NHS Genomic Medicine Centre Services (100 000 Genomes).

Descriptions

On 10.12.2012, the Prime Minister announced that the Government intended to achieve a paradigm shift in the way that genomics is used across the NHS. To provide the catalyst for this change and to accelerate the benefits to NHS patients stemming from innovations in genomics, the Government committed to sequencing 100 000 whole human genomes by the end of 2017.Successful delivery of the 100 000 Genome Project will position the NHS as world leaders in realising a new era of personalised medicine for the benefit of patients, and will build upon the excellent work the NHS and its academic partners have already delivered in the field of molecular medicine, molecular genetics and cytogenetics. The research opportunities and mainstream use of genomic medicine that will flow from this project also stand to make a major contribution toward economic growth in this country through establishing the UK as the leading international base for genomics science and industry.The 100 000 Genome Project is focused on sequencing the whole genome of patients with rare/inherited diseases and certain common cancers and will further enhance our understanding of the genetic basis underlying these conditions, together with how they are expressed within an individual (phenotype). This cutting edge programme has the potential to drive transformational change in service delivery and workforce, from obtaining informed consent from patients, to obtaining, processing and archiving of samples yielding high-quality DNA, to the application of whole genome sequencing and its analysis and confirmation of clinically relevant DNA variants.The analysis requires the application of new skills and expertise in specialist areas such as bioinformatics and computational biology. In addition, the different clinical specialities of the NHS workforce will need to gain an improved understanding of the value of genomics to clinical care and how to communicate findings with patients and their close relatives.The 100 000 Genome Project is a hugely ambitious programme and builds on preceding initiatives such as the 1 000 Genomes, UK10K, Deciphering Developmental Disorders (DDD) and National Institute for Health Research (NIHR) BioResource projects. The NHS, supported by its academic partners, has been at the forefront of early implementation of scientific breakthroughs in service delivery. The NHS, in close partnership with its academic partners and companies in the private sector, is ideally placed to be at the forefront of translating genomics into improved patient care. Through the 100 000 Genome Project, the NHS in England will be the first mainstream health service in the world to offer genomic medicine, initially for some rare/inherited diseases and cancer, but increasingly in other domains of care delivery.The estimated time-scales for this agreements are for contract go live in January 2016 with a contract end date of December 2017.