Digital Technology to Enhance Access to and Effectiveness of Cancer Genetic Counseling

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PROJECT SUMMARY A substantial number of people at hereditary risk for cancer could benefit from novel genetic counseling (GC) approaches that promote education, engagement, and outreach to at-risk relatives (ARR). When probands carrying pathogenic/likely pathogenic variants (PV) are asked to share medically actionable genetic results with their ARR, less than 30% of ARR complete predictive “cascade” testing, putting lives at risk. Provider -facilitated outreach to ARR leads to improved cascade testing uptake. Yet, rigorous experimental study designs have not been used to demonstrate comparative effectiveness of this approach for sustainably expanding ARR access to cancer GC and testing, or to investigate whether digital technology may enhance provider-facilitated outreach. Patients with a variant of uncertain significance (VUS) may also benefit from enhanced GC engagement; current standard of care leaves serious risks for misinterpretation by patients and non-genetics providers, and consequent medical mismanagement. Patients may experience negative responses to VUS, particularly when encountering discordant interpretations or recommendations between providers and confusion about how they will receive variant updates. In addition, best practices for follow-up and reassessment of a VUS would benefit from technology to support continuity of patient care with local primary care providers (PCPs). The proposed study addresses these needs by assessing the impact of a new GC model that leverages the increasing digitization of healthcare on psychosocial, behavioral, and implementation outcomes for probands with PV and their ARR, and for patients with a VUS result. We will first enhance an existing digital tool to include linguistically tailored and end-user vetted features that increase patient access, education, and sustained engagement. We will incorporate feedback on this enhanced Digital Genetics Platform (eDGP) from relevant end-user cognitive interviews (n=60) and a focus group (n≈10). Next, we will conduct two RCTs involving either probands with a PV (n=350) and their ARR (n≈3150), or patients with a VUS (n=280). Probands and their ARR will be randomized to the standard of care arm, wherein probands outreach to ARR to encourage testing, or the intervention arm, wherein the GC team is given permission to outreach to ARR with support from the eDGP to expand service access across the U.S. Patients with a VUS will be randomized to obtain follow-up care through the standard of care arm, wherein they are recommended to re-contact the GC care team in 1-2 years, or the intervention arm, wherein they access the eDGP to remain engaged with the GC care team, and receive education and reminders for update appointments. We will also directly assess PCPs’ uptake of digital VUS education. Participants will complete surveys to assess uptake, psychosocial and behavioral outcomes, and intervention implementation readiness and cost. This research has the potential to improve care for patients with a PV and their families, and patients with a VUS, and will ultimately be applicable to the practice of GC and genomic medicine across diseases and clinical settings.