New testing guidelines for hearing loss support next-generation sequencing: Testing method may help determine genetic causes of hearing loss among patients whose phenotypes are not easily distinguished clinically

摘要

Updated guidelines from the American College of Medical Genetics and Genomics (ACMG) recommend that clinicians consider next-generation sequencing (NGS) when testing for genetic causes of hearing loss. The latest recommendations, which build on guidelines issued in 2002, include panel tests targeted at genes related to hearing loss, whole-exome sequencing (WES), and whole-genome sequencing (WGS) after negative results are returned on initial single-gene testing indicated by a patient's family medical history and presentation.