Authors' recommendations: The term "next generation sequencing" (NGS) covers a range of techniques that are designed to map a person's entire genetic code quickly and relatively cheaply. This horizon-scanning report explores the benefits and issues associated with the use of these techniques in diagnosis. There are various levels of sequencing. One level is represented by gene panels consisting of a limited number of genes associated with specific disorders, such as cardiomyopathies. At another level, all of the protein-coding sections of the DNA (the exons) are sequenced. This is referred to as whole exome sequencing (WES). WES is used in cases where a disorder (such as severe intellectual disability) is suspected of having a genetic cause, but where the defect involved has not yet been traced to a specific gene (or genes). Alternatively, the entire genome – including all coding and non-coding sections – can be sequenced. This is referred to as "whole genome sequencing" (WGS) and is still primarily used for scientific research. Both WES and WGS can be used to analyse just a part of the sequenced code, similar to a gene panel. Accordingly, sequencing and the analysis of sequences are not necessarily the same thing.

Project Status: Completed

Year Published: 2015

URL for published report: http://www.gr.nl/sites/default/files/summary_ngs_in_diagnostiek_201501.pdf

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Netherlands

Organisation Name: Health Council of the Netherlands Gezondheidsraad

Contact Address: Postbus 16052, 2500 BB Den Haag, The Netherlands. Tel: +31 70 340 7520;Fax: +31 70 340 7523

Contact Name: info@gr.nl

Contact Email: info@gr.nl

Copyright: Health Council of the Netherlands