A simple genomics blood test could improve treatment and care for childhood epilepsy, but more investment is needed to make access fair and securely join up the data, a new study has found.
The International Precision Child Health Partnership (IPCHiP), operating at sites across the UK, Canada, the US and Australia, has shown that rapid genomic sequencing (rGS) can revolutionise care for children with rare diseases.
It can improve diagnoses, enhance treatment plans and allows patients, families and doctors to make more informed decisions.
Rapid genome sequencing is a technique that quickly reads and analyses a person’s genetic material by breaking it into small fragments and sequencing them all at once.
Professor Dame Lyn Chitty, of the UCL Great Ormond Street Institute of Child Health and Deputy Director of the NIHR GOSH Biomedical Research Centre, said: “This work has shown the power of collaborative research in rare conditions to test and learn from genomics.
“We now need the data infrastructure to extend this research to other conditions to enable more people access to these advances in genomics.
“For that to happen, we urgently need investment in informatics and governance to enable data sharing whilst protecting patient confidentiality.”
Many childhood epilepsies are caused by genetics.
With over 1,000 epilepsy genes identified, knowing which (if any) genetic variants are responsible for a child’s epilepsy can help to guide treatment and care.
Early detection and diagnosis are important to support children and families as early as possible.
The results from Gene-STEPS, the first project from IPCHiP explore the use of rGS for children with newly-diagnosed epilepsy.
The teams found that not only was rGS feasible from a standard blood test across the four countries’ different health systems, it also provided a genetic diagnosis for 43 per cent of children in under three weeks.
Importantly, for 98 per centof children with a genetic diagnosis there was a significant impact on their treatment, such as a choice of antiseizure medication.
Lead investigator from the UK partner, Dr Amy McTague (UCL Great Ormond Street Institute of Child Health and GOSH) said: “It was fantastic to see that we could so quickly advance precision child health in this way in our pilot project.
“We have learnt a great deal from this process about international collaboration and the need for wholesale adoption of this into clinical care.
“Money spent on child health pays dividends, not just in quality of life for our young people and their families, but in creating a happier and healthier population and communities for the future.”