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Diagnosis of ill babies and children to be fast tracked by DNA testing

A new form of DNA testing is being provided by the NHS in England which is capable of diagnosing diseases for ill children and babies. The new tests are part of NHS England’s Long Term Plan to implement and use world-leading technologies for the improvement of care for the sickest of infants.

80 children and babies have been tested using this new method, and nearly half were diagnosed with their rare disease.

The technique called “whole exome sequencing” increases the chance of being diagnosed twice as fast, which brings waiting time down to days rather than weeks.

Exome sequencing can identify a wide range of life-threatening illnesses all at once, instead of only specific conditions like many other tests do.

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 testing can detect and identify rare metabolic and neurological conditions which then prevents unnecessary treatments that would not work in specific patients, preventing potential side effects.

Henry, the son of Lauren Dunn spent several months in intensive care after being born prematurely and showed signs of problems that had nothing to do with his early birth. Doctors then sent his DNA for exome sequencing and in a few days the Exeter team, who developed the ground-breaking tests, could identify that Henry had Costello syndrome. This disease is very rare and can lead to multiple health problems, including childhood cancer.

Sadly Henry developed cancer later on, but the tests detected it early on and he was then successfully treated. He is now 4 years old and is currently in remission.

Lauren says: “Without the exome sequencing, Henry’s diagnoses of rhabdomyosarcoma and liver cancer and treatment for these would likely have been delayed. Knowing that Henry has Costello syndrome provided the missing piece of the puzzle and means that he receives the medical management that he needs to make sure his needs are met and to help him achieve his full potential.”

Professor Dame Sue Hill, chief scientific officer for England and senior responsible officer for genomics in the NHS said: “This 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.”

Article link: https://www.england.nhs.uk/2020/01/dna-testing-on-the-nhs/

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