Massively parallel sequencing has long entered clinical care for pediatric and adult nephrology patients, where a genetic etiology is considered after appropriate clinical evaluation.1 However, technological advances in genetic testing have outpaced the capacity to interpret the wealth of genetic data generated. Currently, the pathogenicity of a given variant is assigned to 1 of 5 categories (from “benign” to “uncertain significance” to “pathogenic”) using a framework established by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, integrating population, computational, functional, and segregation data.
Massively parallel sequencing has long entered clinical care for pediatric and adult nephrology patients, where a genetic etiology is considered after appropriate clinical evaluation.1 However, technological advances in genetic testing have outpaced the capacity to interpret the wealth of genetic data generated. Currently, the pathogenicity of a given variant is assigned to 1 of 5 categories (from “benign” to “uncertain significance” to “pathogenic”) using a framework established by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, integrating population, computational, functional, and segregation data.