Genetic testing has become one of the most powerful tools in modern cancer prevention. However, new research shows that important information from these tests does not always reach every family member who could benefit from it.
Our recent study, presented at the American Association for Cancer Research (AACR) Conference on the Science of Cancer Health Disparities, highlights the challenges that can slow or interrupt the sharing of genetic testing information within families.
Understanding these barriers is critical because genetic testing doesn’t only impact the individual being tested—it can also provide life-saving insights for their entire family.
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The Role of Genetic Testing in Cancer Prevention
Genetic counseling and testing offer one of the most effective ways to identify cancer risks early. Research shows that up to 10% of cancers are linked to inherited genetic mutations passed through families.
When these risk-related genes are identified, families gain valuable opportunities to take preventive steps before cancer develops. Even when prevention isn’t possible, identifying a genetic risk can lead to more frequent and earlier screenings, which significantly increases the chances of detecting cancer at a treatable stage.
My research focuses on finding ways to help people avoid the difficult and often life-altering journey of cancer treatment. One promising strategy is cascade genetic testing, which helps families better understand their shared cancer risks.
However, earlier studies reveal a concerning gap between the potential benefits of genetic testing and how often family members actually use it. Communication barriers within families mean that as many as 40% of relatives never learn about genetic testing results that could help protect their health.
To address this problem, our work aims to help patients better understand their genetic results and improve how those results are shared with family members.
What Is Cascade Genetic Testing?
Cascade testing is a process that offers genetic counseling and testing to the blood relatives of someone who has already been identified as carrying an inherited cancer-related gene.
The process begins with the first individual diagnosed with the mutation—known as the proband—and expands outward to other family members. In many cases, this first person has already undergone genetic testing as part of their cancer treatment plan.
For example, if someone tests positive for a mutation in the BRCA1 or BRCA2 genes, their parents, siblings, and children each have a 50% chance of carrying the same mutation. These genes are associated with significantly higher lifetime risks of developing cancers such as breast or ovarian cancer.
Once the mutation is identified, sharing the information with relatives becomes a crucial next step. Family members can then pursue their own genetic testing and counseling, allowing doctors to design personalized cancer prevention or early detection strategies.
Preventive measures may include surgical procedures such as removing the breasts or ovaries, which can reduce the risk of certain cancers by more than 90%. Other individuals may choose enhanced screening programs, beginning cancer screenings earlier or undergoing more frequent monitoring to detect cancer at its earliest stages.
What New Research Reveals About Communication Barriers
At the AACR conference in September 2025, I presented findings from our study titled “Understanding Cascade Testing in Diverse Families.”
The research involved detailed interviews with patients from both African American and White communities, with the goal of understanding how families share genetic information and what obstacles they face.
The results revealed several important differences in communication patterns.
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White participants tended to share their genetic testing results mainly with their immediate family members.
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African American participants often shared results with a broader network that included extended relatives such as aunts, uncles, and cousins.
Challenges in Explaining Genetic Results
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African American participants reported more difficulty understanding the technical aspects of their genetic results and felt less confident explaining them to relatives.
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White participants generally felt they understood the test results but struggled with explaining complex details or knowing what actions their family members should take next.
Preferences for Educational Materials
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White participants preferred printed educational materials, such as pamphlets.
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African American participants favored digital or online resources.
These differences highlight an important issue: a single communication approach cannot effectively serve every patient population.
Providing the same educational brochure to all patients may overlook cultural preferences and differences in how information is best understood and shared. These findings emphasize the need for more personalized educational tools and communication support, especially for patients who may face greater challenges in explaining genetic information to their families.
Addressing “Genetic Guilt”
Many patients who receive a positive genetic test result experience what is sometimes called “genetic guilt.” They may feel responsible for passing a harmful mutation to their children or relatives.
However, healthcare professionals encourage patients to view the situation differently. Rather than delivering bad news, genetic testing gives families the knowledge needed to take preventive action.
Knowing about a genetic risk allows individuals to take control of their health, potentially preventing cancer or detecting it early enough for successful treatment.
Making Family Conversations Easier
Discussing genetic risks with family members can feel overwhelming, especially when the information is highly technical.
To help patients navigate these conversations, genetic counselors often act as interpreters of complex medical information. At healthcare systems such as MedStar Health, counselors work closely with patients to explain test results in clear, understandable language.
They can also provide written summaries or letters that patients can share with relatives, making it easier to communicate important information without needing to explain complicated scientific details themselves.
Currently, privacy laws prevent healthcare providers from directly contacting family members about genetic risks. However, researchers are exploring new models where—with patient permission—providers could help share this information more directly. This approach could reduce emotional stress for patients while ensuring that relatives receive accurate and timely information.
The Future of Cancer Prevention
With support from a career development grant from the AACR, our research is now expanding beyond identifying communication challenges.
The next phase focuses on developing practical tools that help patients share genetic information more effectively with their families. Potential solutions include digital platforms and personalized educational resources designed to support clearer communication.
These tools will be tested in upcoming research projects to determine how well they help close the gap between genetic testing results and family awareness.
Ultimately, efforts like these move healthcare toward a future where the focus is not only on treating cancer but preventing it before it begins.
A Family-Centered Approach to Genetic Testing
Genetic testing is no longer just about the individual patient sitting in the doctor’s office. Its impact can extend across generations, providing critical information that helps protect entire families.
If you have a history of cancer in your family, speaking with a genetic counselor may be an important step. Genetic testing could offer insights that allow you and your relatives to take proactive steps toward better health.
In many ways, understanding your genetic risk is like nurturing a family tree—providing knowledge that can help future generations grow healthier and stronger.