1. Guidelines for diagnostic next-generation sequencing

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, PhD 1 Erika Souche, PhD 1 Mariëlle Alders, PhD 2 Anniek Corveleyn 1 Sebastian Eck 3 Ilse Feenstra, PhD 4 Valérie Race 1 Erik Sistermans, PhD 5 Marc Sturm, PhD 6 Marjan Weiss, PhD 5 Helger Yntema, PhD 4 Egbert Bakker, PhD 7 Hans Scheffer, PhD 4 Prof. Peter Bauer, MD 6
1 University of Leuven 2 University of Amsterdam 3 Center for Human Genetics and Laboratory Medicine Martinsried 4 Radboud University Medical Centre Nijmegen 5 VU University Medical Center Amsterdam 6 University Hospital of Tübingen 7 Leiden University Medical Center
October 28, 2016

European Journal of Human Genetics (2016) 24, 2 – 5; doi:10.1038/ejhg.2015.226;


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 fi eld 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.