Canada Launches National AI Initiative to Solve Bottleneck in Genomic Medicine

Toronto, March 30 — A coalition of five leading Canadian health institutions and genomic medicine software company, PhenoTips, has launched a $5.4-million initiative to bring AI into the genomic testing process. The Clinical Intelligence for Phenotyping and Genomics Research (CIPHER) network, led by PhenoTips and IWK Health, will develop and validate SmartRequisition, an AI-assisted platform that automates a critical step in genomic test requisition. The project is funded through Genome Canada's Genomic Applications Partnership Program (GAPP), with support from Genome Atlantic and Ontario Genomics.

Genomic medicine is transforming how diseases are diagnosed and treated. But as demand for genetic testing grows, health systems struggle with testing workflows that can’t keep up. Clinical teams are stretched, labs are overburdened, and patients are waiting months or years for answers.

At the core of the problem is the need for structured descriptions of the patient's symptoms for every genomic test, encoded in a standardized vocabulary that computational tools rely on to interpret sequencing results. Genetics teams do this well, but it's time-consuming and requires deep specialist knowledge.

As genomic testing goes mainstream, non-genetics specialists increasingly need access to genetic testing, and the current process can't scale to meet that demand. SmartRequisition bridges that gap with an AI-assisted platform that streamlines the path from clinical phenotyping to standardized digital test requisitions in the lab. Adopted nationally, that could accelerate diagnoses for over 10,000 Canadians a year.

PhenoTips CEO and Co-Founder Dr. Orion Buske said, "PhenoTips exists to help health systems deliver genetic testing to everyone who needs it, sustainably and at scale. With SmartRequisition, we’re addressing one of the core bottlenecks by making it easier for clinicians to order the right test, and for labs to provide accurate results. We're proud to lead this alongside IWK Health and our CIPHER partners, with the support of Genome Canada, Genome Atlantic, and Ontario Genomics."

“Improving access to genomic testing starts with enabling every physician to order the right test with confidence,” said Lee Anne Boutilier, Director of Precision Medicine at IWK Health. “Through this collaboration with PhenoTips and partners nationwide, we’re using AI to simplify that process and bring the benefits of precision medicine to more patients, faster. This is how we turn innovation into real‑world impact for families who need answers.”

CIPHER is co-led by PhenoTips and IWK Health, the clinical genetics provider for 2.4 million residents across the Maritimes with over a decade of sequencing experience and a prior GAPP-funded partnership that laid the groundwork for this project.

The network's partners each bring something specific: Alberta Health Services contributes large-scale clinical genetics and 3D facial phenotyping; CHU Sainte-Justine tackles mixed paper-and-electronic workflows; SickKids and CHEO, through Genome-wide Sequencing Ontario, focus on high-throughput lab integration and expanding access in underserved regions. Across four provinces and over 15,000 genomic cases a year, the network provides the scale and diversity to validate SmartRequisition across Canada's healthcare landscape.

Project Co-Lead and Clinical Genomics Specialist at IWK Health, Dr. Victor Martinez said, "Through our partnership with PhenoTips and collaborators across Canada, we are improving how patient symptoms drive genomic analysis from the start, for faster and more precise diagnoses."

SmartRequisition builds on PhenoTips, the Genomic Health Record for more than 30 institutions worldwide, including NHS Trusts in the UK and Canadian provincial health authorities. PhenoTips integrates with existing electronic health records to provide the specialized tools that genomic medicine demands: deep phenotyping, pedigree capture, risk assessment, and test ordering. With SmartRequisition and the CIPHER network behind it, PhenoTips and its partners are extending that platform into new territory for Canada: making genomic testing accessible for clinicians beyond genetics, at the scale that mainstreaming demands.

About PhenoTips. PhenoTips is the leading platform for genomic medicine. Founded in 2014 out of research at SickKids and the University of Toronto, PhenoTips provides the specialized tools that health systems need to deliver genomic medicine at scale: clinical phenotyping, family history, risk assessment, test ordering, and lab integration, all embedded within existing electronic health records. Trusted by leading institutions across Canada, the UK, and Europe, PhenoTips is building the foundation for a future where genetic testing is a routine part of high-quality, preventative care. Learn more at phenotips.com.

About IWK Health. IWK Health provides care to 2.4 million women, children, youth, and families across the Maritime provinces and beyond. As the region's sole clinical genetics provider, IWK has over 10 years of clinical sequencing experience and has led the way in mainstreaming genomic test ordering into secondary and primary care practice. IWK Health is a global leader in research and knowledge sharing and delivers the most complex levels of care in the region through a collaborative model that integrates human talent with new technologies, research, training, and clinical excellence. Learn more at iwkhealth.ca.