The Annual Report of the Chief Medical Officer 2016: Generation Genome, made clear that in order to achieve equitable access to genomic testing the National Health Service will need to implement a first-class genomic medicine service that is scalable, future proof and delivers value for money. The report also noted the work undertaken as part of the 100,000 Genomes Project. A copy of the report is attached.
- Provide consistent and equitable care for the country’s 55 million population;
- Operate to common national standards, specifications and protocols;
- Deliver to a single national genomic testing directory – covering use of all technologies from single gene to whole genome sequencing initially for rare disease and cancer;
- Give all patients the opportunity to participate in research (for individual benefit and to inform future care); and
- Build a national genomic knowledge base to provide real world data to inform.
A key element of the GMS is the National Genomic Test Directory which outlines the entire repertoire of genomic tests for cancer and rare and inherited disease – from Whole Genomic Sequencing to panel tests, to tests for single genes and molecular markers – that are available as part of the NHS clinical service in England.
The NHS GMS will be supported by an informatics system, that is being developed in partnership with Genomics England. When fully operational the National Genomics Informatics Service will enable NHS England to monitor the number of genomic tests being carried out across the country and benchmark activity.