EQA for the National Genomic Test Directory

Descriptions

Building on the 100,000 Genomes Project and existing genetic services, In October 2018 NHS England announced the launch of the NHS Genomic Medicine Service (GMS) which will be mobilised as part of a transition period to take place over 18 months. The long term aims of the Genomic Medicine Service are to: oProvide consistent and equitable care for England’s 55 million populationoOperate to common national standards, specifications and protocols oDeliver to a single national genomic testing directory – covering use of all technologies from single gene to whole genome sequencing initially for rare disease and canceroGive all patients the opportunity to participate in research (for individual benefit and to inform future care)oBuild a national genomic knowledge base providing real world data This procurement relates to external quality assurance of the samples and the DNA material taken at NHS Genomic Laboratory Hubs as part of the new Genomic Medicine Service. Such sequencing requires high quality DNA and to ensure these samples are provided by the NHS Genomic Medicine Centres (GMCs), a range of external quality assessment (EQA) schemes are required. An assured lab network of GLHs will provide the required assurance to the wider GMS (including for clinical genetics services and Genomic Medicine Centres established as part of the 100,000 Genomes Project). The quality assurance measures are concentrated on 5 major areas below. NHS England are obligated to provide a quality assurance service to ensure samples collected are of high enough quality to extract a full genome.The required EQA service is as follows:•EQA for DNA extraction from blood samples•EQA for DNA extraction for formalin fixed paraffin embedded (FFPE) tissue samples•EQA for the measurement of DNA quality•EQA for the assessment of tumour content and cellularity•EQA for the National Genomic Testing Directory