Choice architecture in cascade genetic testing (CHARGE study) for hereditary cancer: Design of a hybrid type I...

Although cascade testing affords disease-free relatives the opportunity for genetically targeted primary disease prevention and is endorsed by multiple guidelines, utilization studies reveal that rates remain low. Lack of family communication and high testing costs are two of the most commonly documented barriers to testing. We leverage two well-known choice-architecture tools from psychology and behavioral science - default effect and zero price effect - to address these barriers and improve cascade testing rates in hereditary cancer. By altering the underlying choice architecture, individual decision-making can be influenced with minimal effort to support behavioral changes.

This two-arm, single site, hybrid type I effectiveness-implementation randomized trial compares the effectiveness of a choice-architecture based cascade testing intervention versus usual care control among English-speaking patients with a pathogenic variant in a cancer susceptibility gene receiving care at a tertiary cancer center. The intervention includes proband-mediated recruitment of at-risk relatives, provision of genetic counseling, educational information about cascade genetic testing and free testing window, and return of results. The usual care arm follows standard of care for cascade genetic testing. The primary study outcome is cascade genetic testing rate measured by proband self-report. The study evaluates implementation process via survey, administrative, and interview data including acceptability, feasibility, and process outcomes.

This trial will generate findings about the effectiveness of a cascade testing intervention targeting patients with a pathogenic variant in a cancer susceptibility gene and identify barriers and facilitators that influence implementing this intervention in clinical cancer genetic settings (ClinicalTrials.gov Identifier: NCT06284330).