Whole genome sequencing detects most common inherited neurological diseases

Whole genome sequencing (WGS) can quickly and accurately detect the most common inherited neurological disorders - something previously thought to be impossible - according to a new study co-led by UCL researchers. The scientists say the results support the use of WGS as a standard diagnostic tool within routine clinical practice. The study, published today in The Lancet Neurology , was led by Queen Mary University of London, Illumina, UCL and Genomics England, in conjunction with NHS England, and assessed the diagnostic accuracy of WGS against the test used as standard across the NHS. This study evaluated the role of WGS in the commonest causes of inherited neurological diseases that usually require multiple tests, a process that results in a long diagnostic odyssey. These repeat expansion disorders have short repetitive DNA sequences that cause disorders such as Fragile X syndrome (intellectual disability), Huntington's disease, Friedreich's ataxia and some forms of amyotrophic lateral sclerosis (ALS) and frontal lobe - or frontotemporal - dementia. The study first analysed the accuracy of WGS to detect repeat expansion disorders by comparing the test currently in use, PCR (polymerase chain reaction), with WGS from 404 patients previously tested in the NHS. The findings highlighted the accuracy and sensitivity of WGS in detecting these kinds of conditions was equivalent to using PCR tests.