Navigator Outreach Helped More Relatives of BRCA Carriers Get Tested

Relatives of people with harmful inherited changes in the BRCA1 or BRCA2 genes were more likely to complete genetic testing when a trained navigator contacted them directly, according to results from the facilitated cascade testing (FaCT) trial published in the Journal of Clinical Oncology.

For patients with cancer who learn they carry an inherited BRCA1/2 variant, sharing that information with family members can add another responsibility during an already demanding time. In the trial, relatives who received direct support from a navigator were more likely to complete testing than relatives who relied on information passed along by their family member.

At six months, 73.2% of first-degree relatives, including parents, full siblings and children, in the navigator group had completed genetic testing, compared with 50.7% of relatives who received standard care. The trial met its primary end point of genetic testing completion at six months.

Relatives in the navigator group also completed testing sooner, at a median of 2.2 months versus 3.8 months with standard care. By 18 months, 90% of relatives in the navigator group had completed testing, compared with 62% in the standard care group.

How does cascade genetic testing work for BRCA families?

Cascade genetic testing offers testing to biological relatives after someone in the family is found to carry a pathogenic variant, or harmful inherited gene change, such as one in BRCA1 or BRCA2.

For patients with cancer, identifying an inherited BRCA1/2 variant can have implications beyond their own care because parents, siblings and children may carry the same variant. Cascade testing allows those relatives to learn whether they inherited the familial variant and discuss appropriate next steps with their health care team.

BRCA pathogenic variants are associated with several cancers and account for an estimated 15% to 20% of ovarian cancers and 5% to 10% of breast cancers, according to the researchers.

In routine care, however, much of the responsibility for informing relatives and helping them pursue testing falls on the patient.

"The standard of care is to rely on patients to notify and coordinate testing for their relatives, often without clinical support," the researchers wrote.

For someone already navigating a cancer diagnosis, treatment and follow-up care, coordinating genetic testing for multiple family members can create an additional burden. The FaCT trial tested whether direct outreach from a trained navigator could help shift some of that responsibility away from patients and caregivers.

What did relatives learn from BRCA cascade testing in the FaCT trial?

Among the 206 relatives who completed genetic testing, 95, or 46%, were found to have a pathogenic or likely pathogenic variant. Of those relatives, 82, or 86%, carried the same variant previously identified in their family member.

The findings show how genetic information from one person with cancer can have implications across an entire family.

Some relatives who learned they carried a BRCA1/2 variant went on to establish care related to their hereditary cancer risk. This included 39% of women and 27% of men with a newly identified variant.

Five women underwent surgery to remove their ovaries and fallopian tubes, and one had her fallopian tubes removed. Among 41 women with a newly identified variant, 27% completed a breast MRI and four underwent a mastectomy.

Testing in both groups leveled off within the first year, with few relatives completing testing after that point. The timing suggests "a limited window during which intervention is most effective," the researchers explained.

How was the FaCT cascade testing trial designed?

The trial enrolled 151 people with BRCA1 or BRCA2 pathogenic variants at three academic medical centers in the United States between January 2022 and February 2025. Of those participants, 52% had a BRCA1 variant and 48% had a BRCA2 variant. All were women, and 72% had a prior cancer diagnosis.

Their 286 first-degree relatives were assigned by family to either the navigator group, which included 142 relatives, or the standard care group, which included 144 relatives.

Navigators were trained staff members rather than genetic counselors. They contacted relatives in person or by phone and provided a link to order a free saliva testing kit by mail. Results were returned through an online portal, with the option to schedule genetic counseling.

If a relative had not completed the next step within 30 days, the navigator could make up to three follow-up calls for that step. Navigators made an average of 2.1 calls per relative.

In the standard care group, patients received a letter to share with their relatives explaining the familial variant, encouraging genetic testing and describing how relatives could obtain the same free test. Relatives could receive help from a navigator if they requested it.

"These findings suggest that effective cascade testing programs do not require specialized genetics expertise, an important consideration given the ongoing shortage in the genetics workforce," the researchers noted.

Did navigator-led cascade testing cause distress for relatives?

Relatives in both groups reported high satisfaction with their decision about whether to undergo genetic testing, with no significant difference between the groups.

Among relatives who completed testing, measures of distress and uncertainty remained low in both groups. Those findings remained consistent at 12 and 18 months.

What are the limitations of the FaCT trial?

Testing rates in the standard care group were higher than the researchers expected, which may have been partly because relatives in both groups had some contact with navigators for study-related data collection.

Testing was also provided at no cost, and most participants were White and had high levels of education. Because the study was conducted at academic medical centers, the results may not reflect what would happen in community settings or among families facing greater barriers to genetic care.

All of the people in whom the original BRCA1/2 variant was identified were women, which may also limit how well the findings apply to families in which a man is the first person found to carry the variant.

The intervention was designed primarily to increase genetic testing among relatives and was not intended to evaluate long-term cancer outcomes. Further research is needed to determine how best to support relatives after an inherited cancer-risk variant is identified.

References

1. Nitecki Wilke R, et al. "Facilitated Cascade Genetic Testing for Relatives of Individuals With BRCA1/2 Pathogenic Variants: A Randomized Controlled Trial." Journal of Clinical Oncology. Published Sept. 29, 2026.

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