Invitae and the Muscular Dystrophy Association (MDA) are partnering to expand access to free genetic testing and post-test counseling in the United States and Canada, with a goal of more quickly diagnosing muscular dystrophy.
Testing is offered at no charge through Invitae’s Detect Muscular Dystrophy program, and is sponsored by various biopharmaceutical companies.
It is available to people suspected of having MD through that program at the MDA’s Care Center Network of 150 leading health clinics in the U.S.
Studies have indicated that no-charge testing programs help increase access to, and utilization of, genetic testing, which can slash the time to diagnosis by as much as two years. A correct diagnosis gets patients into treatment earlier, helps with an understanding of how their disease is likely to progress, and helps physicians in giving best possible care.
“Muscular dystrophy consists of many disorders with overlapping symptoms that often make diagnosis more challenging,” said Lynn O’Connor Vos, the MDA’s president and CEO, in a press release.
“Genetic testing can help accelerate diagnosis and treatment of conditions such as Duchenne muscular dystrophy or Becker muscular dystrophy, which enables clinicians to begin identifying treatment options sooner,” O’Connor Vos added. “By bringing this program to our care centers, we can make it easier for patients to get tested, moving them one step closer to the care they need.”
Affecting 1 of every 4,000 to 5,000 individuals, MD is a group of more than 30 inherited genetic diseases. Collectively, these conditions are caused by mutations in key genes responsible for producing and maintaining muscle tissue.
Clinicians can use several tests to diagnose MD. In general, such tests consist of analyzing cells in a blood, tissue, or saliva sample for specific DNA mutations known to be associated with a given disease or condition.
Each MD type is thought to have a unique genetic mutation, although not all of its variants are currently known. When accessible, testing can range from about $100 to more than $2,000, depending on type and complexity.
The Detect Muscular Dystrophy program also offers free post-test genetic counseling through GeneMatters to help patients understand test results and make optimal healthcare decisions. Family members of patients with disease-associated mutations are also encouraged to be tested.
“Genetic testing can expedite making an accurate diagnosis, facilitate earlier interventions, allow genetic counseling of family members, and support clinical research into muscular dystrophies,” said Robert Nussbaum, MD, Invitae’s chief medical officer.
“We’re proud to work with MDA to increase access to early genetic testing among patients suspected of having muscular dystrophy. Their network of care centers offers patients expert care and easier access to genetic testing to inform that care,” Nussbaum added.
Patients enroll in Invitae’s sponsored testing programs through their clinician. The MD program is available for those suspected of having some form of the disease, and who meet eligibility requirements such as a family history or progressive muscle weakness. The company stresses that the program is not meant for carrier screening or unaffected individuals.
Third parties and commercial organizations may receive de-identified patient data, as well as contact information for participating healthcare professionals. Clinicians are not obliged to use or support any other Invitae product or service.
Invitae opened its MD testing program for U.S. and Canada residents last year through a network of genetic testing programs.
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