A Cambridge-led study, also known as the Next Generation Children’s Project, used progressive whole genome sequencing technology to help doctors identify and treat genetic conditions in babies and young children.

Professor Lucy Raymond

The study, led by Professors Lucy Raymond and David Rowitch, which is the largest of its kind to date, took blood samples from 350 babies and children in intensive care units with a variety of different conditions.

It was discovered that one in four babies used in the project had an underlying genetic condition that was then able to be more effectively treated from an early diagnosis. In fact, parents and doctors of these ill children received the test results from this project within two to three weeks on the NHS. The efficiency and accuracy of whole genome sequencing therefore paves the way for this kind of testing to be incorporated into conventional practice. Critically, this breakthrough will also have wider implications for parents who have lost a child for reasons that are not fully understood. It will be able to spare them the pain of not knowing why their child died and may help to inform on decisions about trying for a family again. The next step now is for genome sequencing testing to be offered on a national scale.

Professor David Rowitch

Chief Scientific Officer of NHS England, Professor Dame Sue Hill DBE, who is responsible for the development of genomics across the NHS said: This Cambridge trial is important because not only does it show the potential benefits of whole genome sequencing to significantly improve care for seriously ill children, but it also demonstrates this technology can be delivered as part of a mainstream NHS service.”This project was supported by funds from by the National Institute of Health Research (NIHR), the Cambridge Biomedical Research Centre, the Rosetrees Trust and Isaac Newton Trust and was featured on the BBC.

Ione Goodwin