Invitae’s Detect programs breakdown barriers to genetic testing and accelerate patient diagnosis
Genetic testing is underutilized in the diagnosis and treatment of diseases, even in conditions like cancer and rare diseases where its utility is well-understood to help speed diagnosis, guide clinical care and inform clinical trial eligibility. As a result, patient diagnosis is delayed, clinical trial enrollment can be slow, access to approved therapies remains limited and patient care is negatively impacted.
Removing cost as a barrier and enabling faster, accurate diagnosis is critically important for families searching for answers and navigating what can be a long path to diagnosis. Genetic information not only has the potential to impact and even personalize disease management, but can help connect patients and their families with patient advocacy organizations and resources to support them.
Sponsored genetic testing programs expedite diagnosis and increase access to treatment options. That’s why medical genetics company Invitae offers sponsored, no-charge genetic testing through its Detect programs.
"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 Dr. Robert Nussbaum, Invitae 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."
Patients can be tested through Invitae’s sponsored testing programs by visiting their clinicians or by connecting with a clinician online. They receive post-test genetic counseling to explain their test results and help them make informed healthcare decisions. All of the Detect programs also offer follow-up testing to family members of patients with genetic variants associated with the disease to help them better understand their own disease risks.
In these programs, sponsors cover testing costs to allow patients who either do not or cannot rely on insurance coverage to get the testing they need. Not only do these programs accelerate and improve diagnosis, intervention and clinical trial recruitment, but they also help move the medical industry forward by advancing research and accelerating drug development. Sponsors will receive de-identified information and contact information for clinicians who participate. No patient-identifiable information is shared and participation is subject to patient notification and consent.
The Detect programs provide a framework for multiple companies to come together to support easier access to genetic testing for patient populations who can benefit from testing. Invitae has established Detect programs in muscular dystrophy, hereditary prostate cancer, cardiomyopathy and arrhythmia, lysosomal storage diseases and hereditary pancreatic cancer - all conditions in which testing is under-utilitized and can improve clinical care. Sponsors who work with these communities are invited to join the programs.