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

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 recommended care, receive education, get reminders for care, and share information with family and other clinicians.