The NIH (NHGRI and NICHD) has awarded more than $25 million over the course of 4 years for the development of the Clinical Genome Resource (ClinGen). The aim of ClinGen is to provide a framework for the evaluation of genetic variants that are clinically relevant, working with the NCBI which will distribute this information through the ClinVar database.
PharmGKB is very excited to be part of ClinGen through the program led at Stanford by co-investigators Carlos Bustamante, Mike Cherry and Teri Klein (for the PGx aspects). PharmGKB will be responsible for curating clinically relevant variants associated with drug response.
ClinGen will be developed by a consortium made up of 3 groups, each with different but complementary goals:
1. Development of standards for data collection and depositing into ClinVar, development of standards to analyze variants and determine whether they cause disease or are medically useful.
Investigators from: Brigham & Women’s Hospital, Boston; Geisinger Health System, Danville, PA; University of Utah, Salt Lake City; University of California, San Francisco.
2. Develop and apply computing methods to process and analyze variants more effectively, determine which genomic variants have strong evidence for disease risk/ clinically important and prioritize variants for further study utilizing informatics tools and databases, and improve predictions for which variants are associated with disease-risk in non-white populations.
Investigators from: Stanford University, Palo Alto, CA; Baylor College of Medicine, Houston.
3. Defining categories of clinical relevance that can be assigned to genetic variants and study ways to integrate this into electronic medical records.
Investigators from: University of North Carolina, Chapel Hill; American College of Medical Genetics and Genomics, Bethesda, MD.