Rare Daily Staff

The National Health Service in England said it is providing whole exome sequencing to diagnose critically ill babies and children, a decision it says will double the chance of a diagnosis and can do so in days.

Some 80 babies and children have received this new test, with almost half being given a diagnosis for their rare disease. Up to 700 babies and children are expected to benefit from the testing each year.

The effort is part of the NHS’ Long Term Plan, which includes a commitment to harness the power of DNA mapping. Patients in England are amongst the first in the world to be routinely offered the tests.

“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,” Simon Stevens, chief executive of NHS England said.

Exome sequencing looks for and can identify a range of potentially life-threatening conditions through a single test, rather than standard tests that usually are limited to looking for specific conditions. The approach provides twice the likelihood of a diagnosis and is faster than standard practice where multiple tests may be performed one at a time, giving parents of seriously ill children results in days rather than waiting months.

The testing can detect rare neurological, metabolic, or other conditions by identifying genetic mutations, and helps to show which patients are unlikely to respond to particular treatments, which saves unnecessary medication and potential side effects.

“The pain for families seeking a diagnosis for their sick children is unimaginable,” said Matt Hancock, the U.K.’s secretary of health and social care. “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.”

Photo: Simon Stevens, chief executive of NHS England

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