Table 5.

NHGRI genomic medicine research programs and associated NIH funding and fiscal year (FY) of support, 2007–2022. Amounts for FY2019 and beyond are estimates.

Program NIH Funding and Fiscal Years (FY) of Support	Objectives	Website URL
Undiagnosed Diseases Network (UDN)¹ $237M, FY2013-FY2022	• Build upon NIH Undiagnosed Diseases Program to improve diagnosis and care for patients with undiagnosed diseases • Facilitate research into the etiology of undiagnosed diseases • Create an integrated and collaborative research community to identify improved options for optimal patient management • Assess development of a sustainable national resource after NIH support ends in FY22	https://undiagnosed.hms.harvard.edu/
Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT)² $26M, FY2013-FY2018	• Explore implications, opportunities, and challenges of using genomic sequence information in the newborn period • Acquire, analyze, and make available genomic datasets relevant to the newborn period • Advance understanding of disorders identifiable via sequenced-based newborn screening • Investigate ELSI implications of implementation of genomic sequencing of newborns	https://www.genome.gov/27558493/newborn-sequencing-in-genomic-medicine-and-public-health-nsight/
Clinical Sequencing Evidence-Generating Research (CSER)³ $166M, FY2012-FY2020	• Define, generate and analyze evidence regarding clinical utility of genome sequencing • Research critical interactions among patients, family projects members, health practitioners, and clinical laboratories that influence implementation of clinical genome sequencing • Identify and address real-world barriers to integrating genomic, clinical, and healthcare utilization data within a healthcare system	https://cser-consortium.org/projects
Electronic Medical Records and Genomics Network (eMERGE)⁴ $141M, FY2007–2019	• Identify rare variants with presumed major impact on function of 100 clinically relevant genes • Assess phenotypic implications of variants by leveraging well-validated EMR data or re-contact • With appropriate consent and education, report actionable variants to patients and clinicians • Assess impact to patients, clinicians, and institutions on patient outcomes and cost of care	https://emerge.mc.vanderbilt.edu/
Implementing Genomics in Practice (IGNITE) $35M, FY2013-FY2018	• Expand and link existing genomic medicine efforts • Develop new collaborative projects and methods in diverse settings and populations • Contribute to evidence base regarding outcomes of incorporating genomic information into clinical care • Define and share processes of genomic medicine implementation, diffusion, and sustainability	https://ignite-genomics.org/
Implementing Genomics in Practice (IGNITE)- Pragmatic Clinical Trials $41M, FY2018-FY2022	• Conduct pragmatic clinical trials to measure clinical utility and cost-effectiveness of genomic medicine interventions • Assess approaches for real-world application of genomic medicine in diverse clinical settings • Identify types of interventions requiring randomized trials and effective methods for conducting them	https://www.genome.gov/27572183/
Clinical Genome Resource (ClinGen)⁵ $73M, FY2013-FY2020	• Create a comprehensive, openly accessible knowledge base of clinically annotated genes and variants • Develop consensus process for assessing clinical implications of genetic variants • Disseminate this information to appropriate clinical organizations to aid in developing practice guidelines • Build upon and unify existing efforts to interpret clinical implications of sequence variants	https://www.clinicalgenome.org/
Investigator-Initiated Research $42M, FY15-FY2022	• Perform clinical sequencing research • Identify genomic determinants of HIV/AIDS drug response and co-morbidities • Examine genomic associations of serious adverse drug reactions and develop preventive strategies	https://www.genome.gov/27530165/
Training and Education $16M, FY2016-FY2021	• Establish institutional training grants • Support fellowships • Conduct conferences	https://www.genome.gov/10000950/

Supported by the NIH Common Fund

Co-funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development

Co-funded by the National Cancer Institute

⁴

Co-funded by the NIH Office of the Director

⁵

Co-funded by the National Cancer Institute and the NIH Office of the Director