'Game-changing' DNA test to rapidly diagnose rare diseases for children

A new ‘game-changing’ DNA test on the NHS is said to be able to rapidly diagnose rare diseases for critically ill babes and children.

NHS England patients will be among the world’s first to be offered a test known as ‘whole exome sequencing’, which can diagnose a rare disease in half the time it currently takes. This means families can be given results in days rather than weeks.

The test was developed by scientists in Exeter and is able to detect rare neurological, metabolic or other conditions by identifying genetic mutations. More so by showing which patients are unlikely to respond to particular treatments, the test can save patients needing to take unnecessary medication and experience potential side effects.

So far, the test has been delivered to 80 babies and children with around half being given a rare disease diagnosis. NHS England state that up to 700 babies and children will benefit from the new test every year.

Simon Stevens, chief executive of NHS England said: “Once again the NHS is at the forefront of the genomic revolution with patients in England the first to be routinely offered this cutting edge treatment as part of the Long Term Plan.

“This quick and accurate new test means rapid diagnosis and reassurance for families when they need it most and give babies and children the best chance of a healthy and happy life.

“In the last year alone, scores of patients have received game-changing new treatments such as CAR-T therapy and targeted radiotherapy at the NHS’s new £125 million Proton Beam centre.

“Over the next decade the NHS will continue to expand the range of personalised, precision medicines, including rolling out genomic testing to all people with rare diseases and patients with cancer.”

In the past year, the NHS has rolled out a range of national genomic medicine services. In particular, the NHS has set up a national genomic testing network, mandated the use of a national genomics test directory and developed a genomics education scheme for NHS workers, all part of its Long Term Plan.

Health and social care secretary Matt Hancock said: “I’m a passionate believer in the huge potential that technologies like genomics have to transform and improve people’s lives.

“The pain for families seeking a diagnosis for their sick children is unimaginable. These cutting edge DNA tests will much more rapidly diagnose rare diseases, helping to put an end to uncertainty and allowing children to receive the best possible treatment.

“This kind of genomic technology is game changing for the NHS, and will complement our existing commitment to offer whole genome sequencing to children with cancer and rare genetic disorders.

“It’s one step forward, and over the coming years we will expand the use of genomic testing right across the NHS. It’s all part of our NHS Long Term Plan, backed by our record financial commitment for the NHS of £33.9 billion extra a year within the next five years.”