February 9, 2015
EuroGentest have drafted guidelines for diagnostic next generation sequencing (NGS). EuroGentest members and other interested professionals were invited to comment on the guidelines. EuroGentest will integrate the comments and suggestions provided, after which the document will be sent to the ESHG Board for endorsement before becoming public.
Among other statements, the guideline delivers three major definitions: ‘diagnostic utility’, ‘quality scoring for NGS tests’, and ‘reportable range’. EuroGentest believe that defining the ‘diagnostic utility’ of the NGS test is the laboratory’s first duty when preparing to offer diagnostic NGS. The novel scoring system provided by EuroGentest for the different NGS assays depends on quality and comprehensiveness. With this system, referring physicians, patients and stakeholders in the health system will be able to compare different tests available on the market.