At 23Strands we know how powerful whole-genome sequencing can be for the diagnosis, management and treatment of rare illnesses. Recently the NHS has been investigating the benefits of using whole-genome sequencing throughout England.
The use of whole-genome sequencing could save the NHS millions of pounds, a study suggests, after it found a quarter of people with rare illnesses received a diagnosis for their condition through the technology. Though individually uncommon, rare inherited diseases affect about 6% of the UK population or roughly 3 million people. In some cases, the findings have provided reassurance for families that they have not passed their condition on to their children, while in others they have inspired life-changing treatments.