Hum Mutat. 2013 Jun 17. doi: 10.1002/humu.22368. [Epub ahead of print]
Best Practice Guidelines for the Use of Next Generation Sequencing (NGS) Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories.
Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, Van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N.
Dept. of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.
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 Dutch laboratories, the Dutch Society for Clinical Genetic Laboratory Diagnostics (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, are recorded in a publicly available document describing the complete 'diagnostic routing'. We also propose 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 Dutch Society for Clinical Genetic Laboratory Diagnostics in January 2013. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
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