Invitae has opened a program offering free genetic testing and post-test counseling to people suspected of having diseases that include muscular dystrophy (MD) under a partnership with pharmaceutical firms. The goal is to promote early diagnosis and treatment.
The initiative, called Detect, targets disorders for which testing is underutilized and can improve diagnosis and treatment, Invitae said in a press release. It was created to address barriers to testing for those who either lack insurance or can’t depend on coverage. When accessible, testing can range from about $100 to more than $2,000, depending on type and complexity.
“Helping remove or reduce cost as a barrier and enabling faster, accurate diagnosis is critical for families searching for answers and navigating what can be a diagnostic odyssey,” said Kristin Stephenson, chief advocacy & care services officer for the Muscular Dystrophy Association.
“Genetic information not only has the potential to impact and even personalize clinical management of diseases, but can help connect patients and their families to patient advocacy organizations and other resources to support them in their journey,” Stephenson added.
In addition to muscular dystrophy, enrollment is open for prostate cancer, lysosomal storage diseases, and cardiomyopathy and arrhythmia. Some of the disease-specific programs also provide follow-up testing to relatives of patients with disease-associated genes to better understand their risk.
Performed by Invitae, a medical genetics company, the tests are offered in the United States and Canada through a network of genetic testing programs sponsored by biopharmaceutical companies. 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.
The Invitae Detect Muscular Dystrophy 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.
Many forms of MD have overlapping clinical features making diagnosis difficult, the release said, adding that genetic testing can shorten the time to diagnosis and help prevent misdiagnosis.
“Genetic testing can offer tremendous benefits to patients, clinicians and the broader medical community by expediting diagnosis, facilitating earlier interventions, accelerating clinical trial recruitment, and providing real-world data insights into many devastating diseases,” said Robert Nussbaum, MD, Invitae’s chief medical officer.
“Genetic information isn’t used as much or as early as it should be. Our goal is to help facilitate earlier testing by removing barriers of access and cost to high-quality genetic testing in those areas where its use can speed diagnosis and improve outcomes,” he added.
Duchenne muscular dystrophy is the most common childhood onset form of muscular dystrophy, with a prevalence of about 1 in every 3,000 to 5,000 live male births. Age of onset is usually between 3 and 5. As a whole, muscular dystrophies affect 1 in every 4,000 to 5,000 people.
For more information about the program, visit this site.
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