2018 Volume 61 Issue 2 Pages 129-135
Gene analysis is an essential tool in medical diagnostics, and the next-generation sequencer (NGS) plays an important role. A rapid and exhaustive analysis is available with the NGS, which provides a massively parallel sequencing. However, NGS identifies an enormous number of variants, and adequate professional knowledge is required for the evaluation of their pathogenicity. Target sequencing for 63 deafness genes, followed by social health insurance-based screening for cases with any of 154 mutations in 19 deafness genes, usually reveals 300 to 400 variants in a patient. First, the variants are filtered by their allele frequencies, locations/types, and in silico analysis results. Second, the pathogenicity of the remaining variants is evaluated according to the American College of Medical Genetics and Genomics (ACMG) guideline. In the future, information on novel pathogenic variants, obtained from study-based genetic testing, will be added as items to the social health insurance-based screening, and is expected to be beneficial for patients with hearing loss.