In an effort to continue building the Clinical Genome (ClinGen) resource, the National Institutes of Health (NIH) will be renewing three awards amounting to $73.2 million over five years. The efforts aim to gather and archive information related to clinically relevant genes and genomic variants for use in precision medicine.
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The National Human Genome Research Institute (NHGRI) will offer a major portion of the funding for the awards. The National Cancer Institute (NCI) will offer co-funding to promote ClinGen’s cancer-related activities.
In recent years, it has become more common to use genome sequencing in medical research and clinical practice. However, the field has been restricted by the lack of organized accessibility to information about which genes and genomic variants are relevant to human disease.
In 2013, NHGRI set up the ClinGen consortium to bridge that gap. The consortium strives to determine the genes that are associated with disease and the variants in those genes that cause disease. Then, they aim to standardize how researchers document and share information related to those variants.
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. 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, PhD, MPH, Deputy Director, Division of Genomic Medicine, NHGRI
Thus far, the ClinGen consortium has arranged for over 60 expert panels, which have gathered and archived the clinical effect of thousands of genes and genomic variants.
As a next step, new panels will be set up in response to a funding opportunity offered by the Eunice Kennedy Shriver National Institute of Child Health and Human Development in collaboration with the National Eye Institute, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, and the NCI.
The new panels will employ ClinGen frameworks to assess the clinical relevance of genes and genomic variants related to diseases or conditions regarded as high priority to NIH.
The consortium has also reported both technical standards on ways to interpret and report genomic variant information, as well as guidelines for studies assessing polygenic risk scores. Researchers employed these ClinGen resources to enhance the transparency, effectiveness, and validity of their clinical genomics research.
The awardees for this renewal period will combine evidence, gather expert knowledge, distribute results to the research community, and assess the effect of clinically relevant genes.
Moreover, the consortium will make efforts to develop an equitable, diverse, and inclusive research environment for both the genomics workforce and the ClinGen tools and products. During the start of the renewal period, ClinGen will develop a Diversity, Equity, and Inclusion Action Plan to emphasize its commitment to accomplishing these goals.
In the renewal period, the consortium will continue to engage patients, researchers and medical professionals to increase the reach of ClinGen as well as the diversity of the patient and population data used for identifying clinically relevant genes.”
Joannella Morales, PhD, Program Director, Division of Genomic Medicine, NHGRI