FSHD Society establishes genetic testing program to advance clinical trial readiness for facioscapulohumeral muscular dystrophy

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TestFSHD overcomes barriers by streamlining FSHD genetic testing for clinicians and patients

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"I came back with a positive blood test [for] FSHD Type 1. I am ready and willing to take part in any clinical trials as soon as I'm able.” - Patient 1

The FSHD Society has launched a direct-to-patient clinical diagnostic genetic testing program for facioscapulohumeral muscular dystrophy (FSHD). Called TestFSHD, the program’s aim is to overcome critical barriers that patients currently face when trying to obtain genetic testing for the rare, debilitating muscle disorder. FSHD is one of the most common hereditary muscle diseases and is thought to affect nearly one million individuals world-wide. Because of widespread lack of access to diagnostic testing, the majority of those who have FSHD have not had their diagnosis confirmed genetically.

The TestFSHD program ensures that eligible U.S.-based patients seeking a clinically approved genetic diagnosis of FSHD have a comprehensive and streamlined path to a genetic test. The program provides virtual genetic counseling, medical referrals, mobile blood-draws, and comprehensive FSHD1 and FSHD2 genetic testing. These services are provided by Genome Medical, a telemedicine company specializing in genetic counseling, with blood-draws by ExamOne phlebotomy service and genetic tests requisitioned from commercial diagnostic laboratories such as PerkinElmer Genomics and the University of Iowa Diagnostic Laboratories. Genome Medical counselors can also assist patients in filing claims with their health insurance.

“Confirmation of FSHD by a clinically approved genetic test remains one of the primary barriers impacting rapid recruitment into clinical trials,” explains Jamshid Arjomand, PhD, Chief Science Officer at the FSHD Society. “The TestFSHD program provides patients with a solution to overcome barriers to clinical trial eligibility, which should help streamline the recruitment process in upcoming trials.”

The lack of access to genetic testing had become an obstacle to progress because many treatments being developed for FSHD target the genetic cause of the condition. This means that patients must be genetically confirmed to have FSHD before they can enroll in clinical trials or, eventually, be eligible to receive such treatments. The Society noted that the low percentage of patients with genetically confirmed FSHD could undermine or slow down upcoming clinical trials. To build up a ‘trial-ready’ patient population, the FSHD Society analyzed the obstacles faced by patients, identified the partner companies to provide solutions, and established a process so each part of the system connected smoothly to the others.

The program has clearly had its intended impact. “I was diagnosed with FSHD over 11 years ago,” said one individual. “I recently completed the free genetic testing that you offered, and I met with the genetic counselor yesterday…I came back with a positive blood test [for] FSHD Type 1. I am ready and willing to take part in any clinical trials as soon as I'm able.”

The FSHD Society partnered with Arrowhead Pharmaceuticals, Avidity Biosciences, Dyne Therapeutics, Fulcrum Therapeutics and Pfizer to sponsor a pilot of TestFSHD, which made the testing free for the first 150 qualifying patients. “These partnerships demonstrate the enthusiasm of key stakeholders to collectively advance a trial-ready patient community in collaboration with the FSHD Society,” remarks Ken Khatava, Chief Growth Officer at the FSHD Society.

The sponsored, free phase of the program will end on October 31, 2022, but TestFSHD will remain in place to make it easy for patients and families to obtain clinical genetic testing, with the cost reimbursed by their health insurance or covered out of pocket. “The extreme difficulty of getting genetic testing for FSHD has long been a pain point in the patient journey,” explains Arjomand. “We are thrilled that TestFSHD empowers patients to obtain affordable genetic testing for themselves.”

To learn more, visit fshdsociety.org/testfshd

The FSHD Society is the world’s largest research-focused patient advocacy organization for facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent forms of muscular dystrophy. The Society has catalyzed major advancements and is accelerating the development of treatments and a cure to end the pain, disability, and suffering endured by one million people worldwide who live with FSHD. The FSHD Society has transformed the landscape for FSHD research and is committed to making sure that no one faces this disease alone. The Society offers a community of support, news, and information through its website at fshdsociety.org

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June Kinoshita
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