As part of the Next Generation Children project at Addenbrooke’s Hospital and Cambridge University, all seriously ill children in England with unexplained disorders will be able to have their genomes analysed from 2020. The project should mean quicker diagnoses for families in the future.

So far during the project, 250 babies and children in Addenbrooke’s have been sequenced. It was found that one in four children in intensive care had a genetic disorder. A diagnosis for the children was found within three weeks, leading in some cases to treatment changes or fewer invasive tests.

In two thirds of these cases, the genetic error had occurred spontaneously at conception, without inheritance. During the project, scientists determined that a child’s appearance and clinical symptoms were rarely a good predictor of genetic conditions.

The project is intended to be a template for the NHS Genomic Medicine Service, rolled out across England from 2020.