As the name implies WGS analyses the entire genomic DNA sequence of an individual and looks at possible mutations and health indicators. The method developed by the researchers uses an algorithm that compares elements in the genome sequence of a healthy person with those affected by so-called repeat expansion disorders, caused by expansion in DNA repeats.
Scientists say the advantage of their method is that they can test "multiple variants at the same time".
"It is very exciting because it opens up the vista of a test that could end the diagnostic odyssey for many patients. This work paves the way for this to be implemented immediately within the NHS", said Professor Sir Mark Caulfield from Queen Mary University of London and former chief scientist at Genomics England.
Eileen Flynn, a patient at The Ataxia Centre at University College London Hospitals, was diagnosed with Friedreich's ataxia, a genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impairs speech.
"Over the last 15 years I've gone from someone who was confident, loved to dance and socialise to now using a walker and having slurred speech. Before my diagnosis, I thought it would be better if I had cancer as there's usually a clear path of action to help you fight the disease. Having a diagnosis isn't a cure, but at last I know what is happening and understand what I need to do to delay the inevitable for as long as possible", Eileen Flynn said.