Invitae said it is offering for free its Detect genetic testing programs for four conditions: Muscular dystrophy, hereditary prostate cancer, familial cardiomyopathy and arrhythmia, and lysosomal storage diseases.
The free testing is being offered for conditions where testing is underused, with the goal of leading to earlier diagnosis and treatment, Invitae said.
In addition to testing, the Detect programs offer participants genetic counseling after their testing to help them understand test results and better inform their health decisions. Some programs also offer follow-up testing to family members of patients with genetic variants associated with disease to better understand their disease risks.
“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,” Robert Nussbaum, M.D., chief medical officer of Invitae, said in a statement.
Tests to be offered free include:
- Prostate cancer—A primary panel including 12 genes associated with prostate cancer. Clinicians can also choose to include seven genes that have preliminary evidence of an association with prostate cancer.
- Muscular dystrophy—Invitae’s Comprehensive Muscular Dystrophy Panel analyzes up to 56 genes associated with inherited muscular dystrophies.
- Arrhythmia and Cardiomyopathy—Invitae’s Comprehensive panel analyzes up to 53 genes associated with hereditary primary arrhythmia and/or cardiomyopathy, as well as syndromic causes of cardiomyopathy.
- Lysosomal storage diseases—A panel of up to 53 genes associated with lysosomal storage diseases. Invitae says the panel may be appropriate for those in whom a LSD is suspected due to abnormal lysosomal enzyme study, abnormal tissue biopsy or abnormal newborn screen.
The cost of testing will be underwritten by biopharma sponsors. Neurogene, for example, sponsors the Invitae Detect Lysosomal Storage Diseases program. The free, sponsored testing programs are intended to eliminate barriers to testing for patients who either do not have insurance coverage, or are not covered for the testing by their policies, according to Invitae.
Patients enroll in Invitae’s sponsored testing programs through their clinician. Sponsors receive de-identified information and contact information for participating clinicians, with Invitae saying that no patient-identifiable information is shared.
Participation in the programs is subject to patient notification and consent. Additional details, terms and conditions of the programs are available here.
“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,” added Kristin Stephenson, chief advocacy & care services officer of 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.”
