International collaboration drives progress for Precision Child Health

Imagine a world where every child with a rare condition receives a precise diagnosis and tailored treatment, no matter where they live.  

With inequitable access to genomic testing around the world, international partnerships may be the key to accelerating accurate diagnoses and therapeutic options for patients and families, according to a new report in npj Genomic Medicine. 

The International Precision Child Health Partnership (IPCHiP) is comprised of four of the world’s leading paediatric hospitals, The Hospital for Sick Children (SickKids), Murdoch Children’s Research Institute (MCRI), Boston Children's Hospital (BCH), UCL Great Ormond Street Institute for Child Health (GOS ICH) and Great Ormond Street Hospital (GOSH). Its focus is advancing genomic discovery of paediatric diseases into clinical care.  

Today, a report led by IPCHiP is calling for continued investment in international research efforts. 

"Working collaboratively, global partnerships can provide the infrastructure, expertise and patient numbers needed to scale up and streamline rare disease trials," says Dr. Stephen Scherer, Senior Scientist, Genetics & Genome Biology and Chief of Research at SickKids. “By unlocking pathways for innovation and enabling partnerships to flourish, we can not only maximize research impact and improve diagnoses but also create a sustainable and more equitable model for rare disease research that benefits children worldwide.” 

Partnership helps drive meaningful discoveries for patients 

There are thousands of different rare diseases and when combined, collectively, they are becoming increasingly common, affecting about 300 million people globally. One in three children with a rare disease will die before the age of five.  

At the heart of IPCHiP's efforts is the Gene-STEPS project, a flagship initiative focused on infants with unexplained epilepsy. Utilizing rapid trio genome sequencing, Gene-STEPS has provided genetic diagnoses for 43 per cent of infants with new-onset epilepsy. These diagnoses have had a profound impact — guiding treatment choices for 56 per cent of affected infants and informing overall prognosis for 86 per cent. 

A key part of the Gene-STEPS project has been the responsible sharing of data and biological samples across the IPCHiP consortium. The partners are now working on new frameworks to support safe and effective data sharing across institutions — often a missing piece in current health systems. 

“With rare disease, no single institution has enough patients or data to drive meaningful discoveries,” says Dr. Katherine Howell, Associate Professor at MCRI. “International collaboration allows us to pool resources to deliver life-changing diagnoses that can inform clinical decisions sooner.” 

Looking ahead: the GEMSTone project 

Building on the success of Gene-STEPS, IPCHiP’s next project, GEMSTone, will apply these learnings to newborns and infants with hypotonia, a condition characterized by decreased muscle tone that can lead to developmental delays, feeding challenges, and other health concerns.  

IPCHiP was also recently designated a ‘Driver Project’ of the Global Alliance for Genomics and Health (GA4GH), an international community advancing health through genomic data standards.  

Beyond scientific innovation, the authors note sustained progress requires new funding that supports cross-institutional and international team science. 

“Precision Child Health is an investment with benefits that extend far beyond paediatric rare diseases,” says Dr. Scherer. “Understanding the impact of variants can yield insights into complex biological pathways and improve our understanding of common conditions to support better health outcomes for people of all ages, everywhere.” 

At SickKids, IPCHiP is a catalyst for the whole-of-system change necessary to realize the full potential of Precision Child Health. By embedding research in clinical practice, IPCHiP is generating evidence needed to advance Precision Child Health and provide a model for scaling individualized care for all patients and families.