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 research on cascade testing primarily focused on family communication among well-studied groups undergoing genetic testing, with few studies on populations with limited research data and individuals with rare tumor types. The Research Centers across PE-CGS Network including COPECC, WU-PE-CGS, OPTIMUM and Count Me In will survey participants to analyze factors influencing cascade testing among all 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 among populations with limited research data and 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. Data collection and data sharing will begin after approval from Institutional Review Board (IRB) across the participating centers.