Comprehensive Care for hEDS/HSD Should Include a Genetic Counselor
hEDS and HSD patients don't belong in the genetics clinic. That's the prevailing assumption, anyway.
The logic: there's no genetic test for hEDS, so what is a genetics clinic going to do for them? It's a reasonable question, but it conflates genetic testing with genetic counseling. They are not the same thing. GCs are trained to take a thorough family history, assess risk, and support patients through the complexity of uncertain, unknown, and complex diagnoses. For a population with a median diagnostic odyssey of 14 years, that has real value.
There's also a clinical case for genetic evaluation specifically. Research shows 26.4% of patients who clinically meet hEDS criteria actually have a different or additional underlying genetic disorder with distinct management implications. That's more than 1 in 4. Ruling that out is a genetics function. And for the majority where hEDS or HSD is the right call, the counseling still matters: inheritance patterns, what to watch for in family members, and finally, some answers after years of being told everything looks normal.
We are also, by training, genetic COUNSELORS. Education, support, and resources are our bread and butter. These patients carry significant emotional weight after years of being dismissed, misdiagnosed, and told their symptoms aren't real. If we aren't equipped to support them through that, who is?
Part of the problem is structural. In clinics where GCs and geneticists see every patient together, meeting the needs of this population gets increasingly complex. These patients need time, and traditional clinic models aren't always built for that. A GC-led model with geneticist oversight is faster, more accessible, and better suited for this population. Geneticists stay involved when they are needed most.
Over the course of 14 years, these patients are racking up significant medical costs, upwards of $21,000 above baseline per year. Much of it from testing that does not lead anywhere. Genetic testing costs a fraction of that. A GC visit even less. Get them in front of a GC earlier, get them to a diagnosis or at least a clearer picture of what they're dealing with, and literally everyone wins.
Sources:
Bogart, K. R., et al. (2025). Hypermobile Ehlers-Danlos syndrome: Diagnostic challenges and the role of genetic testing. Genes, 16(5), 530. https://doi.org/10.3390/genes16050530
Gensemer, C., et al. (2024). Estimates of the excess cost burden of Ehlers-Danlos syndromes: A United States MarketScan® claims database analysis. Frontiers in Public Health, 12, 1365712. https://doi.org/10.3389/fpubh.2024.1365712
