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2016 ; 24
(1
): 2-5
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Guidelines for diagnostic next-generation sequencing
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Matthijs G
; Souche E
; Alders M
; Corveleyn A
; Eck S
; Feenstra I
; Race V
; Sistermans E
; Sturm M
; Weiss M
; Yntema H
; Bakker E
; Scheffer H
; Bauer P
Eur J Hum Genet
2016[Jan]; 24
(1
): 2-5
PMID26508566
show ga
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.
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