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New NHS DNA test could ‘rapidly diagnose’ rare illnesses in babies

A new form of DNA testing could rapidly diagnose rare diseases in critically ill babies and children, potentially benefitting up to 700 patients each year.

The new technique being dubbed “whole exome sequencing” has been tested on 80 babies and children, with almost half being given a diagnosis for their rare disease as a result.

The test “doubles” the chance of a diagnosis and can reveal what is wrong with patients in days rather than weeks, “reducing waits for worried families” claims NHS England.

The sequencing technique can identify a range of potentially life-threatening conditions all in one go, rather than standard tests which usually are limited to looking for specific conditions. It can also detect rare neurological, metabolic or other conditions by identifying genetic mutations and helps to show which patients are unlikely to respond to particular treatments – saving unnecessary medication and potential side effects.

The “quick and accurate” test means “rapid diagnosis and reassurance for families when they need it most” and can “give babies and children the best chance of a healthy and happy life” commented Simon Stevens, chief executive of NHS England.

He continued to say “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.”

The technology has also been hailed as “game changing” by health and social care secretary Matt Hancock, who called it “one step forward.”

He continued to say that “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.”

The routine is part of the NHS’ Long Term Plan, which intends to use world leading technologies to improve care for the sickest infants.