NHS DNA sequencing to speed up diagnosis of critically ill children

A new form of DNA testing that has the potential to rapidly diagnose rare diseases in critically ill babies and children has been made available on the NHS.

Rapid exome sequencing more than doubles the chance of a successful diagnosis and can dramatically reduce the wait for conclusive results. Eighty babies and children in England have had the test since it was introduced in October 2019, more than half of whom received a diagnosis as a result. It is estimated that it will be used for around 700 young patients annually.

'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' said NHS England chief executive Simon Stevens. 

'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,' said health minister Matt Hancock.

Although individually rare, there are between 6000 and 8000 known rare diseases, three-quarters of which affect children. Parents of children with rare diseases have described a 'diagnostic odyssey' of numerous tests and referrals to multiple different specialists often taking several years before receiving a diagnosis. 

Whole-genome and whole-exome sequencing offer the possibility to screen for a large number of rare disease-causing variants at once, and as about 80 percent of rare diseases have a genetic component, many rare neurological, metabolic and other conditions can be identified this way. 

The introduction of the test makes England one of the first countries in the world to routinely offer whole-genome sequencing. The NHS Long Term Plan includes the rollout of the Genomic Medicine Service building on the work of the 100,000 Genomes Project. Beginning with rare diseases and cancer, the plan outlines ambitions to incorporate genomics and personalised/precision medicine across the NHS, including sequencing half-a-million genomes by 2024.