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
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Follow Dr. Poorvi Desai, MD on YouTube @drpoorvidesai
LINKS AND RESOURCES:
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