June 4, 2015 | Heidi L. Rehm, Ph.D., Jonathan S. Berg, M.D., Ph.D., Lisa D. Brooks, Ph.D., Carlos D. Bustamante, Ph.D., James P. Evans, M.D., Ph.D., Melissa J. Landrum, Ph.D., David H. Ledbetter, Ph.D., Donna R. Maglott, Ph.D., Christa Lese Martin, Ph.D., Robert L. Nussbaum, M.D., Sharon E. Plon, M.D., Ph.D., Erin M. Ramos, Ph.D., Stephen T. Sherry, Ph.D., and Michael S. Watson, Ph.D., for ClinGen
ClinGen, the Clinical Genome Resource, is a collaborative initiative aimed at improving the interpretation of genetic variants in clinical settings. The article describes a case where a genetic variant initially classified as "likely pathogenic" was later reclassified as "likely benign," highlighting the need for standardized and shared interpretations of genetic variants. This case underscores the challenges in interpreting genetic variants due to the lack of a unified, publicly available database for variant interpretations. Over 80 million genetic variants have been identified, but the majority remain unclear in their role in health and disease. The silo effect, where different entities maintain isolated databases, hinders the sharing of critical knowledge.
ClinGen, supported by the National Institutes of Health (NIH), aims to address these challenges by developing interconnected resources to improve understanding of genomic variation and its use in clinical care. The ClinVar database, a cornerstone of ClinGen, serves as a public archive of variant data and annotations. It allows researchers, clinical laboratories, and patients to submit and share variant information, enabling the identification of variants that have been misinterpreted. ClinGen also works with expert panels and other organizations to develop standards for interpreting genetic variants and to facilitate the open sharing of interpretations.
ClinGen has established working groups to tackle key challenges, including the standardization of procedures for evaluating genes, variants, genetic disorders, and phenotypes. These groups focus on improving the accuracy of phenotype information, developing standards for gene-disease relationships, and enhancing the interpretation of genetic variants. ClinGen also promotes the use of machine learning and expert review to prioritize variant curation and improve the efficiency of results.
The article emphasizes the importance of collaborative efforts in genomic research and clinical care, highlighting the potential of ClinGen to improve the interpretation of genetic variants and enhance patient care. ClinGen is funded by the National Human Genome Research Institute and other organizations, with the goal of creating a robust reference database that supports better health care through the accurate interpretation of genetic information.ClinGen, the Clinical Genome Resource, is a collaborative initiative aimed at improving the interpretation of genetic variants in clinical settings. The article describes a case where a genetic variant initially classified as "likely pathogenic" was later reclassified as "likely benign," highlighting the need for standardized and shared interpretations of genetic variants. This case underscores the challenges in interpreting genetic variants due to the lack of a unified, publicly available database for variant interpretations. Over 80 million genetic variants have been identified, but the majority remain unclear in their role in health and disease. The silo effect, where different entities maintain isolated databases, hinders the sharing of critical knowledge.
ClinGen, supported by the National Institutes of Health (NIH), aims to address these challenges by developing interconnected resources to improve understanding of genomic variation and its use in clinical care. The ClinVar database, a cornerstone of ClinGen, serves as a public archive of variant data and annotations. It allows researchers, clinical laboratories, and patients to submit and share variant information, enabling the identification of variants that have been misinterpreted. ClinGen also works with expert panels and other organizations to develop standards for interpreting genetic variants and to facilitate the open sharing of interpretations.
ClinGen has established working groups to tackle key challenges, including the standardization of procedures for evaluating genes, variants, genetic disorders, and phenotypes. These groups focus on improving the accuracy of phenotype information, developing standards for gene-disease relationships, and enhancing the interpretation of genetic variants. ClinGen also promotes the use of machine learning and expert review to prioritize variant curation and improve the efficiency of results.
The article emphasizes the importance of collaborative efforts in genomic research and clinical care, highlighting the potential of ClinGen to improve the interpretation of genetic variants and enhance patient care. ClinGen is funded by the National Human Genome Research Institute and other organizations, with the goal of creating a robust reference database that supports better health care through the accurate interpretation of genetic information.