The NHS’s uptake of Whole-genome sequencing (WGS) is a testament to the power of the innovative technology.

A new study published in The Lancet Neurology looked at the accuracy of WGS to detect repeat expansion disorders in patients who had previously been diagnosed using standard NHS tests. They concluded that the accuracy and sensitivity of WGS were comparable.

In the past, getting a definitive diagnosis for patients with ‘repeat expansion disorders’ like Huntington's' disease was complex and took a considerable amount of time. These disorders are caused by the insertion of short repetitive chunks of DNA into the genetic code which in some cases, stretches across long distances, because of this they can be difficult to quantify. 

That's where the power of WGS comes in! The study suggesting that WGS can quickly and accurately detect the most common inherited neurological disorders, and could be implemented in routine clinical practice with immediate effect.