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NHS offers novel DNA testing for rare paediatric diseases

NHS England is providing a novel method of DNA testing which can rapidly diagnose rare diseases for critically ill babies and children.

The new technique called ‘whole exome sequencing’ improves the chances of diagnosis by twofold and provides results in days rather than weeks. Exome sequencing can effectively detect rare neurological, metabolic or other conditions through the identification of genetic mutations and can also predict the likelihood of response to particular therapies, thereby sparing unnecessary drug costs and potential side effects.

As of now, 80 babies and children have undergone DNA testing using this new technique, and nearly half have received a diagnosis for their rare diseases. Up to 700 babies are expected to benefit from the new test annually.

Simon Stevens, Chief Executive of NHS England, said: "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."


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