R01HG011794

Deploying a Genomic-Medicine Risk Assessment Model for Diverse Primary Care Populations and Settings - Abstract

Family Health History (FHH), a critical component of genomic medicine that is essential for both identifying individuals at risk for hereditary conditions and for contextualizing results of genetic testing, continues to be broadly underutilized and underappreciated in clinical care.

Barriers to adequate data collection and synthesis are numerous and cross all clinical stakeholders: patients, providers, and health systems. Significantly, they include the pervasive view that FHH is unimportant except in select cases and that it rarely contributes to clinical decision making. With this perspective, few providers have been willing to allocate precious time to collect detailed FHHS or to learn the complex algorithms required to synthesize FHH data into actionable care plans.

However, in studies of systematic FHH-based risk assessments in unselected populations, 25% of patients meet risk criteria for (actionable) hereditary conditions. FHH-based risk assessment programs have emerged to address these barriers, but as designed, do not meet the needs of low literacy, low resource populations.

The goal of this proposal is to develop a scalable end-to-end solution for risk assessment and management that meets the needs of low resource settings. Our central hypothesis is that combining FHH-driven risk assessment, a literacy-enhanced interface, family engagement (through social networking platforms for data gathering and risk sharing), and a genetic testing delivery system will create a solution that engages and increases the proportion of diverse patients who are identified as at increased risk, who undergo testing, and, when appropriate, who initiate cascade screening among relatives.

In this proposal, we will define and deploy this new care delivery model as the "Genomic Medicine Risk Assessment Care for Everyone" (GRACE). To this end, we will:

1) Develop and deploy the model using pre-implementation assessments at clinical sites with highly diverse patient populations to select the most appropriate integration options and pathways for both patients and providers.

2) Perform a randomized implementation-effectiveness pragmatic hybrid trial to assess implementation and effectiveness outcomes relevant to these diverse populations. Outcomes will include reach, uptake, clinical utility, accessibility, genetic testing frequency, genetic testing results, and cost-effectiveness.

Duke University

NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.172 - Human Genome Research

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

Durham, North Carolina 277050005 United States

Single Zip Code

Administrative Supplements to Existing NIH Grants and Cooperative Agreements (Parent Admin Supp Clinical Trial Optional) (PA-20-272)

Amendment Since initial award the total obligations have increased 301% from $759,738 to $3,049,332.