Overview
Genomic medicine is entering mainstream care, but interpretation remains a critical bottleneck: accurate variant analysis depends on structured phenotypes, yet requisitions are often incomplete, unstructured, and still on paper.
Manual entry of Human Phenotype Ontology (HPO) codes is slow, inconsistent, and labour-intensive, delaying care and limiting scalability as sequencing expands across specialties. This project will advance SmartRequisition, a software portal that automates HPO capture at ordering and generates HL7 FHIR/LIS-ready requisitions.
By Month 24, it will be implemented at IWK Health and partner Canadian sites, with a 67% reduction in phenotype coding time, 80% requisition completeness, and a solution with 30% attach-rate goal across current deployments and an ARR trajectory toward ~CA$6M.
To address the existing need, the Clinical Intelligence for Phenotyping and Genomics Research (CIPHER) network has been established. Co-led by PhenoTips and IWK Health, partners include Alberta Health Services, CHU Sainte-Justine, CHEO, and SickKids. The network will co-design and validate SmartRequisition, embedding it into intake workflows.
Using large language models with retrieval-augmented generation, the tool extracts HPO terms from free text and structured inputs, supports multimodal data, and enables clinician-in-the-loop review. Requisitions export via HL7 FHIR, LIS, or PDF for integration into lab and EHR systems.
The market opportunity is significant. The global genetic testing market was US$11.9B in 2024 and is projected to reach US$91.3B by 2034 (22.6% CAGR). Growth depends on digital infrastructure that enables high-quality requisition and interpretation. PhenoTips already serves 26 hospitals worldwide with its genomic workflow platform, anchoring an immediate ~CA$200M addressable market in hospitals with in-house genetics labs.
SmartRequisition strengthens PhenoTips’ AI-driven suite, positioning the company to capture this segment and expand into the ~CA$2B serviceable market of large health systems, with future application in oncology, neurology, cardiology, and population health.
IWK was the first centre in Atlantic Canada to deliver local clinical exome services, with phenotypes integrated into sequencing through a multi-year development and privacy/legal program. This foundation de-risks the project, allowing immediate focus on validation and roll-out within the two-year GAPP timeframe.
For Canada, SmartRequisition strengthens national genomic capacity, reduces reliance on foreign software, and improves patient care. For the CIPHER network, it supports more timely diagnoses while demonstrating a solution that can scale across provinces. By transforming a universal bottleneck into a validated product, SmartRequisition positions Canada as a leader in digital infrastructure for precision medicine.