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.
The researchers used the new method to sequence the entire genome of 24 children who arrived in intensive care with serious undiagnosed conditions. Previously, sequencing an entire genome took weeks but the team at GOSH and its research partner the UCL Great Ormond Street Institute of Child Health (ICH) have cut the time to just four days by using sophisticated analysis software and refining the process to ensure these samples are processed, sequenced and analysed as quickly and efficiently as possible.
Of the 24 seriously ill children whose genomes were sequenced as part of the pilot study, 10 received a diagnosis. 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.
The technique, which is known as Rapid Paediatric Sequencing (RaPS) has been developed and refined with the support of the National Institute of Health Research (NIHR) GOSH Biomedical Research Centre.
Study lead author and Senior Research Associate at GOSH and ICH Dr Hywel Williams said, “This important research shows that this method is cost effective and technically possible within an NHS setting. Sequencing one genome using this approach only costs slightly greater than the cost of spending one day in intensive care. This method has the potential to transform care for some of the sickest children not just at GOSH but across the NHS, as well as delivering significant savings by reducing the length of stays in ICU."
Dr Emma Clement, Consultant in Clinical Genetics at GOSH who led the study in the intensive care unit said “Many of the children we see in the intensive care at GOSH have extremely rare, undiagnosed conditions. This method will not only help us make quicker decisions about their treatment and avoids the need for further diagnostic tests, but it can also provide patients with a genetic diagnosis which is extremely valuable for families who may have had to endure significant uncertainty about their child’s future.”
The research was published in the Journal of Medical Genetics.