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NHGRI Plans $14M Grant for Clinically Relevant Variants Resource

NEW YORK (GenomeWeb News) – The National Human Genome Research Institute will undertake a four-year funding program aimed at creating a resource to identify, analyze, assess, and disseminate the best available knowledge about the growing number of common genetic variants with possible relevance to clinical care.

The National Advisory Council on Human Genome Research last week approved the plan to fund the four-year project, and NHGRI may post a request for applications for the program sometime this summer, Erin Ramos, an epidemiologist with the institute's Office of Population Genomics, told GenomeWeb Daily News last week.

NHGRI hopes the program will cut down on duplicative research efforts and provide information that could be used by organizations that draft guidelines for clinical care. It expects to provide up to $14 million to one institution to launch the resource.

NHGRI believes there is a need for such a resource because dozens of medical centers and research programs around the country are now regularly producing variants that can be used to predict risk of disease or drug response, and many of these are busy "evaluating the same assays, reviewing the same literature, and assessing the same evidence," according to an NHGRI paper outlining the program.

"At this point these efforts are isolated or [are] individual efforts at each of these institutions, and we feel that a unified and systematic approach to coordinate these efforts and to disseminate findings regarding relevant genetic variants would reduce duplication of efforts, and ultimately speed adoption of moving these variants into clinical care," Ramos told GWDN.

"The goal for us is to develop this resource of genetic variants of likely implications for clinical care, including the supporting evidence, into a resource that can be used as a substrate for the development of professional practice guidelines which will facilitate the movement of these variants into clinical practice," she said.

"This effort would pull together all of the information that is being generated by a lot of these [gene variant research] programs into one resource.... Many of these programs are identifying the genotype-phenotype correlations between these particular variants, and their outcomes, so we would be able to integrate this information with other information in the literature and then use that to categorize which genetic variants are more likely ready for implementation into the clinic," Ramos said.

The plan is to fund one center that will work with other partners to identify genetic variants with likely implications for clinical care and to incorporate those and their supporting evidence into the new resource.

"A key part of this program is that we recognized the importance of collaborating with professional societies very early on in the process, so that we can hear what kind of data and evidence they need to develop practice guidelines faster and more efficiently," Ramos said.

To that end, NHGRI has been working on the project with the American College of Medical Genetics, the Association for Molecular Pathology, the American Society for Human Genetics, and the College of American Pathologists, and it expects that the institution that hosts the resource will work with these groups as well.

Applicants for the funding would develop a multi-component strategy to engage and integrate with ongoing genomic variant research efforts, synthesize and curate data, develop a consensus on variants, and provide that information to professional organizations.

The institution will synthesize information from relevant databases, such as ClinVar, eMERGE, and PharmGKB, into one data resource, and it will work with clinical groups and professional and research organizations to develop a process for reviewing and evaluating these variants. It also will define up to 20 distinct domains into which these variants could be grouped, such as domains for cardiovascular disease or cancer.

NHGRI expects that the resource would create two or three of these domains in its first year and five to eight domains over the following three years.