How SickKids innovation is helping to expand access to genomic testing through the iHope program and C-GUIDE measurement tool

Children living with rare genetic diseases often spend years searching for answers. Without access to advanced testing, families may face repeated misdiagnoses, ineffective treatments, and ongoing emotional strain. Recognizing this, The Hospital for Sick Children (SickKids) is working to ensure that the benefits of genomic medicine can reach more families worldwide.

In 2024, genomic diagnostic laboratories at SickKids and the Children’s Hospital of Eastern Ontario (CHEO) joined the iHope program of Genetic Alliance, a global non-profit initiative to provide genomic testing and follow-up services for children with limited access. Through a growing network of 25 clinical partners across 12 countries, the program has already provided genome sequencing to thousands of individuals.

To support this effort, the SickKids Industry Partnerships & Commercialization (IP&C) team finalized a non-exclusive license allowing Genetic Alliance to use the C-GUIDE™ (Clinician-reported Genetic testing Utility InDEx) at no charge.

The C-GUIDE™ is a validated outcome measure that reflects the clinical utility of genetic testing from the provider’s perspective. By assessing how iHope’s testing influences diagnosis, medical management, risk awareness, and overall patient and family well-being, the program aims to build evidence that can guide future decision-making and encourage broader adoption of genomic technologies.

"We are excited to support Genetic Alliance’s mission to improve access to genomic testing,” says Dr. Robin Hayeems, Senior Scientist in the Child Health Evaluative Sciences program at SickKids and Principal Investigator for C-GUIDE™. “C-GUIDE™ will help measure the real-world impact of clinical genome sequencing in diverse communities."

“The impact of genomic testing has historically been very difficult to quantify,” said Erin Venti, Director of Clinical Programs at Genetic Alliance. “The C-GUIDE™ is an invaluable tool in our efforts to understand the effects of genomic testing on patients, no matter their income or geography.”

By sharing the C-GUIDE™, SickKids is putting the principles of Precision Child Health (PCH) into action. This ongoing partnership continues to help expand access to genomic medicine for children everywhere and supports our enduring vision of Healthier Children. A Better World.