BioResource and improved diagnosis in children

BioResource participants have helped doctors to better detect genetic disorders in children.

The work means that seriously ill children will be tested for genetic variations that could explain their disease. The results could be used to improve or change treatment or to advise parents on risks to other children. And, from 2020, all seriously ill children with an unexplained disorder will be eligible for the approach.

Young child holding breathing apparatus over nose and mouth

Professor Dame Sue Hill, Chief Scientific Officer of NHS England, 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."

The team looked at 350 children in intensive care and found that about one in four have a genetic disorder.

With complete analysis of the child’s DNA – whole genome sequencing – the research team can provide a diagnosis in 20% of cases. The lessons learnt from the genome sequencing changed the care for the child in two out of three cases.

Lucy Raymond, professor of medical genetics and neurodevelopment at the University of Cambridge, who led the project, said: "It is astonishing to be able to give a meaningful result from whole genome sequencing analysis in just a couple of weeks.”

Read a BBC report on this story.

You can also read the original news item and the scientific paper, published in Science, which is freely available.

First published 19 September 2019.

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