A recent study has shown whole-genome sequencing to be quick, cost-effective and to give greater causal certainty as to paediatric genetic conditions, and the service will be rolled out across the UK in 2020 in line with the NHS Long Term Plan.
The NHS has announced that it will make whole genome sequencing available to all seriously-ill children and their parents from 2020, as part of their world-first NHS Genomic Medicine Service which fulfils the ambitions stated in the NHS Long Term Plan.
This follows a successful project run by Next Generation Children Project in collaboration with the NIHR Bioresource Rare Diseases and the University of Cambridge, which applied whole genome sequencing to 350 babies and children and found this to be a far better predictor of genetic conditions compared to current analyses of appearance and clinical symptoms.
Professor Dame Sue Hill, Chief Scientific Officer of NHS England, commented that:
“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.
“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 advantages of whole genome sequencing compared to current diagnostic methods are:
- Rapid diagnosis – around 2-3 weeks, compared to much longer times (potentially several years) incurred when undergoing a succession of different diagnostic tests
- Cost-effective – around £1000 cost, compared to the cost of utilising several different diagnostic tests
- Certainty – sequencing the genomes of both parents gives them peace of mind as to the cause of the genetic condition, which the study found to be inherited in only 1/3 of cases
Lucy Raymond, Professor of Medical Genetics and Neurodevelopment at the University of Cambridge, who led the project, commented that:
“It is astonishing to be able to give a meaningful result from whole genome sequencing analysis in just a couple of weeks, compared to earlier in my career, when we spent years simply trying to locate a single gene.”
For further information, visit the Next Generation Children Project website here.