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

> **NIH NIH R01** · SLOAN-KETTERING INST CAN RESEARCH · 2022 · $884,999

## Abstract

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...

## Key facts

- **NIH application ID:** 10448127
- **Project number:** 1R01HG011914-01A1
- **Recipient organization:** SLOAN-KETTERING INST CAN RESEARCH
- **Principal Investigator:** Jada Gabrielle Hamilton
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $884,999
- **Award type:** 1
- **Project period:** 2022-08-15 → 2026-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10448127

## Citation

> US National Institutes of Health, RePORTER application 10448127, Digital Technology to Enhance Access to and Effectiveness of Cancer Genetic Counseling (1R01HG011914-01A1). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10448127. Licensed CC0.

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