To evaluate strategies for improving cascade genetic testing among at-risk relatives of patients with known germline pathogenic variants.
Approach:
Population-based genetic testing: Investigated the implementation of universal genetic testing and cascade testing among at-risk relatives.
Quality improvement initiatives: Examined the Assisted Cascade Testing via Outreach and Navigation initiative and the GIFT trial for their impact on testing rates.
IGNITE-TX feasibility study: Assessed engagement with a digital education platform and patient navigation for cascade genetic testing among a diverse cohort.
Key Findings:
12.5% of patients with cancer harbored a germline pathogenic variant in moderate- or high-penetrance cancer genes.
Cascade testing rates remain low, particularly among underserved populations.
In the Assisted Cascade Testing initiative, 77% of at-risk relatives completed testing after navigation.
The GIFT trial showed that family dynamics significantly influenced testing decisions, accounting for 40% of variation.
The IGNITE-TX study demonstrated feasibility with diverse participants, but completion rates varied widely across intervention groups.
Limitations:
High dropout rates and low enrollment of eligible patients limit generalizability.
The combined use of digital platforms and patient navigation complicates the assessment of individual intervention effects.
