DNA tests to provide rapid diagnosis of rare diseases in critically ill infants

By Sally Robertson, B.Sc.Reviewed by Kate Anderton, B.Sc. (Editor)Jan 3 2020

NHS England will now provide new DNA testing that can rapidly diagnose rare diseases in critically ill babies and children. The tests are being made available as part of the NHS Long Term Plan to use world-leading techniques to improve healthcare for critically ill infants.

Image Credit: Dmitry Kalinovsky / Shutterstock.com

Since the technique was introduced in October 2019, around 80 babies and children have been tested and almost half have received a diagnosis.

Just one year since the NHS committed to harnessing the power of DNA mapping with the launch of the Genomic Medicine Service in England, these patients are amongst the first in the world to receive the testing as part of routine care.

The NHS hopes that in the future, up to 700 patients will benefit each year.

“The NHS is at the forefront of the genomic revolution”

NHS England’s chief executive Simon Stevens 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 gives babies and children the best chance of a healthy and happy life.”

Whole exome sequencing

The technique, called “whole exome sequencing,” identifies rare neurological, metabolic or other conditions by detecting genetic mutations and can help to inform doctors which patients would or would not respond to treatment, thereby saving unnecessary intervention and side effects.

It doubles the chance of a diagnosis, compared with standard methods, and can identify disease in days rather than weeks, thereby reducing the waiting time for worried families.

Unlike standard tests that look for specific conditions one at a time, whole-exome sequencing can detect various life-threatening diseases simultaneously. It can scan approximately 20,000 genes in just 27 hours, a process that previously took up to ten days. This means a more rapid diagnosis of around 5,000 rare diseases.

NHS will continue to expand the range of personalized medicine

Stevens says that in just the past year, many patients have received game-changing new treatments at the NHS’s new Proton Beam Center and that over the next decade, the NHS will continue to expand the range of personalized, precision medicines. This will include the roll-out of genomic testing to all people with rare diseases and patients with cancer.

Health and social care secretary, Matt Hancock, says he believes passionately in the huge potential technologies such as 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.”

Matt Hancock, Health and Social Care Secretary for the UK

Hancock called the technology, “game changing for the NHS,” saying it will complement the existing commitment to offer whole genome sequencing to children with cancer and rare genetic disorders:

“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.”

Chief scientific officer for England, Dame Sue Hill, says the past year has seen the roll-out of a new Genomic Medicine Service across the NHS, building on the successes of the 100,000 Genomes Project and helping keep the UK at the forefront of the genomic revolution.

The introduction of rapid exome sequencing will complement the extensive range of cutting-edge genomic technologies and testing that will be available on the NHS to deliver improved patient care.”

Dame Sue Hill