Programs supported by the National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. NIH’s Clinical Genome Resource ClinGen and ClinVar programs address a major barrier to incorporating genomic medicine into health care, which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation, published on Oct. 12, highlights the broad array of advances made through these programs, which work in concert to advance knowledge connecting human genomic variation to human health.

The National Human Genome Research Institute (NHGRI) established ClinGen in 2013 with additional support from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Cancer Institute. The goal of ClinGen is to bring together clinical and research experts to develop standard processes for reviewing data about gene variants and their connections to health and disease. These experts then determine what each variant might mean for disease diagnosis and treatment. Information on the gene variants is stored in ClinVar, which is funded and maintained by NIH’s National Center for Biotechnology Information, part of the National Library of Medicine.

“Through the work of ClinGen and ClinVar, more than 730 researchers, clinicians, and curators from 230 institutions have been working together to standardize the evaluation of genes and genomic variants implicated in human disease,” said Eric Green, MD, PhD, NHGRI director. “Ultimately, these efforts will lead to improved implementation of genomic medicine and higher-quality patient care.”