Personalized Support Boosts Genetic Testing Uptake Among At-Risk Family Members

Among cancer patients who received personalized support and navigation services from experts throughout the genetic testing process, their first-degree relatives – parents, siblings and children – were significantly more likely to receive genetic testing, as well. Nearly half of those relatives carried a BRCA1 or BRCA2 mutation, which are associated with a higher risk of cancer, according to a new study by researchers at The University of Texas MD Anderson Cancer Center.

The findings, published in the Journal of Clinical Oncology, revealed that with personalized support, genetic testing uptake for BRCA increased from 51% to 73% among at-risk family members in 6 months. This highlights a promising strategy to improve the use of cascade genetic testing, a process in which family members of someone known to carry a cancer-related genetic mutation are offered testing to determine if they also inherited the variant.

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.”

Roni Wilke, M.D., Assistant Professor, Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center

What were the Key Findings of the Study?

Researchers enrolled 286 first-degree relatives of 151 individuals recently identified as carrying BRCA1 or BRCA2 mutations, which are linked to elevated risks of breast, ovarian, prostate and other cancers. Trial participants were assigned to either a facilitated testing program that included navigation support and streamlined access to genetic testing services, or standard of care, which included receiving a family notification letter.

In addition to the 43% increase in genetic testing in 6 months, 90% of relatives in the facilitated testing group completed testing by 18 months. Of the 206 relatives who completed testing, 46% were found to carry a BRCA1 or BRCA2 mutation associated with a higher risk of cancer. Among this group, 86% carried the same familial BRCA mutation identified in their family member.

Why is Genetic Testing Important?

Genetic testing can help identify inherited cancer risk years before symptoms show, providing important opportunities for early intervention that can prevent or treat the cancer. However, many family members never pursue it. Various barriers can exist, including confusion about the process, concerns about cost and difficulty accessing testing.

The study’s findings suggest that identifying and informing relatives of their inherited cancer risk using programs that actively assist families with cascade genetic testing has the potential to improve health outcomes across entire families.