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
The article discusses the challenges and advancements in the clinical interpretation of genetic variations, particularly in the context of hypertrophic cardiomyopathy. It highlights a case where a patient's family pursued genetic testing, leading to the identification of a "likely pathogenic" variant. However, years later, this variant was reinterpreted as "likely benign" by another laboratory, highlighting the importance of consistent and accurate variant interpretation. The article emphasizes the need for collaborative efforts and public databases like ClinVar to improve the understanding and clinical application of genetic variations. ClinGen, a collaborative program funded by the National Institutes of Health, aims to standardize the clinical annotation and interpretation of genomic variants, improve the understanding of variation in diverse populations, and enhance the use of genomic information in electronic health records. The article also outlines the goals and structure of ClinGen, including the development of interconnected community resources and the establishment of working groups to address key challenges in genomic research and clinical care.The article discusses the challenges and advancements in the clinical interpretation of genetic variations, particularly in the context of hypertrophic cardiomyopathy. It highlights a case where a patient's family pursued genetic testing, leading to the identification of a "likely pathogenic" variant. However, years later, this variant was reinterpreted as "likely benign" by another laboratory, highlighting the importance of consistent and accurate variant interpretation. The article emphasizes the need for collaborative efforts and public databases like ClinVar to improve the understanding and clinical application of genetic variations. ClinGen, a collaborative program funded by the National Institutes of Health, aims to standardize the clinical annotation and interpretation of genomic variants, improve the understanding of variation in diverse populations, and enhance the use of genomic information in electronic health records. The article also outlines the goals and structure of ClinGen, including the development of interconnected community resources and the establishment of working groups to address key challenges in genomic research and clinical care.