Usefulness and pitfalls of genetic testing using next-generation sequencing

Noguchi Yoshihiro, Nishio Shin-ya, Usami Shin-ichi

doi:10.11289/otoljpn.31.125

<p>Thus far, more than 120 causative genes for hereditary hearing loss have been discovered. The remarkable progress in DNA sequencing technology has contributed to this discovery. Massively parallel DNA sequencing using next-generation sequencing (NGS) has emerged as a standard for genetic testing, plays an important role, provides rapid genetic diagnosis, and improves the diagnostic rate. However, NGS detects a huge number of variants, and adequate knowledge is needed to evaluate their pathogenicity. The pathogenicity of the identified variants is classified into pathogenic, likely pathogenic, uncertain significant, likely benign, and benign according to the American College of Medical Genetics and Genomics guidelines. A variant with uncertain significance has a broad pathogenicity, ranging from 10% to 90%. Therefore, careful genetic counseling regarding the pathogenicity of the variant is required. Moreover, we should not interpret that a genetic factor is not related to the hearing loss when no apparent causative variant is detected on genetic testing.</p>

Usefulness and pitfalls of genetic testing using next-generation sequencing

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