Abstract
Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, LE1 5WW, UK *Author for correspondence: Tel.: +44 0 116 258 7597; julian.barwell@uhl-tr.nhs.uk On 25 September 2015, University Hospitals of Leicester National Health Service (NHS) Trust recruited its first family to the 100,000 Genomes Project. This project focuses on patients living in England with rare diseases and their families, and patients with cancer. Sequencing 100,000 genomes will enable scientists and doctors to understand more about specific conditions and how we treat them and will greatly enhance the genomic diagnostic capability in the NHS. Genomics England, a company owned by the Department of Health, is coordinating this work, while 11 NHS Genomic Medicine Centers (GMCs) have been established so far across England. The role of the NHS GMCs is to identify, recruit and consent patients, collect and process samples and capture and submit data through to the validation of the results, to enable clinicians to feed back information to patients and manage the treatment of individuals. University Hospitals of Leicester NHS Trust itself is part of the east of England NHS GMC. The primary aims of the project are: to bring benefit to NHS patients; to create an ethical and transparent program based on consent; to enable new scientific discovery and medical insights and to aid development of a UK genomics industry. This project has the potential to transform the future of healthcare, find conclusive diagnoses for rare diseases and revolutionize treatments. This review discusses familial breast cancer susceptibility, the aims, logistics and vision of the 100,000 Genomes Project and how the patients were recruited to the project [1].
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
