R01HG011792

Building the Evidence Base for Appropriate and Efficient Implementation of Emerging Genomic Tests for Disease Management and Screening - Project Summary

Payer coverage and economic value continue to be critical factors in determining whether genomic medicine is appropriately and efficiently implemented into clinical care and health policies. However, genomic tests are now emerging that present particularly difficult challenges for coverage and value determinations because they (a) will be used for screening and early detection in asymptomatic populations in addition to disease management in patients with a condition, and (b) use less-transparent methods, such as algorithmic scores, to establish linkages between genetic markers and disease.

Our objective is to assess payer coverage decisions and the economic value of two types of emerging genomic tests for disease management and screening: cell-free DNA tests (CFDNA) and tests based on polygenic risk scores (PRS). The specific aims are:

Aim 1: Examine which CFDNA and PRS tests are covered and why using (a) systematic evidence reviews of payer coverage policies and (b) structured interviews with payers on how they consider evidence and make coverage decisions.

Aim 2: Understand the economic value of CFDNA and PRS tests by taking a patient-centered approach, addressing key methodological challenges, and identifying gaps in evidence.

Aim 3: Compare evidence needs for payer coverage (Aim 1) and economic value assessment (Aim 2) across clinical scenarios and generalize our findings on evidence needs to other emerging clinical scenarios, considering patient access and stakeholder perspectives.

This study will provide unique insights by examining multiple clinical scenarios and both coverage and economic value. All aims will be framed around the implications of our findings for patient access and disparities and consideration of stakeholder perspectives within a rapidly changing healthcare policy and delivery ecosystem.

Study outcomes will identify key factors that determine positive coverage, what evidence is needed and how it can be prioritized to develop appropriate coverage and value assessments, how patient-centered and advanced modeling approaches can be applied across clinical scenarios, and how coverage and value assessments can take into account patient access and disparities and diverse stakeholder perspectives.

Study findings will contribute to the overarching objectives of systematic development of practices and policies that are appropriate, efficient, and equitable irrespective of whether the tests are covered or shown to have economic value. Our findings will be useful across stakeholders and will facilitate the development of policies and practices that will help patients have appropriate, efficient access to testing.

San Francisco Regents Of The University Of California

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]

San Francisco, California 94158 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 383% from $953,132 to $4,599,158.