Genetic Testing and hEDS: The Risks of Direct-to-Consumer Tests with Dr. Poorvi Desai
Zebra Talks: Living Your Best Bendy LifeShow Notes
Host Dr. Libby Hinsley welcomes Dr. Poorvi Desai, a board-certified hematologist-oncologist living with hypermobile Ehlers-Danlos syndrome (hEDS) and comorbidities. Dr. Desai explains genetic testing basics (single-gene, exome, and whole-genome sequencing), distinguishing somatic testing from germline inherited testing used for hereditary connective tissue disorders. She notes that 13 of 14 EDS subtypes have identified single-gene causes, but hEDS does not. They warn that direct-to-consumer genetic tests can be misleading, produce uncertain results, and may require retesting, emphasizing clinician-ordered, validated testing mainly to exclude other conditions like vascular EDS, and expressing hope for updated 2026 criteria and improved evidence-based care.
00:00 Welcome to Zebra Talks 00:36 Meet Dr Poorvi Desai 01:14 Poorvi’s Hypermobility Journey 03:47 Genetic Testing Basics 06:00 Germline vs Somatic Testing 08:24 How Sequencing Works Today 10:10 Why HEDS Lacks a Gene 10:37 HEDGE Study Findings 15:05 Polygenic Neuroimmune Model 18:05 Direct to Consumer Pitfalls 28:26 Using Testing to Exclude Types 32:08 Access Cost and System Gaps 34:49 Hope New Criteria and Treatments 39:10 Evidence Based Caution 41:10 Where to Find Dr. Desai 42:05 Final Thanks and Goodbye EPISODE LINKS & RESOURCES: Follow Dr. Poorvi Desai, MD on Instagram @drpoorvidesai Follow Dr. Poorvi Desai, MD on Substack @drpoorvidesai Follow Dr. Poorvi Desai, MD on YouTube @drpoorvidesai LINKS AND RESOURCES: Follow Libby Hinsley on Instagram @libbyhinsleypt Follow Libby Hinsley on Facebook Learn more about Libby Hinsley, How to Work with Her, or Join her Email List Leave a review on iTunes
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