“Our clinic does not accept patients whose primary indication is hypermobility.” 

This statement reflects a rapidly growing number of genetics clinics across the United States. One study found in their sample that 18% of clinics turned away patients whose indication was hypermobility without vascular symptoms and more had specific policies regarding hypermobility (Boucher et al, 2025). Understandably, a patient showing only hypermobility is not a lot to go off for diagnosis and is not uncommon among the general population. However, as both a genetic counselor and someone diagnosed with hypermobile Ehlers-Danlos syndrome (hEDS), I find this statement a looming threat to care and access.

Yes, hEDS does not have a known genetic cause at this time; however, genetics clinics are often the only place someone can go to receive a diagnosis. Technically, this condition can be diagnosed by many doctors, GPs, rheumatologists, neurologists, and other professionals, but most doctors are either unfamiliar with the condition or unwilling to diagnose it. The average hEDS patient goes through around 15 clinicians to get answers (Halverson et al, 2023). This results in a long diagnostic odyssey: trips from doctor to doctor, a pile of unanswered questions and elevated medical bills.

I lost good health care coverage when I aged out of my parents’ plan and couldn’t afford to go to specialist after specialist for diagnosis. My mother, who had similar symptoms to me, agreed to go through the process to establish family history. It took her over a year and more than half a dozen specialists to finally be given a referral to genetics. This story is not uncommon in those living with connective tissue disorders. Many of us are shuttled from one doctor with no answers to another and back again. Reports have shown that, on average, it takes a median of 10 years to receive a diagnosis for hEDS (Wang, 2024). This doesn’t include those who don’t meet criteria and are shuttled into the overarching category of hypermobility spectrum disorder or those with rarer connective tissue disorders.

The rise in genetics clinics not taking referrals for hypermobility poses a threat not only to the psychological and financial well-being of these patients, but also a risk to their health. Many connective tissue disorders may start as just hypermobility and progress rapidly, even lethally. Unchecked vascular Ehlers-Danlos syndrome can result in major cardiac events as young as 14, and lifespan averaging around 43 (Demirdas, 2024). Clinics turning away patients for hypermobility-only referrals opens the doors for people to slip through the cracks.

Even without considering severe variations and diseases, those living with hypermobility are not typically seeking genetic information for the fun of it. These patients are reaching out for help in the last place they have hope for. Most of them have received no answers or explanations from any other doctor and are at the end of their rope. Hypermobility can come with chronic pain, comorbidities and decreased quality of life. Genetics clinics aren’t known to be cheap out of pocket or through insurance, especially for an indication such as hypermobility. Seeking out these clinics is a sign that a patient is desperate for answers that they are then being actively refused.

Although a genetics clinic may see hypermobility as a silly referral, hEDS effects run deep, affecting almost every body system, from digestion to immunology. A referral that states hypermobility as the main complaint may not be the end of the list. In my life experience, I’ve been desperate for answers to GI issues that resulted in me not being able to eat anything that wasn’t a bagel for months, chronic and debilitating pain, sudden hives and rashes, and more. Yet, my referral and my mother’s was simply listed as “hypermobility.”

One reason some clinics turn away hypermobility referrals is the number they receive. These referrals can overwhelm an already booked-out clinic that needs to see other cases that may be or feel more pressing. This is clearly a challenge on several fronts. Overworking genetics clinics would of course result in delay of care for those with life-altering or threatening conditions, loss of quality of care, burnout for genetics professionals, and financial burden on the hospitals that run these clinics. There are no easy answers to this issue beyond the well-known issues present in funding for our American health care system. Clinics need more geneticists and genetic counselors to meet demand, but are not considered profitable for the system they work in. Funding to public health is at the heart of this problem, as with many. That being said, people living with hypermobility who are seeking help are deserving of care and compassion from professionals.

Genetics clinics outright refusing patients referred for hypermobility is a looming concern I see spreading in health care. As more clinics adopt this stance, there are fewer and fewer places these patients can go, often to the point that there is no one to see in reasonable traveling distance. Creating health care deserts is against the best interest of the public and against our standing as genetic counselors.f

References

Boucher, L., Nestler, B., Groepper, D., Quillin, J., Deyle, D., & Halverson, C. M. E. (2025). An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes. Genetics in Medicine Open, 3.
https://doi.org/10.1016/j.gimo.2024.101960

Demirdas S, van den Bersselaar LM, Lechner R, Bos J, Alsters SIM, Baars MJH, Baas AF, Baysal Ö, van der Crabben SN, Dulfer E, Giesbertz NAA, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kempers MJE, Komdeur FL, Loeys B, Majoor-Krakauer D, Ockeloen CW, Overwater E, van Tintelen PJ, Voorendt M, de Waard V, Maugeri A, Brüggenwirth HT, van de Laar IMBH, Houweling AC.(2024) Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Circ Genom Precis Med. 17(3):e003978.
doi: 10.1161/CIRCGEN.122.003978.

Halverson, C. M. E., Cao, S., Perkins, S. M., & Francomano, C. A. (2023). Comorbidity, misdiagnoses, and the Diagnostic Odyssey in patients with Hypermobile Ehlers-Danlos syndrome. Genetics in Medicine Open, 1(1), 100812.
https://doi.org/10.1016/j.gimo.2023.100812

Wang, Y.-T., Jahani, S., Morel-Swols, D., Kapely, A., Rosen, A., & Forghani, I. (2024). Patient experiences of receiving a diagnosis of hypermobile Ehlers–Danlos syndrome. American Journal of Medical Genetics Part A, 194A:e63613.
https://doi.org/10.1002/ajmg.a.63613

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