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New national DNA test will diagnose rare diseases in babies

A new DNA test is now available on the NHS to rapidly diagnose critically ill babies and children with rare diseases.

The test uses a whole exome sequencing method, which identifies genetic mutations in a patients’ DNA and can look for a range of rare diseases, and has already been given to 80 children, NHS England revealed.

The new approach both increases the chance of diagnosis and reduces the time taken to assess problems in children – resulting in a diagnosis in days rather than weeks, said NHS England.

The test was developed by researchers at the University of Exeter and was launched in October. Since then, of the 80 babies and children in neonatal and paediatric intensive care units who were tested, almost half were given a diagnosis for a rare disease.

This follows a previous announcement by NHS England about a soon-to-be launched pilot that will conduct whole genome sequencing on newborns on the NHS.

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.’

Health and social care secretary Matt Hancock said: ‘This kind of genomic technology is game changing for the NHS and will complement our existing commitment to offer whole genome sequencing to children with cancer and rare genetic disorders.

‘It’s one step forward, and over the coming years we will expand the use of genomic testing right across the NHS.’