Answering your questions about the 100,000 Genomes Project
Last Reviewed 19/09/2016
By miriam ingram, swan uk
Last month we held a Twitter Takeover on behalf on Genomics England to discuss the 100,000 Genomes Project and answer queries about eligibility.
We had three specialists over @SWAN_UK to answer questions: Trevor Cole, Consultant in Clinical and Cancer Genetics at Birmingham Women’s NHS Foundation Trust, Ed Blair a Clinical Genetics Consultant at Oxford University Hospitals NHS Foundation Trust and Ellen Thomas, Honorary Consultant in Clinical Genetics and Clinical Lead for NHS Genomic Medicine.
The 100,000 Genomes Project is sequencing whole genomes from NHS patients with rare diseases who receive treatment in England. Separate projects are planned in Scotland, Northern Ireland and Wales.
The sequencing will provide many participants with a diagnosis for the first time. Not everyone who takes part will receive a diagnosis, with the main benefits likely to be for other patients in the future.