The National Institutes of Health will renew three awards totaling $73.2 million over the next five years to expand a precision medicine effort at several large systems and medical schools.
Five institutions and principal investigators will receive the awards: Christa Martin and Erin Riggs at Geisinger Health System, Jonathan Berg at the University of North Carolina at Chapel Hill, Sharon Plon and Aleks Milosavljevic at Baylor College of Medicine, Teri Klein at Stanford University, and the Broad Institute’s Heidi Rehm.
They all work on to Clinical Genome resource, a publicly available, evolving archive of clinically relevant genes and genomic variants with relevance to precision medicine.
The National Human Genome Research Institute will provide the majority of the funding for the awards and the National Cancer Institute will provide co-funding to support ClinGen’s cancer-related activities.
The NHGRI established the ClinGen consortium in 2013, aiming to fill an unmet need for an organized repository of genes and genomic variants relevant to human disease — a database of which variants in disease-associated genes are pathogenic and which are benign.
According to the NIH, the consortium has organized more than 60 expert panels, which have collected and archived the clinical impact of thousands of genes and genomic variants over its first eight years. It has also published technical standards on how to interpret and report variants, and guidelines for studies that evaluate polygenic risk scores.
“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,” Erin Ramos, deputy director of the Division of Genomic Medicine at NHGRI, said in a statement.
During the next phase, new panels will be established to continue this work, focusing on diseases or conditions that are considered high priority to NIH.
Award recipients are also tasked with fostering a diverse, equitable, and inclusive research environment for both the genomics workforce and the ClinGen tools and products.
This story first appeared in our sister publication, Genomeweb.