Although rare diseases may be individually rare, they are collectively common, with 1 in 17 people being affected by a rare disease at some point in their lives.
This national NHS Genomic of Excellence will focus on how to help patients get a diagnosis faster, as well as seek to reduce genomic health inequalities; develop new testing approaches, especially for those patients with a suspected rare disease that remain undiagnosed using current genomic testing in the NHS GMS; increase the efficiency of analysis; and increase capacity for rare condition clinical trials.
This NHS Genomic Network of Excellence will align with NIHR BRCs in Exeter, Manchester and Bristol and will develop industry sequencing provider partnerships including with Illumina and Oxford Nanopore.