May 14, 2024

Cancer Risk Starts in the Genes

Exact Sciences is working to eradicate cancer by delivering a portfolio that gives providers the information they need to better serve their patients across the cancer care continuum — starting with familial risk.


Hereditary cancer tests are an important and under-used tool in cancer care. Ten to 15% of cancers are linked to a hereditary cause, and it is estimated that there are 25 million people in the U.S. today – both with and without cancer – who would qualify and benefit from a hereditary cancer test. This type of cancer testing has also become the standard of care and guidelines recommend patients to be offered germline testing at the initial diagnosis of cancer.

The RiskguardTM hereditary cancer test is an assessment tool that can help uncover genetic factors that increase the risk of developing certain cancers. The multi-cancer, multigene panel was designed to include well-described, clinically actionable genes. The results can help physicians better understand patients’ risk of developing certain cancer(s) and help guide medical management.

The Riskguard test uses a simple blood or saliva sample to evaluate genes associated with 10 common cancers, including colorectal, breast, prostate, skin, ovarian, endometrial, pancreatic, gastric, kidney and endocrine. The easy-to-understand report includes information on variants in genes that are actionable as well as potential care options to support treatment discussions.


Many patients could benefit from hereditary cancer testing, no matter where they are in their treatment journey. With the Riskguard test, it is our aim to bring hereditary cancer testing to primary care, an environment where very little genetic testing is done, but where the benefits of knowing a person’s inherited risk of cancer before a cancer diagnosis could be substantial.

The test looks for changes or variations in the genes within a person’s body. For those with positive results, it can help inform early detection and risk-reducing strategies such as the use of preventative medication and surgeries, as well as help inform potential targeted therapy and/or clinical trial participation for some patients who have been diagnosed with cancer. Results from the Riskguard test can also help primary care physicians (PCPs) provide personalized cancer screening plans for patients to help catch cancer in its earliest stages.

For example, if somebody is positive for Lynch syndrome, they may be recommended to undergo an annual colonoscopy starting in their 20s or be eligible for risk-reducing medication, or if they have been diagnosed with cancer, a positive Riskguard result may help inform eligibility for targeted therapies such as immune checkpoint inhibitors. A positive test result also allows for genetic testing for at-risk family members (also known as cascade testing). A negative result – in conjunction with family history of cancer – may inform overall cancer risk assessment and management plans.

Exact Sciences is continuing to monitor genetic research for critical changes and, as relevant data becomes available, will update the genetic test results for patients previously tested. We are also committed to furthering research and collaborations with customers to provide additional data beyond the 56 genes included in the current panel. Our recent announcement with Mayo is an example of this commitment.


The Riskguard test is complementary to and different from our other next-generation sequencing (NGS) tests, such as the OncoExTra® test. Exact Sciences is uniquely positioned to reach patients that could benefit from this testing, and who currently are not. As a leading provider of cancer screening and diagnostic tests, we are enabling seamless clinical decision-making as a trusted partner to physicians in addressing all their testing needs with the power of our portfolio and our well-regarded and extensive commercial team.

We plan to leverage our strong relationships with genetic counselors, key opinion leaders (KOLs), and oncologists to help more patients get tested. Today, the Oncotype DX®, OncoExTra and Riskguard tests are available for ordering from a single portal, streamlining the management and treatment for both at-risk, early-stage and late-stage patients.

With the launch of the Riskguard test, Exact Sciences has moved one step closer to delivering tests across the entire cancer care continuum. Our work is transforming the way cancer is treated – now and in the future – and we look forward to the impact we can make on even more patients’ lives. 

The Riskguard test was developed and is processed at PreventionGenetics LLC, a wholly owned subsidiary of Exact Sciences. PreventionGenetics is accredited by the College of American Pathologists (CAP), certified under Clinical Laboratory Improvement Amendments (CLIA) regulations, and qualified to perform high-complexity clinical laboratory testing.