Rapid genome sequencing for paediatric patients

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Infants in intensive care are to benefit from a new rapid genetic sequencing service, it was announced today.

A laboratory in Exeter, Devon, will undertake genome sequencing for more than a thousand children and babies, NHS England said. The testing will be available for patients who are seriously ill or who are born with a rare disease.

NHS England is to launch the service today at its first Genomics Health Summit in London, where it will be launching a Genomics Strategy.

Plans include an ethics advisory board and a Genomic Training Academy.

NHS England cites the example of a new-born baby treated in Bristol for high levels of ammonia in his blood. Genome sequencing found treatable changes in the CSP1 gene. The baby’s illness is now expected to be cured with a liver transplant.

Dr Emma Baple, who runs the National Rapid Whole Genome Sequencing Service in Exeter, said: “The rapid whole genome testing service will transform how rare genetic conditions are diagnosed.