NIH Funds Next Phase of ClinGen Consortium’s Work

Sept. 30, 2021
Genomic researchers will aggregate evidence, collect expert knowledge, disseminate results to the research community and evaluate the impact of clinically relevant genes

The National Institutes of Health (NIH) will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.

The National Human Genome Research Institute (NHGRI) will provide the majority of the funding for the awards. The National Cancer Institute (NCI) will provide co-funding to support ClinGen’s cancer-related activities.

The use of genome sequencing in medical research and clinical practice has become more common in recent years, but the field has been limited by the lack of organized availability of information about which genes and genomic variants are relevant to human disease.

NHGRI established the ClinGen consortium in 2013 to fill that gap. The consortium works to identify which genes are associated with disease and which variants in those genes are disease-causing. Then, they work to standardize the way researchers document and share information about those variants.

To date, the ClinGen consortium has organized more than 60 expert panels, which have collected and archived the clinical impact of thousands of genes and genomic variants. During the next phase, new panels will be established in response to a funding opportunity issued by the Eunice Kennedy Shriver National Institute of Child Health and Human Development in partnership with the National Eye Institute, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, and the NCI. These new panels will use ClinGen frameworks to evaluate the clinical relevance of genes and genomic variants associated with diseases or conditions that are considered high priority to NIH.

“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,” says Erin Ramos, Ph.D., M.P.H., deputy director of the Division of Genomic Medicine at NHGRI, in a statement. “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.”

The consortium has also published both technical standards on how to interpret and report genomic variant information and guidelines for studies that evaluate polygenic risk scores. Researchers have used these ClinGen resources to improve the effectiveness, transparency and validity of their clinical genomics research.

The awardees for this renewal period will aggregate evidence, collect expert knowledge, disseminate results to the research community and evaluate the impact of clinically relevant genes. The consortium will also strive to create a diverse, equitable, and inclusive research environment for both the genomics workforce and the ClinGen tools and products. At the beginning of the renewal period, ClinGen will create a Diversity, Equity and Inclusion Action Plan to highlight its commitment to achieve these goals.

The awarded study sites will share these responsibilities and build upon their previous work with the ClinGen consortium:

• Heidi Rehm, Ph.D. Broad Institute, Cambridge, Massachusetts
Christa Martin, Ph.D., FACMG and Erin R. Riggs, M.S., CGC Geisinger, Danville, Pennsylvania 
Jonathan Berg, M.D., Ph.D. University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
Sharon Plon, M.D., Ph.D., and Aleks Milosavljevic, Ph.D. Baylor College of Medicine, Houston, Texas 
Teri Klein, Ph.D. Stanford University, Stanford, California

  A multidisciplinary team from Baylor and Stanford has led one of the consortium awards since 2013 and is now working on phase 3 of the project. The work at Baylor focuses on developing software infrastructure and computational approaches to enable researchers to scale up the current work, expand the number of genes in the resource and facilitate integration into healthcare delivery. This award will also fund research into cancer disease genes and expanding the use of ancestry and diversity in genetic research. “Supporting ClinGen’s international teams of experts in cancer genetics has been very rewarding. Through this work we help to minimize uncertainty in genetic test results so that patients at increased of cancer can get the guidance they need,” said Sharon Plon, M.D., Ph.D., co-principal investigator of the Baylor ClinGen project and professor of molecular and human genetics and pediatrics – hematology and oncology at Baylor.

The ClinGen team at UNC-Chapel Hill, led by Jonathan Berg, M.D., Ph.D., Bryson Distinguished Professor of Genetics and Medicine, was awarded a $24 million, five-year grant to scale biocuration and expert evaluation of genes and variants.  The grant includes key contributors at the American College of Medical Genetics and Genomics (ACMG), ARUP Laboratories, Baylor College of Medicine, Georgetown University, Kaiser Foundation Research Institute (KFRI), Massachusetts Eye and Ear Infirmary, Mayo Clinic, the University of Miami, and RTI International.

“Optimal clinical care depends on accurate information about the causes, natural history, and management of diseases,” said Berg, director of the Program in Precision Medicine in Healthcare at the UNC School of Medicine, in a statement.  “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. Our goal is for ClinGen to provide a readily accessible and trusted resource that can be used by diagnostic laboratories, providers, and patients.”

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