The no-charge genetic testing program Detect (Invitae, San Francisco, CA) for both muscular dystrophies and lysosomal disorders is now available for enrollment. The pro-gram offers participants testing and posttest genetic counseling; some programs also offer fol-low-up testing for relatives of those found to have specific gene variants.
Through an informed-consent process, individuals enroll in the program through their clinician, who also receives test results to promote appropriate follow-up care. Deidentified test results are shared with the commercial sponsors of the programs.
“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 Kris-tin Stephenson, chief advocacy and care services officer of the Muscular Dystrophy Association. “Genetic information not only has the potential to impact and even personalize clinical man-agement of diseases but can help connect patients and their families to patient advocacy or-ganizations and other resources to support them in their journey.”
“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 Rob-ert Nussbaum, MD, chief medical officer of Invitae. “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 ac-cess and cost to high quality genetic testing in those areas where its use can speed diagnosis and improve outcomes.”
Invitae’s network of sponsored, no-charge genetic testing programs, where the cost of testing is underwritten by sponsors, was created to address barriers to testing for patients who either do not or cannot rely on insurance coverage. Programs also including testing for children with unprovoked seizures, people with suspected primary cardiomyopathies or arrhythmia, and adults with prostate cancer.
Elina Nikkola, PhD; and Vishal Shah, MD
Vishal Shah, MD; Dawn Eliashiv, MD; and Melissa Reider-Demer, DNP, MN, CNP
Swarna Rajagopalan, MD