Precision medicine content curation consortium will continue to receive government funds with grants from the National Institutes of Health
In a move that benefits hospitals across the country, the National Institutes of Health (NIH) has announced three grants totaling more $73 million to further the reach of precision medicine research.
These grants illustrate federal support of precision medicine development while simultaneously providing new resources for hospitals seeking to integrate precision medicine into their service lines.
The recently announced $73.2 million grants by the NIH are renewals of existing grants and are designated to support the ongoing efforts of the Clinical Genome Resource Consortium (ClinGen). This multi-institution research project was established in 2013, involving over 1,700 collaborators from more than 40 countries.
ClinGen supports precision medicine knowledge by encouraging the sharing of genomic data and carefully curating this data to increase its utility. ClinGen curates information into four key areas:
- Gene-disease validity involves reviewing genetic and experimental data that identifies which genes can lead to disease when mutations are present.
- Dosage sensitivity examines and presents evidence on whether the loss or gain of a copy of a gene can lead to disease.
- Variant pathogenicity identifies what variants of genes are related to disease and the relative risk of variants.
- Clinical actionability provides evidence supporting the implementation of precision medicine research into clinical practice. It is perhaps the most relevant curation category for hospitals.
“The ClinGen consortium aimed to create the tool that both researchers and medical professionals were missing to understand which genes and genomic variants are truly contributing to disease,” Erin Ramos, PhD, MPH, Deputy Director of the Division of Genomic Medicine at the National Human Genome Research Institute, said in a news release. We’re proud of the resource we’ve created, including the participation of more than 1,750 disease experts from more than 40 countries, and its impact so far on genomics research and medicine.”
Without the renewal of the NIH grants supporting it, the ClinGen project was set to expire.
Five organizations will receive funds from the new NIH grants:
- Broad Institute in Cambridge, Mass.;
- Geisinger in Danville, Pa.;
- University of North Carolina at Chapel Hill in Chapel Hill, N.C.
- Baylor College of Medicine in Houston; and
- Stanford University in Stanford, Calif.
These institutions have provided much of the research supporting ClinGen and will continue to do so under the new grants.
“Optimal clinical care depends on accurate information about the causes, natural history, and management of diseases,” Jonathan Berg, MD, PhD, Director of the Program in Precision Medicine in Healthcare at the University of North Carolina’s School of Medicine said in an announcement. “With genomic analysis becoming more routine for patients suspected to have rare genetic conditions, the public availability of well-curated and expert knowledge about genes and variants is critical.”
The work of these institutions and the goals of ClinGen highlight the need for better accessibility and categorization of the plethora of research that continues to be developed. By focusing on validating and organizing the research that has been conducted instead of generating more studies, ClinGen provides hospitals and clinicians with better access to information relevant to their needs.
The takeaway for hospital leaders is twofold. First, it highlights the continued interest and financial support for precision medicine research from the federal government. Second, valuable curation of precision medicine research will continue, allowing hospitals to identify emerging clinical applications of this research more easily.
—Caleb Williams
Related Information:
National Institutes of Health (NIH)
NIH awards $73m to continue building resource of genes and genomic variants for precision medicine
Clinical Genome Resource Consortium (ClinGen)
ClinGen – Clinical Genome Resource
University of North Carolina at Chapel Hill
Precision Medicine in Healthcare at the UNC School of Medicine
UNC Awarded $24-million NIH Grant to Improve Genomic, Precision Medicine