‘Game changing’ DNA testing to speed up infant diagnosis

A new form of DNA Testing for rare diseases and critically ill babies and children is being provided on the NHS as part of its Long Term Plan.

The new technique, known as ‘whole exome sequencing’ aims to use world leading technologies to improve care for the sickest infants.

So far, 80 babies and children have received the new test, and almost half have been given a rare disease diagnosis.

The test doubles the chance of a diagnosis, and reduces waiting time for worried families from weeks to days.

Patients in England are amongst the first in the world to be routinely offered the tests, and it is expected that up to 700 babies and children will benefit from it each year.

Simon Stevens, chief executive of NHS England says:

“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.”

The difference between previous tests and ‘whole exome sequences’, pioneered by scientists in Exeter, is the ability to identify a range of potentially life-threatening conditions in one go instead of testing for specific conditions.

The testing will be able to detect rare neurological, metabolic and other conditions by identifying genetic mutations, helping to highlight particular treatments that patients are unlikely to respond to, saving unnecessary medication and potential side effects.

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.


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