We are entering a time of great hope for individuals with FSH muscular dystrophy, as new treatment approaches target the root genetic cause of the disease. But this means that people will need a genetic test for FSHD in order to participate in clinical trials and to be prescribed these treatments (once they get approved by the FDA).
We need to know more about your experiences with genetic testing so that we can help companies and academic researchers who are working to improve genetic tests.
The currently available genetic test is based on decades-old technology called a Southern blot. The technique is time- and labor-intensive, and so the cost is high, around $2,000 to 3,000 per test. If your insurance does not cover the cost, that’s a big hit to the wallet—even more so if you have other family members who wish to get tested. Even if finances are not an obstacle, many patients have difficulty finding a doctor who is willing and able to order the testing.
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The current approach to genetic testing is only set up to provide a yes-no answer to the question, does this individual have FSHD? But scientists would like to collect more genetic information to see if they can find other variations in genes that could explain disease severity. Right now, this type of analysis is only done in research labs and requires a separate study, patient recruitment outreach and re-doing the original genetic testing from scratch. If more comprehensive analysis could be done during routine diagnostic testing, it would not only save time and resources, but it would provide invaluable information from the get-go. It might help us better predict the course of the disease in specific individuals. It could reveal new strategies to treat the disease.
This is why the FSHD Society is partnering with companies and academic researchers to validate new technologies for diagnosing FSHD—faster, cheaper, and more completely. As one of the key projects of our FSHD Therapeutic Accelerator, our genetic diagnosis initiative is a no-brainer. It will benefit patients and families directly while bringing important new scientific insights.