# Closing the GAPS: Guideline Adherence, Prevention and Surveillance in Hereditary Cancer

> **NIH NIH R42** · NEST GENOMICS · 2024 · $291,643

## Abstract

Project Summary
Genomic information is becoming increasingly vital across medical specialties, carrying the
promise to revolutionize patient care. One major barrier to unlocking the potential of genomic
medicine is a robust infrastructure that integrates with electronic medical records (EMRs) and
supports patients and clinicians across the care continuum. This entails patient identification
and education, securing informed consent, facilitating test ordering, integrating and securely
delivering test results, providing ongoing clinical decision support (CDS) for clinicians, and
empowering patients with knowledge and tools to participate in their care1. As efforts to
incorporate genomic data into the EMR accelerate worldwide, products that successfully
implement a comprehensive, longitudinal, infrastructure for genomics are imperative. Genetic
testing for inherited cancer risk has been available for decades, is recommended by guidelines,
and has good payer coverage, making it an ideal area to pilot such an infrastructure. About four
percent of the US population is estimated to have inherited cancer risk.2 About 5-10% cancers
are hereditary, with heightened risk among adolescent and young adult patients (AYAs).3–10
Expanding testing criteria, calls for universal screening, and new service delivery models have
accelerated patient identification, but long-term management continues to be a challenge.
Uptake of recommended screenings for patients with inherited cancer risk, like colonoscopy,
mammography and breast MRI, range from 52% to 85% depending on surveillance type.
Uptake of risk-reducing surgeries, like bilateral mastectomy and oophorectomy, vary widely
between 9 to 65%.11 Adherence to screening and other risk-reduction actions also declines over
time.12,13 AYAs particularly struggle with adherence because of life stage transitions with
schooling, employment, and family building14 that necessitate transfer of genetic information
between care settings and clinicians, compounded by their need to find new clinicians with
expertise or self-advocate for care with non-genetics clinicians. Clinicians face challenges as
well, with guidelines for hereditary cancer updating often as our understanding evolves. Many
clinicians are not comfortable talking to patients about genetics15, resulting in calls for CDS
tools, which require genetic information stored in the EMR. The goal of this proposal is to
develop and study a software platform that provides an EMR-integrated infrastructure to deliver
longitudinal, genetics-based care at scale. Successful completion of this project will result in a
commercially available platform that stores structured genetic results in the EMR, provides an
interface for clinicians to develop guideline-informed and patient-specific care management
plans using CDS, and automates charting. It will also include a mobile-friendly patient
component to help patients across their lifespan to understand cancer risks, adhere to
recommende...

## Key facts

- **NIH application ID:** 11008729
- **Project number:** 1R42HG013908-01
- **Recipient organization:** NEST GENOMICS
- **Principal Investigator:** Moran Snir
- **Activity code:** R42 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $291,643
- **Award type:** 1
- **Project period:** 2024-09-19 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11008729

## Citation

> US National Institutes of Health, RePORTER application 11008729, Closing the GAPS: Guideline Adherence, Prevention and Surveillance in Hereditary Cancer (1R42HG013908-01). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/11008729. Licensed CC0.

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