How social media helps us study rare diseases

Mayo Clinic says online networking provides a novel way to recruit participants who are notoriously hard to track down when studying rare diseases.

Elizabeth Armstrong Moore
Elizabeth Armstrong Moore is based in Portland, Oregon, and has written for Wired, The Christian Science Monitor, and public radio. Her semi-obscure hobbies include climbing, billiards, board games that take up a lot of space, and piano.
Elizabeth Armstrong Moore
2 min read
Mayo Clinic was able to recruit via this Web site more than the number of participants they could study. Screenshot by Elizabeth Armstrong Moore/CNET

When a team of cardiologists wanted to better understand an extremely rare heart condition called spontaneous coronary artery dissection (SCAD), they reached out to possible participants on patient-run social-media sites dedicated to women's heart health.

It was something of a shot in the dark, but Mayo Clinic cardiologist Sharonne Hayes says that in doing so, her team stumbled on a novel way to recruit participants who are notoriously hard to track down.

"This is a completely different research model than Mayo Clinic is used to," said Hayes, whose findings appear in Mayo Clinic Proceedings. "Investigators here typically rely on the stores of patient information from the clinic. This was truly patient-initiated research."

Dr. Sharonne Hayes Mayo Clinic

It's tempting to say, "Well, duh," but paradigm shifts can be slow. And with research of rare diseases tending to be poorly funded, resources aren't exactly pouring into finding ways to improve patient recruitment.

For this particular investigation of SCAD, a traumatic cardiac event that can lead to cardiac arrest but only affects a few thousands Americans annually, a SCAD survivor actually inspired the study.

She contacted Hayes to learn how she might inspire more research into the condition that almost took her life. So Hayes and her research team basically told the survivor: if you recruit, we will study.

The survivor turned to her support community at WomenHeart and, less than a week later, had already recruited 18 patients--six more than the dozen they'd been trying to include in their pilot study.

Hayes and her team hope to create a virtual registry and DNA biobank of as many as 400 SCAD survivors and their relatives to help physicians analyze various treatment strategies and determine the genetic basis of the disease.

"Patient leadership in this is huge," says study co-author Lee Aase, director of Mayo Clinic's Center for Social Media. "Designing research protocols to study rare diseases and then recruiting enough patients to participate is extremely difficult for busy physicians, but patients with rare diseases are highly motivated to see research happen."