R01HG011798

Vigor: Virtual Genome Center for Infant Health - Project Summary

Genomic medicine has rapidly advanced in the past decade, enabling earlier diagnosis and personalized treatment. However, only a few highly specialized centers in the US have the resources to take advantage of these advances in patient care. This has created a large health equity gap, whereby patients cared for in typical community settings, often low-income and/or representing racial/ethnic minorities, do not receive equitable medical care.

Another barrier to the wider utilization of genomic medicine is the poor dissemination of knowledge among clinicians, especially in community settings. A wide gap exists in the implementation of genomic medicine from diagnosis to personalized therapies, a field experiencing huge advances but still subject to wide disparities in accessibility.

Our proposal aims to develop and test the implementation of a strategy to break down these barriers to genomic medicine, aligned with RFA-HG-20-036. Our target population is sick newborns. We propose a novel center, Virtual Genome Center (Vigor), building upon our past and ongoing research as investigators for the NIH-funded BabySeq study (U19HD077671), Undiagnosed Disease Network (U01HG007690), and Center for Mendelian Genomics (UM1HG008900).

Vigor will be a center that can remotely support clinicians and families working in community NICUs. In Aim 1, we will establish the Vigor Center and enroll and follow 250 eligible newborns and their families for 6 months within 4 community NICUs in the Northeast that serve diverse populations.

In Aim 2, we will facilitate exome sequencing and create and return timely, comprehensive interpretive reports to families and physicians that: (1) relay diagnostic findings, (2) recommend clinical actions, (3) offer reanalysis of data for those with negative or inconclusive findings, and (4) provide additional research opportunities.

In Aim 3, we will comprehensively assess implementation outcomes. Among neonatologists and within NICUs, we will examine: (1) appropriateness, (2) feasibility, (3) penetration, and (4) equity (by race/ethnicity, insurance status, and primary language), as well as (5) satisfaction of Vigor use. Among families, we will examine: (1) satisfaction, (2) adverse mental health (stress and depression), and (3) newborn clinical outcomes.

This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. Our intervention has great potential to address disparities in genomic medicine among low-income and URM populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities.

Children's Hospital Corporation

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]

Boston, Massachusetts 021155724 United States

Single Zip Code

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

Amendment Since initial award the End Date has been extended from 06/30/26 to 06/30/27 and the total obligations have increased 363% from $1,097,885 to $5,078,618.