Standardizing Clinical NGS Applications—Based on ACMG Standards

Abstract

Next-generation sequencing (NGS)technology has been applied in clinical laboratories. The development of this technology, along with the expansion of testing scale and scope, has significantly reduced the cost of genetic testing. The clinical applications of NGS are continuously expanding, including targeted gene panel testing, individual exome, or whole-genome analysis. Moreover, NGS technology has further improved treatment decision-making and prediction for high-risk populations of certain diseases. However, the development of NGS also poses challenges, including the confusion of choices brought by sequencing platforms and technological updates, and the inconsistency of clinical validation of sequencing results. To help clinical laboratories better understand NGS technology, resolve issues related to clinical validation, and correctly select NGS sequencing platforms and methods, as well as to continuously monitor NGS and ensure high-quality sequencing results and their clinical interpretation, this article summarizes and discusses the professional standards and guidelines of the American College of Medical Genetics and Genomics (ACMG)regarding the clinical application of NGS technology. This is intended for reference by molecular diagnostic professionals in China when formulating domestic industry standards.