Genomics will revolutionise treatment for childhood rare diseases
27 Feb 2025, 10:20 a.m.
A global study, part-funded by Great Ormond Street Hospital Charity (GOSH Charity), has proven the power of a simple genomics blood test to improve treatment and care for childhood epilepsy.
Sarah's daughter playing in the sand.
Sarah’s story
Sarah’s daughter was just three months old when her seizures started. When scans ruled out other causes, they were told the answers could be in her genetics.
At Great Ormond Street Hospital (GOSH), she was enrolled in Gene-STEPS, a global research study that used rapid genome sequencing (rGS) to provide early detection of the cause of epilepsy in babies under one year old. rGS was performed from a standard blood test and looked for changes in the child's DNA that might explain their condition.
“We were so worried as she was our first baby and it was all so new. Taking part in this research meant that in three weeks we had the answers we wanted. Our little girl’s epilepsy is genetic and the doctors were able to confirm that the treatment she was on was the best one for her and adjust the dose to be even better” says Sarah.
Many childhood epilepsies are genetic. But with over 1,000 epilepsy genes identified, knowing at an early stage which, if any, are responsible for a child’s epilepsy can help to guide treatment and care. It can also help enable patients, families and doctors to make more informed decisions.
“Even if the genetic diagnosis doesn’t change anything for the child or the family, just recording more genetic causes and cases so that we know we are not alone and have some idea of what might be ahead for us, would be a huge benefit.”
“Having clarity around our chances of having a child with another genetic variation allowed us to receive genetic counselling and quickly make plans to grow our family with support from genomic experts.”
What did the research on childhood epilepsy find?
Gene-STEPS, the first project from the International Precision Child Health Partnership (IPCHiP), explored the use of rGS for infants with newly diagnosed epilepsy. rGS was performed using standard blood tests from around 400 babies enrolled on the study – with results returned within three weeks or less. Whilst genetic testing for epilepsy is not new – current methods can leave families waiting for answers and symptoms worsening.
Published in npj Genomic Medicine for Rare Disease Day, the teams found that embedding rGS in routine clinical practice was feasible across four different countries and health systems. It provided a genetic diagnosis for 43% of infants in under three weeks and informed clinical care, such as treatment choice, for 98% of infants with a genetic diagnosis.
Whilst piloted here in children with epilepsy, this research proves the power of genomic sequencing in revolutionising care for children with rare disease around the world. With the right resources and infrastructure – the processes tested here could be translated into the clinic and extended to other rare genetic conditions maximising benefit for children globally.
“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.”
The importance of global collaboration and funding partnerships
IPCHiP is a collaboration between UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) and GOSH, The Murdoch Children’s Research Institute (MCRI) in Australia, The Hospital for Sick Children (SickKids) in Toronto and Boston Children’s Hospital. The partnership brings together world-leading institutions inspired by a common vision to accelerate discovery and improve outcomes in rare disease.
The UK arm of the Gene-STEPS project was part-funded by GOSH Charity and the National Institute for Health and Care Research (NIHR) GOSH Biomedical Research Centre with support from Young Epilepsy.
" It's incredibly exciting to see the power of genetic sequencing in improving treatment and care for childhood rare diseases. We are proud to support this research and consider it an excellent example of the importance of global collaboration and working in partnership to accelerate the breakthroughs of tomorrow and transform the lives of seriously ill children across the world.
Research at GOSH Charity
GOSH charity are the largest charitable funder of medical research dedicated to paediatrics in the UK. Our research aims to transform the lives of children with rare or complex health needs through research-led care. Find out more about our research.