The diagnosis and treatment of some of the most critically ill babies can be improved by sequencing their whole genome, a Cambridge-based study reveals.
The study uses advanced genome sequencing to help doctors identify genetic conditions in neonatal and paediatric intensive care units.
NHS expects this Cambridge trial to help shape and inform the implementation of whole genome sequencing for seriously ill children, as set out in the NHS Long Term Plan. This will enable doctors to intervene earlier, manage conditions more effectively, potentially improve outcomes and even save lives.
The study, which is the largest of its kind in the world, found an underlying genetic condition among one in four babies and in a majority of the cases, the diagnosis changed their treatment plan.
“The promise of this for the future includes more rapid diagnosis and early detection of genetic disease that can pave the way to providing medicines that are best suited to the child,” said Professor David Rowitch, honorary neonatal consultant at Cambridge University Hospitals NHS Foundation Trust.
Entitled ‘Next Generation Children project’, the research project investigates the clinical utility of rapid whole-genome sequencing for children in intensive care that delivers results within a two to three-week window in the NHS.
Genome sequencing would also help parents who lose a child to make more informed decisions about trying for a family again.
“Genomics has the potential to transform the delivery of care for patients which is why the NHS has prioritised it in its Long Term Plan,” said Professor Dame Sue Hill, Chief Scientific officer of NHS England.
“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 trial will help to shape and inform the NHS implementation of whole genome sequencing for seriously ill children, as set out in the NHS Long Term Plan.”
The study has been funded by the National Institute of Health Research (NIHR), the Cambridge Biomedical Research Centre, the Rosetrees Trust and Isaac Newton Trust.