The FDA could require that some future treatments be allowed only for patients who have had a genetic test.įor a more in-depth understanding of whether you may wish to seek genetic testing for you and/or your family, please read our FAQs about genetic testing for FSHD by genetic counselor Julie Cohen, MSc.Some clinical studies or trials require that volunteers have their FSHD diagnosis confirmed by a genetic test.You and your family can make informed decisions about who else in the family should get tested, how the diagnosis affects family-planning, and so forth.Knowing your diagnosis for certain may help you plan for the future.You can avoid expensive and painful procedures (such as muscle biopsy and electromyography), as these are useful only for ruling out other conditions and do not confirm whether you have FSHD.The genetic test is definitive, especially if you have unusual symptoms that may cast some doubt on your diagnosis.Today, a doctor’s diagnosis is still perfectly valid, but there are some compelling reasons to also have a genetic test. For many doctors, the prevailing mindset has been that “there’s no treatment or cure,” so the added expense of having the diagnosis confirmed by a genetic test is not warranted. Usually, a doctor will diagnose facioscapulohumeral muscular dystrophy (FSHD) based on taking a family history and examining the patient for symptoms. This article explains why this is such an important advancement in FSHD testing, and also puts into the context of the bigger picture of how innovations in genetic testing can affect research and clinical trials. The test includes genomics support to your physician to explain what the test means for you and your family.The company offers a comprehensive test for 132 other neuromuscular conditions including FSHD Type 2 in addition to the FSHD Type 1 assay.This new test for FSHD Type 1 is expected to be 2-3 times less expensive than current alternatives.This is the first major innovation in FSHD genetic testing in nearly three decades to “reach the clinic”-available for your doctor to order.įor patients and families, this development has a number of advantages: Other companies and groups are likely to follow suit. A genetic test for FSHD is now being offered by PerkinElmer Genomics, a global company known for scientific and medical testing services. There are exciting new developments in FSHD genetic testing.
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