Our genetic testing program

Lowering barriers to genetic testing for FSHD

Currently, one of the eligibility criteria for volunteering in an FSHD clinical trial is positive confirmation of the disease by a clinically approved genetic test. Unfortunately, many patients and families who are trying to get tested have faced barriers, from doctors who don’t know how to order the test to insurance companies that balk at paying for it. The lack of accessible and affordable genetic testing is a disservice to patients as well as an obstacle to having a “trial-ready” community.

In response to this challenge, the FSHD Society, in collaboration with industry sponsors, has established a clinically approved genetic testing program for the FSHD community in the US. Our TestFSHD program will include certified genetic counseling and testing. Test results will become part of your medical record, which can help you to obtain services you need. In some instances, having the genetic diagnosis on your medical record could have an impact on the ability to obtain long-term disability insurance or life insurance. The genetic counselor can help you decide if genetic testing is right for you.

Are you eligible?

• This is a pilot program, and the free test is available only to the first 150 eligible participants 
• You must be between the ages of 18 and 65 and be a US resident
• You must have FSHD symptoms as determined by your doctor or based on a known family history of FSHD.

If you do not meet the criteria above, or if the Society's funding for this pilot program has run out, you can still get tested through the TestFSHD program. TestFSHD will continue to put the power to obtain a genetic test into the hands of patients. Genome Medical, our genetic counseling partner, offers affordable options for patients or can help you navigate coverage through your insurance plan. You can learn more on the TestFSHD portal.

The FSHD Society is grateful for the generous support from Arrowhead Pharmaceuticals, Avidity Biosciences, Dyne Therapeutics, Fulcrum Therapeutics, and Pfizer to make the TestFSHD program available to our community.

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Free genetic testing is also currently available as part of a research study through Peter Jones’ nonprofit organization, myfshd.org. For those who wonder if they may have FSHD, this can be a good option. However, it is still undergoing validation and does not yet satisfy existing eligibility criteria for clinical trials.