Date: 30 July 2018
A new rapid technique for genetic sequencing developed by NIHR researchers has been successfully used to diagnose children in intensive care, enabling them to receive the best treatment and reducing the time they have to spend in hospital.
Researchers supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre have developed a technique called Rapid Paediatric Sequencing (RaPS). This approach cuts the time for genome sequencing from weeks to just four days.
The researchers used the new method in a pilot study to sequence the entire genome of 24 children who arrived in intensive care with serious undiagnosed conditions.
A total of 10 of the 24 seriously ill children whose genomes were sequenced received a diagnosis, the researchers report in the Journal of Medical Genetics.
For three of these children, the vital DNA sequencing data caused doctors to modify treatment to ensure the best possible outcome. For one patient, this meant managing their insulin levels after the genetic sequencing revealed they had a rare hormone condition caused by excess insulin.
This is the first time that this cutting edge technique has been applied in an NHS hospital, with similar tests previously only available in the US, Australia and the Netherlands.
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