Cascade Testing
Cascade Testing in the PE-CGS Network
Project Snapshot
Did you know?
Early detection and prevention of conditions is possible through cascade testing for family members and relatives of individuals who test positive for specific genetic variants. Talking openly about genetic test results within the family is crucial.
Goal
To analyze factors influencing cascade testing among Hispanic/Latino and African American participants and those with rare tumors and explore barriers and facilitators for those who test positive for genetic variants.
Method
- Collect survey data to assess family communication patterns and analyze cascade testing rates.
- Conduct qualitative interviews to explore experiences in sharing genetic results and uptake of cascade testing among family.
Implications
Understanding how genetic testing results are communicated within family will help guide how to promote cascade testing for earlier cancer detection and prevention measures for families of underrepresented populations and those with rare tumor types.
Project Deep Dive
Summary:
Cascade testing is the process of extending genetic testing to family members and relatives of individuals with a specific genetic mutation. This process involves informing family members and relatives of genetic test results. Past literature on cascade testing primarily focused on family communication among non-Hispanic Whites undergoing genetic testing, with limited data among historically disadvantaged populations and those with rare tumor types. The Research Centers across PE-CGS Network including COPECC, WU-PE-CGS, OPTIMUM and Count Me In will survey Hispanic/Latino, African American participants, and those with rare tumor types (gliomas and sarcomas) to analyze factors influencing cascade testing among all participants and explore barriers and facilitators of cascade testing among those who test positive for genetic variants.
Each Research Center will conduct a standardized 1-year follow-up survey on all participants, regardless of test results, to assess communication patterns with family. They will collect additional data from participants who test positive for genetic variants and analyze differences in rates of cascade testing. Finally, they will conduct qualitative interviews with a subset of these participants to further explore experiences in sharing genetic results and the uptake of cascade testing among family members and relatives.
This study will provide a better understanding of family communication of genetic test results in underrepresented populations, individuals with rare tumor types, as well as those recruited virtually outside of clinical settings. Insights from this study will help improve communication about genetic testing results and promote cascade testing.
Progress to Date (as of May 2024):
The investigators at Count Me In, COPECC, and WU-PE-CGS have developed study materials including a 1-year follow-up questionnaire and interview guide, now ready in English and Spanish. Data collection and data sharing will begin after approval from Institutional Review Board (IRB) across the participating centers.