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Best Practice Guidelines for the Use of Next‐Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of D utch G enome D iagnostic L aboratories
Author(s) -
Weiss Marjan M.,
Zwaag Bert,
Jongbloed Jan D. H.,
Vogel Maartje J.,
Brüggenwirth Hennie T.,
Lekanne Deprez Ronald H.,
Mook Olaf,
Ruivenkamp Claudia A. L.,
Slegtenhorst Marjon A.,
Wijngaard Arthur,
Waisfisz Quinten,
Nelen Marcel R.,
Stoep Nienke
Publication year - 2013
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22368
Subject(s) - best practice , diagnostic test , molecular diagnostics , dna sequencing , genetic testing , clinical practice , genome , medical physics , computational biology , biology , computer science , data science , bioinformatics , medicine , genetics , gene , family medicine , emergency medicine , management , economics
Next‐generation sequencing ( NGS ) methods are being adopted by genome diagnostics laboratories worldwide. However, implementing NGS ‐based tests according to diagnostic standards is a challenge for individual laboratories. To facilitate the implementation of NGS in D utch laboratories, the D utch S ociety for C linical G enetic L aboratory D iagnostics ( VKGL ) set up a working group in 2012. The results of their discussions are presented here. We provide best practice guidelines and criteria for implementing and validating NGS applications in a clinical setting. We introduce the concept of “diagnostic yield” as the main performance characteristic for evaluating diagnostic tests. We recommend that the laboratory procedures, including the tested genes, should be recorded in a publicly available document describing the complete “diagnostic routing.” We also propose that laboratories should use a list of “core disease genes” for specific genetic diseases. This core list contains the essential genes for each disease, and they should all be included in a diagnostic test to establish a reliable and accurate molecular diagnosis. The guidelines will ensure a clear and standardized quality of care provided by genetic diagnostic laboratories. The best practice guidelines and criteria that are presented here were adopted by the VKGL in January 2013.