Study: Family communication and genetic testing after an inherited cancer risk is identified

What is this study about?

When a person has an inherited gene mutation linked to cancer risk, genetic testing can determine whether other family members also inherited the mutation. This "cascade testing” involves informing relatives, encouraging them to consider genetic counseling and testing and suggesting which family members should be tested first. Genetic testing may also clarify whether relatives may benefit from earlier screening, risk-reducing strategies or preventive care.

In this study, researchers wanted to better understand what happens after someone receives a positive genetic test result. Specifically, they looked at whether patients shared their results with family members, how much healthcare providers helped with those conversations and whether relatives were offered and chose genetic testing.

The study included over 2,100 people with inherited variants linked to breast cancer risk, gastrointestinal cancer risk and other hereditary cancer syndromes.

Why is this study important?

Genetic testing specifically for cancer can identify inherited mutations that increase a person’s risk. For people diagnosed with cancer, genetic testing may help guide treatment and inform screening for other cancers. For individuals at high risk, testing may support earlier or more frequent screening, risk-reducing options and preventive care. Test results can also provide important information for relatives who may carry the same harmful mutation.

Sharing information about a positive test for an inherited mutation informs relatives to be tested so that they can learn whether they carry the same mutation. Family members who test positive may have options for earlier or more personalized cancer screening to catch cancer when it is most treatable. They may also have options for preventive strategies to lower their cancer risk. However, these benefits occur only when family members know about the mutation and pursue testing.

How was the study conducted?

Researchers invited over 4,000 people in California and Georgia who were diagnosed with cancer between 2018 and 2019. The participants included those with a mutation (also known as a pathogenic change) in a gene associated with inherited cancer risk.

A total of 2,183 people completed the survey. Participants typically completed the survey about 4.5 years after diagnosis (about 3-8 years). The survey asked participants about:

• discussions with healthcare providers about sharing genetic results.
• whether they informed relatives about their results.
• their views on who is responsible for sharing this information.
• whether family members pursued genetic testing.

Study findings

The findings suggest that there is often a gap between sharing genetic information and taking action.

Of the 2,183 people who responded to the survey, the researchers found that:

• Most patients (87%) felt it was their responsibility to share genetic test results with relatives.
• Patients reported informing about 87% of their first-degree relatives (parents, siblings and children).
• Communication was less common with more distant relatives, and fewer than half of second-degree relatives were informed.
• Genetic counselors were much more likely than oncologists or surgeons to help patients communicate results to family members. This included explaining how to discuss results with relatives, and in some cases, speaking directly with family members.
• Nearly one-third of patients said that none of their relatives had genetic testing after learning about their family's genetic risk.
• Only a small percentage of participants reported that multiple relatives had been tested.
• Results were similar whether or not the inherited variant was associated primarily with an elevated risk for breast or gastrointestinal cancer.

The researchers concluded that new approaches are needed to help families communicate genetic risk information and ensure that more at-risk relatives have access to potentially life-saving genetic services.

 

What does this mean for me?

If you learn that you carry an inherited cancer-related gene mutation, sharing that information with family members may help them understand their own cancer risk and make informed healthcare decisions.

This study suggests that many people successfully communicate genetic test results to relatives, but that family members may need additional support before deciding whether to pursue genetic testing.

There are many possible reasons for this. Family members may not understand the importance of testing, may worry about costs, may not know how to access genetic services or may feel overwhelmed by the information.

For relatives who may be at risk, genetic counseling can help determine whether testing is appropriate and what the results could mean. This may include relatives who share more of your DNA, such as parents and siblings, or relatives who share less, such as aunts, nieces or cousins. Read more here on our webpage about discussing health information with relatives.

The National Society of Genetic Counselors (NSGC) has a search feature to help you find a genetic counselor in your area. Also consider speaking with your healthcare team about all options that are appropriate for you.

 

Reference

Kurian, Allison W., et al. “Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic Variants.” JCO Precision Oncology, vol. 10, no. 6, June 2026, p. e2600041. https://doi.org/10.1200/PO-26-00041.

 

Disclosure: FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.

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posted 10/01/2026