Guidelines for diagnostic next-generation sequencing

TLDR

Guidelines from other groups over the past few years were considered and acknowledged in the full text. The paper presents guidelines for evaluating and validating next‑generation sequencing applications in diagnosing genetic disorders. The guidelines were developed by laboratory geneticists, bioinformaticians, clinical geneticists, industry, and patient representatives, and are provided as supplementary material. The guidelines include practical examples, a novel rating system for NGS tests, and have been praised for advancing harmonization and quality assurance in European NGS diagnostics.

Abstract

Abstract We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients’ representatives, and other stakeholders in the field of human genetics. The statements that were written during the elaboration of the guidelines are presented here. The background document and full guidelines are available as supplementary material. They include many examples to assist the laboratories in the implementation of NGS and accreditation of this service. The work and ideas presented by others in guidelines that have emerged elsewhere in the course of the past few years were also considered and are acknowledged in the full text. Interestingly, a few new insights that have not been cited before have emerged during the preparation of the guidelines. The most important new feature is the presentation of a ‘rating system’ for NGS-based diagnostic tests. The guidelines and statements have been applauded by the genetic diagnostic community, and thus seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.