoses to unlock treatment options

  • The power of community and connection

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