New Study Demonstrates That Whole Genome Sequencing Can Be Used As a Routine Diagnostic for Patients With Neurological Disorders
Originally published on LinkedIn
By Ryan Taft
A study published in Lancet Neurology, led by Genomics England in collaboration with Illumina, demonstrates that whole genome sequencing (WGS) can be used as a routine diagnostic for patients with neurological disorders.
WGS performance was evaluated in a cohort of 404 patients, and then applied to more than 11,000 undiagnosed cases yielding 68 confirmed diagnoses. These results show that WGS can quickly and accurately detect the most common neurological disorders caused by repeat expansions including Huntington’s disease, Friedreich's ataxia (FA), some forms of amyotrophic lateral sclerosis (ALS) and other movement disorders.
These findings supported implementation of whole genome sequencing for detection of repeat expansions in the NHS England National Genomic Test Directory; and point to a future where patients with neurological disorders will receive WGS as standard of care.
Special thanks to Arianna Tucci and Kristina Ibáñez Garikano for leadership and collaboration on this multi-year effort.
For additional information and resources:
Read the Study originally published on The Lancet Neurology
