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Our research, presented at the American Association for Cancer Research Conference on the Science of Cancer Health Disparities, finds differences in the barriers that can slow the flow of cancer prevention information from genetic testing within families.
One of the best tools to prevent cancer is genetic counseling and testing. Up to 10% of cancer results from hereditary risks passed along in families through their DNA. Spotting a responsible gene can reveal prevention opportunities that can help families avoid the physical and emotional tolls of cancer and its treatment. Additionally, in cases where cancer prevention is not possible, identifying a cancer risk gene can lead to intensified cancer screening that allows cancer to be detected at an earlier, more curable stage.
In my research, I work to understand how to help people avoid the rigors of cancer treatment. Through cascade testing, we can help families of someone with an inherited cancer gene get a better sense of their cancer risk.
Prior research shows a significant gap between the preventive opportunities offered by genetic testing of relatives at elevated risk of cancer due to the presence of cancer risk genes within the family and their actual use. Communication barriers within families mean up to 40% of family members never learn about life-saving genetic testing results.
To close this gap, we’re exploring how we can help patients better understand genetic test results and make communicating those results to family members easier and more effective.
What is cascade genetic testing?
Cascade testing is the process of offering genetic counseling and testing to the blood relatives of someone who has already been found to have an inherited cancer. We start with the first person found to have the gene (the proband) and expand from there. Often, this is an individual who has already been diagnosed with cancer and completed genetic testing as part of their cancer management.
For example, if you are found to carry a genetic mutation such as BRCA1 or BRCA2 (which can lead to a much higher lifetime risk of developing breast, ovarian, and other cancers), your parents, siblings, and children each have a 50/50 chance of having that same mutation.
Once the mutation has been identified (a positive result), the next step is to share these results with family members so they can act with “precision prevention,” which means completing their own genetic testing and counseling so that tailored cancer prevention strategies can be implemented if they are discovered to have the same cancer-causing mutation. Cancer prevention in these individuals could look like having both breasts removed or their ovaries and fallopian tubes removed, leading to a greater than 90% reduction in the risk of developing breast or ovarian cancer. Alternatively, they could start their breast or colon cancer screening at an earlier age, often with screening regimens that are intensified to enhance early detection of cancer.
Related: Read “Triple-negative Breast Cancer: Who Should Get Tested for Their Genetic Risk.”
What does research tell us about genetic testing?
At the American Association for Cancer Research (AACR) conference in September 2025, I presented new findings from our study called “Understanding Cascade Testing in Diverse Families.”
We conducted in-depth interviews with patients from both African American and White backgrounds to understand why and how some families struggle to share genetic information.
Our analysis found that while both groups expressed a strong desire to share their genetic testing results with family members, the way they communicated and the barriers they faced were quite different:
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White participants typically shared their testing results with their immediate family members.
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African American participants shared their test results with a much wider group, including aunts, uncles, and cousins.
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African American participants reported more difficulty understanding the complex technical details of their results and feeling less confident explaining the risks to their families. White participants reported a general understanding of the genetic testing results but noted difficulty navigating the next steps and explaining the complexities of the results to their family members.
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White participants preferred traditional education pamphlets for sharing information, while African American participants preferred digital (online) materials.
These are significant differences. We now know that handing the same brochure to every patient can have uneven results. We also know that there are differences in the understanding of results between White and Black patients, which can lead to significant communication barriers, particularly for Black patients. This research underscores the need to develop targeted educational interventions and to provide additional support for patients’ communication of genetic test results to family members, to ensure that all family members realize the powerful, life-saving cancer-prevention and early-detection benefits of knowing one’s cancer risk through genetic testing.
Empowering the cancer conversation.
Often, patients say they feel a sense of “genetic guilt” when they receive a positive test result. It’s difficult for them to escape the feeling that they’re passing down a burden. I encourage them to see it differently: You’re not giving your family bad news; you’re giving them the gift of knowledge and the opportunity to prevent cancer.
To make family conversations easier, MedStar Health patients work with genetic counselors who serve as “translators” of this complex information. They can provide letters for families that explain the test findings in plain language. This way, patients don’t have to feel like scientists when talking with their siblings about their cancer risk.
Currently, laws protect your privacy by prohibiting healthcare providers from contacting family members directly. Innovative direct-disclosure models could enable providers to call with the patient’s permission, reducing the emotional burden and ensuring accurate delivery of genetic information.
The future of cancer prevention.
Backed by a career development grant from the AACR, our research is expanding. We’re moving from identifying communication barriers to building tools to help. Groundbreaking digital platforms and individualized educational models could help more patients bridge the gap with their families, and such strategies will be pilot-tested in future research projects
Research like this helps us move toward a future where we don’t just improve cancer treatment, we stop it from being necessary in the first place.
Genetic testing is no longer JUST about the person in the clinic; it’s about watering their entire family tree. If you have a family history of cancer, consider speaking with a genetic counselor—getting tested could help protect your family for generations.
