Monday Mar 30, 2026

Genetic Testing and hEDS: The Risks of Direct-to-Consumer Tests with Dr. Poorvi Desai

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