Donate

Approach

Think of a cascade like a waterfall----once a pathogenic variant is found, it allows for those downstream of the waterfall to benefit from this gift of information.

Hereditary cancer is higher than average cancer risk in certain parts of the body that is caused by a pathogenic variant (sometimes called a mutation) in a gene. These pathogenic variants are typically inherited from a parent and can be passed to a child. Pathogenic variants are typically passed on in an autosomal dominant pattern meaning there is a 50% (1 in 2) chance that a child will inherit a pathogenic variant from a parent and a 50% chance they will not inherit the pathogenic variant. Even if an individual has a pathogenic variant, this does NOT mean they will get cancer. There are prevention and screening options that can reduce their risk.

Most cancer is sporadic or random (not hereditary) due to changes in our DNA/genes that happen over time that can lead to a tumor/cancer developing.  These changes are not inherited from a parent. 90-95% of cancer is sporadic/random.

Cascade genetic testing is when other family members get genetic testing once a pathogenic variant has been identified in the first individual. Often this testing is done before other family members develop cancer, which can allow them to pursue cancer screening and prevention options. Think of a cascade like a waterfall----once a pathogenic variant is found, it allows for those downstream of the waterfall to benefit from this gift of information.

Biological family members of those with a pathogenic variant should consider genetic testing themselves. PROACT includes first-degree relatives such as siblings, parents, adult children, and second-degree relatives such as half-siblings, aunts, uncles, nieces, nephews, grandparents, adult grandchildren.

Even though family members can benefit from knowing their genetic cancer risk, often testing is not performed. As many as 43-85% of individuals with a pathogenic variant in their family have not had genetic testing. This can be because sometimes the information is not shared among family members or because someone is aware of the risk in the family but chooses not to pursue testing themselves. Everyone makes their own decisions about their health care, and this is OK.

Other times, a family member wants genetic testing, but the logistics are hard, or they don’t know how to navigate their insurance coverage. The PROACT solution is to simplify the process for cascade testing via easily accessed quality online information and optional low cost at-home genetic testing.

PROACT is an online platform that provides personalized cancer genetic risk information to family members of those with hereditary cancer risk. Individuals who have had a pathogenic variant identified on genetic testing can invite their first-degree and second-degree relatives to the platform to learn about genetic cancer risk and consider low-cost at-home genetic testing.

Genetic testing can typically be performed via a blood or saliva sample. In PROACT, participants are offered medical grade saliva-based genetic testing. This is collected via a saliva sample in the privacy of their own home and then mailed to the laboratory for analysis. Saliva testing has the same effectiveness and accuracy compared to blood based genetic testing for the PROACT participants.

The nationally recognized members of the PROACT research team are aiming to understand whether the PROACT platform lowers the burden of cancer for individuals and their families by providing easy access to education and genetic testing. We will study how many initial patients opt to participate in PROACT, how many family members are invited to the platform, how many family members complete the education modules and how many family members choose to proceed with genetic testing.

We care deeply about cancer prevention and early detection of cancer to provide better outcomes and strengthen families. Please reach out to us with any questions