Facilitated Cascade Program Increases Genetic Testing in Hereditary Cancer Families

Although BRCA1 and BRCA2 mutations are linked to elevated risks of breast, ovarian, prostate, and other cancers, many relatives do not pursue genetic testing because of confusion about the process, cost concerns, or limited access. Now, a new study shows that personalized support can increase cascade genetic testing among at-risk family members.

Researchers at the University of Texas MD Anderson Cancer Center (Houston, TX, USA) evaluated a facilitated testing program designed to guide first-degree relatives through hereditary cancer genetic testing. The program combined navigation services with streamlined access to testing and was compared with standard care, which consisted of providing relatives with a family notification letter.

The study enrolled 286 first-degree relatives of 151 individuals who had recently been identified as carrying BRCA1 or BRCA2 mutations. Participants were assigned to either the facilitated testing program or standard care. Researchers then assessed whether personalized support improved genetic testing uptake over six months and longer-term testing completion.

BRCA testing uptake among at-risk relatives increased from 51% to 73% within six months when personalized support was provided. In the facilitated testing group, 90% of relatives completed testing by 18 months. Among the 206 relatives who completed testing overall, 46% carried a BRCA1 or BRCA2 mutation associated with higher cancer risk, and 86% of those carriers had the same familial BRCA mutation identified in their family member.

The findings were published in the Journal of Clinical Oncology. The work focused on facilitated cascade genetic testing, in which relatives of someone known to carry a cancer-related genetic mutation are offered testing to determine whether they inherited the same variant. The study suggests that programs that identify and inform relatives about inherited cancer risk, while actively assisting families with testing, may improve genetic testing uptake and support cancer prevention efforts across families.

“This study demonstrates that simply informing relatives of their inherited cancer risk is not enough. When we provided navigation to help people through the testing process, we noticed a meaningful difference in utilization and how soon people completed their testing. This creates new opportunities to enhance screening, prevention and early intervention for several hereditary cancers,” said Roni Wilke, M.D., assistant professor of Gynecologic Oncology & Reproductive Medicine.

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