NHS England to roll out genetic testing for rare diseases and cancer

In 2013 the Department of Health set up Genomics England to create a unique dataset of anonymous whole genome DNA sequences matched with clinical data, the 100,000 Genomes Project. NHS England established 13 centres across the country where patients and family members could volunteer to take part in the project with their informed consent, have samples collected for DNA and have clinical information recorded for interpretation of their genome sequences. On 4 July 2018, as the NHS celebrated its 70th anniversary, a Genomics England report predicted that the project would reach its goal of 100,000 genomes by the end of 2018. Professor Mark Caulfield, Chief Scientist at Genomics England, said that the project has already changed the lives of many patients with cancer or a rare disease.

From early October NHS England will launch a new Genomic Medicine Service for routine care across the country by linking hospitals to specialist genomic centres. Together with clinical information, analysis of the DNA of patients and their families will help with the diagnosis of rare diseases, and analysis of the DNA of frozen operation specimens from patients with cancer will help match them to the best treatment. Both will provide data for new discoveries. The new routine service will have continued support from Genomics England and is being discussed with the other UK countries.

A Lab Tests Online article, The Universe of Genetic Testing, describes the basis of gene analysis and reviews the potential range of applications.