A paper titled “Guidelines for diagnostic next-generation sequencing” was published by European Journal of Human Genetics today.

The article is freely available at here.

This was published for EuroGentest and the European Society of Human Genetics, as a set of guideline statements 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 article presented a total of 38 statements in the following categories: state of the art, Diagnostic/clinical utility, Informed consent and information to the patient and clinician, Validation, Reporting, Distinction between research and diagnostics.

The supplementary materials include many examples to assist the laboratories in the implementation of NGS and accreditation of this service.