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NIH Pumps $25M into Efforts to Assess Clinical Relevance of Gene Variants

NEW YORK (GenomeWeb News) – A consortium of three teams of researchers spread across several US universities and hospitals have won more than $25 million in National Institutes of Health funding to create a clinical genomics resource of human DNA variants that are relevant to diseases and patient care, NIH said today.

The consortium of groups will use the four years of funding to create the Clinical Genome Resource (ClinGen). The ClinGen consortium will develop and implement a framework for evaluating which variants are involved in disease and are relevant to care, and will work with the National Center for Biotechnology Information, which will distribute the information on these variants through its ClinVar database.

Once these groups develop consensus about which variants are clinically valuable they will partner with professional organizations to develop guidelines for how these variants might be used in clinical practice.

The ClinGen grants were funded by the National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

"With the genomic advances being witnessed every week, this resource should help in developing effective systems that will allow doctors to understand the role of genomic variants in disease and to use genomic information about their patients to improve their care," NHGRI Director Eric Green said in a statement.

Erin Ramos, NHGRI's program director in the Division of Genomic Medicine, said that many groups have their own protocols for assessing whether genomic variants are clinically relevant. "We have to agree on what evidence is needed to decide whether the effects of a variant are medically relevant, and to make that evidence available to the public as well as the research and clinical communities," Ramos said.

"There are about 2,000 separate databases on specific genes and diseases," added Lisa Brooks, director of the Genetic Variation Program in the NHGRI Division of Genome Sciences. "We expect that this central effort partnered with ClinVar will make this information more easily available and widely used."

One of the awards provides $8.3 million to partners at Brigham and Women's Hospital; Geisinger Health System; the University of Utah; and the University of California, San Francisco.

These partners have formed the International Collaboration for Clinical Genomics, which will develop standards for gathering and depositing data into ClinVar. They will work with clinical labs and gene databases to obtain data sets on genomic variants and disease associations, and will analyze variants to determine whether they may cause disease or are useful in care.

This group also will develop standards to analyze variants and determine whether they are potentially disease-causing and medically useful.

Another grant provides $8.4 million to a group involving researchers at the University of North Carolina, Chapel Hill, Geisinger Health System, and the American College of Medical Genetics and Genomics.

This team plans to define categories of clinical relevance for variants. They plan to organize clinical working groups with expertise in molecular genetics, cancer, cardiovascular disease, and other areas to evaluate genetic variants for their clinical relevance. These partners also plan to study ways that this genetic data may be integrated into electronic health records.

A team at Stanford University and Baylor College of Medicine was awarded $8.4 million to use computational and informatics tools and databases to determine which genomic variants are strongly associated with disease risk, and to prioritize these for more research.

This group also plans to develop and use computing methods to process variants more swiftly than is now possible, and to improve the predictions of which variants are associated with disease risk in non-white populations. These partners also plan to coordinate with ClinVar to disseminate the ClinGen data through public websites.