Children living with rare genetic diseases often spend years searching for answers. Without access to advanced testing, families may experience repeated misdiagnoses, ineffective treatments, and ongoing emotional strain. To help address these global barriers, The Hospital for Sick Children (SickKids) continues to advance initiatives that extend the benefits of genomic medicine to more children 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 providing clinical genome sequencing and follow-up services to children with limited access. With 25 clinical partners across 12 countries, iHope has already supported thousands of individuals with suspected genetic conditions.

To strengthen the program’s expansion efforts, the Industry Partnerships & Commercialization (IP&C) team finalized a non-exclusive academic license granting Genetic Alliance the right to use C-GUIDE™ (Clinician-reported Genetic testing Utility InDEx) to assess the clinical utility of iHope’s genetic testing program at no charge. By evaluating effects on 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 broader adoption of genomic technologies.

“We are excited to support Genetic Alliance’s mission to improve evidence supporting accessible 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,” says 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.”