R01HG013021

Applying population management best practices to preventive genomic medicine - Project summary/abstract.

Preventive genomic medicine, particularly identification of individuals with inherited cancer risk, provides health systems with the opportunity to improve longevity and quality of life for their patients. The ability to uncover substantially elevated risk of disease through genomic testing, act to reduce that risk, and improve outcomes while lowering costs has been the longstanding promise of genomic medicine.

In the case of inherited cancer, however, adherence to recommended risk management following genomic testing is low. Further, our pilot data suggests that health systems are reluctant to expand cancer genomic testing without a clearer idea of how to manage tested patients over time. Our goal in this application is to address this roadblock to genomic medicine implementation.

Specifically, we will demonstrate the benefits that adopting population management interventions following genomic testing can provide health systems, using hereditary cancer as a case example. We will revise and rigorously evaluate two population management interventions (web resources and personalized outreach) that improve timely patient outreach and end-to-end tracking without burdening providers.

Web resources is a low-touch intervention that links patients with existing educational resources (e.g., the Facing Our Risk of Cancer Empowered website). Personalized outreach is a high-touch intervention that connects patients with a dedicated care manager to discuss risk management and provide care reminders. Both interventions are highly scalable and mirror population management programs that health systems have used to support cancer screening, diabetes management, and other evidence-based care for decades.

We will compare web resources and personalized outreach to usual care in a pragmatic hybrid type-1 randomized trial that engages patients captured in hereditary cancer registries within two health systems, Kaiser Permanente Northwest (KPNW) and Denver Health (DH). KPNW is a vertically integrated health system and DH is a federally qualified health center, providing two highly unique evaluation settings.

Our primary effectiveness outcome is the proportion of registry patients up to date with recommended cancer screening over two years. We will collect secondary implementation outcomes, including the acceptability, appropriateness, feasibility, sustainability, and costs of high- and low-touch intervention approaches.

By providing clinical champions with essential data and tools to select and implement population management interventions that address critical gaps in post-testing quality and patient safety, this innovative project will advance preventive genomic medicine.

University Of Washington

AS A LEADING AUTHORITY IN THE FIELD OF GENOMICS, THE MISSION OF THE NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) IS TO ACCELERATE SCIENTIFIC AND MEDICAL BREAKTHROUGHS THAT IMPROVE HUMAN HEALTH BY DRIVING CUTTING-EDGE RESEARCH, DEVELOPING NEW TECHNOLOGIES, AND STUDYING THE IMPACT OF GENOMICS ON SOCIETY. CONGRESS INITIALLY ESTABLISHED NHGRI TO CHARACTERIZE THE STRUCTURE AND FUNCTION OF THE HUMAN GENOME, INCLUDING THE MAPPING AND SEQUENCING OF INDIVIDUAL GENES. THIS ALSO INCLUDES REVIEWING AND FUNDING RESEARCH PROPOSALS, DEVELOPING TRAINING PROGRAMS, COORDINATING INTERNATIONAL GENOME RESEARCH, COMMUNICATING ADVANCES IN GENOME SCIENCE TO THE PUBLIC, AND REVIEWING AND FUNDING PROPOSALS TO ADDRESS THE ETHICAL AND LEGAL ISSUES ASSOCIATED WITH THIS RESEARCH.NHGRI SUPPORTS THE DEVELOPMENT OF METHODS, RESOURCES AND TECHNOLOGIES TO IMPROVE THE HEALTH OF ALL HUMANS THROUGH ADVANCES IN GENOMICS RESEARCH. NHGRI SUPPORTS RESEARCH THAT ACCELERATES FOUNDATIONAL RESOURCES, TECHNOLOGY DEVELOPMENT, AND EXPERIMENTAL AND COMPUTATIONAL APPROACHES FOR BASIC GENOMICS AND FUNCTIONAL GENOMICS RESEARCH; FOR THE APPLICATION OF GENOMICS TO MEDICAL SCIENCE AND CLINICAL CARE; AND TO SUPPORT ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) RESEARCH CONCERNING SOCIETAL ISSUES THAT NEED TO BE ADDRESSED, ESPECIALLY AS GENOMIC SCIENCE ADVANCES. FOR YEARS, NHGRI HAS PARTICIPATED IN THE NIH EFFORT TO TURN DISCOVERY INTO HEALTH BY HELPING SMALL BUSINESSES DEVELOP INNOVATIVE GENOMICS TECHNOLOGIES THAT IMPROVE HEALTH AND SAVE LIVES. NHGRI ALSO DEVELOPS AND SUPPORTS INITIATIVES THAT EXPAND OPPORTUNITIES FOR GENOMICS EDUCATION AND CAREERS, CULTIVATING GENOMICS TRAINING PROGRAMS AND WORKFORCE DEVELOPMENT INITIATIVES.

93.172 - Human Genome Research

National Human Genome Research Institute (NHGRI) [HHS - NIH]

Seattle, Washington 981951016 United States

Single Zip Code

Advancing Genomic Medicine Research (Clinical Trial Optional) (R01) (RFA-HG-20-036)

Amendment Since initial award the total obligations have increased 279% from $949,489 to $3,594,399.