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Sponsored testing: Increasing access to genetic testing and empowering patients

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For people facing a suspected or clinical diagnosis of a complex genetic disease, stress and medical bills can pile up quickly from specialist appointments, hospital stays, treatments, lost work, and more. 

Some have been on a diagnostic odyssey for years.

Genetic testing can detect a DNA variant in a particular gene, which then leads to the definitive diagnosis for which they've been waiting.

But for those already facing intense financial pressure, ordering another test can put answers out of reach.

“That's where sponsored testing comes in—to remove barriers to testing,” says Derek Stevens, Director, Biopharma Partnerships at PreventionGenetics. “If they qualify, then the test is offered to them and their ordering provider at no cost.”

Offering a no-cost genetic test means many patients and their families can finally get the answers they need. 

More than no-cost genetic testing

Sponsored testing programs are often funded by (bio)pharmaceutical companies that are developing new treatments for genetic diseases. So, along with providing genetic testing at no cost, sponsored testing programs can connect patients to potentially life-changing therapies.  

Plus, because genetic conditions can have complex implications for family members and family planning, genetic counseling is often included in the sponsored testing program, providing important support services to patients and their families.

Making genetic testing available to more patients

PreventionGenetics, a wholly owned subsidiary of Exact Sciences, is an industry leader in sponsored testing programs, helping thousands of patients in the United States, Canada, and around the world gain access to genetic testing.

“Not every country has comprehensive genetic testing solutions available, so it's an important global access issue sponsored testing programs help address,” says Stevens.

Our sponsored testing programs focus on a range of genetic conditions, including retinal degeneration, obesity, Huntington’s disease, Fabry disease, immunodeficiency, hearing loss, movement disorders, amyotrophic lateral sclerosis (ALS), and dementia, among others. 

Even though these conditions may be individually rare, collectively they are common. Sponsored testing programs help provide access to genetic testing and services for conditions that collectively affect hundreds of thousands of patients—and their family members.

Trusted collaborator for sponsored testing

When Stevens joined PreventionGenetics more than five years ago, he had three sponsored programs, with one canceling later that year. 

As an industry leader, he and his team have grown the number of programs to more than 30.

In 2024 alone, 13 new programs are launching that are expected to help more than 45,000 patients each year, and he knows it’s just the beginning.

“There are a lot of patients out there suffering from genetic conditions. The fact that we're seeing an increase in sponsored testing programs means (bio)pharmaceutical companies have started to address the needs of a historically underserved patient population (those with genetic disorders),” says Stevens. “They’re starting to take action on it. Improving access to genetic testing through sponsoring testing programs is just one way, and they’re going to help a lot of people.”

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This test was developed, and the performance characteristics validated by PreventionGenetics LLC, a wholly owned subsidiary of Exact Sciences Corporation, following College of American Pathologists (CAP) and Clinical Laboratory Improvements Amendments (CLIA) regulations. This test is performed at PreventionGenetics LLC, in Marshfield, Wisconsin. This test has not been cleared or approved by the US Food and Drug Administration.