Genome hope for rare disease patients

MAPPING the full genetic code of people suffering mystery illnesses can find a diagnosis or cause faster, world-first research reveals.

Around three million people in the UK suffer from genetic illnesses and some never find the root of it.

But in a pilot study of whole genome sequencing for NHS patients, one in four in the dark about his or her condition got a diagnosis.

The method was more successful than conventional tests and could spare vital resources by getting the right treatment sooner.

The findings have already fed into the development of the NHS Genomic Medicine Service, which aims to offer genome sequencing to hundreds of thousands of patients in the next few years.

They have also been published in the hope the world will follow. Professor Dame Sue Hill, chief scientific officer for England, said: “It can fundamentally change how we think about disease, lead to faster, more comprehensive and accurate diagnoses...and pave the way for more tailored and effective treatments for patients.”

The human genome contains around 20,000 genes, made up of DNA, which provide instructions for the body to make the specific proteins it needs to function. Some diseases are caused by a single change in their DNA. Whole genome sequencing can identify that change. It takes around two days and costs under £1,000.

Genomics England and Queen Mary University of London mapped the genome of 4,600 patients.

More than 25 per cent got a diagnosis – 14 per cent of those would have been missed by other testing.