Computerized patient phenotyping to connect canadian clinical genetics clinics

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Approximately one in 12 Canadians is affected by a rare disorder; many of these conditions are severe, and most are currently untreatable. With the lives of over three million Canadians affected, the impact of rare genetic disorders on the healthcare system and Canadian society as a whole is significant. Currently, databases of systematically collected phenotypic information on humans with rare disorders using a standard terminology do not exist. We have developed PhenoTips, a phenotyping tool for rare diseases utilizing an internationally recognized standard vocabulary, the Human Phenotype Ontology (HPO). The software is already public and is used as part of the Finding of Rare Disease Genes (FORGE) project, and has been presented at Rounds at each of our three partner hospitals: SickKids (Toronto), CHEO (Ottawa), and Mt Sinai (Toronto). At all of these presentations, clinicians were uniformly supportive of the general launch of our software for clinical use. As part of the current proposal, we are planning to: (1) Develop a stable version of the phenotyping tool that will be deployed for clinical use at our three partner hospitals; (2) Build novel algorithms and user interfaces within the phenotyping tool to simplify clinical diagnostics; and (3) allow for the interchange of full patient records between the hospitals and transfer of anonymized data of patients consented for research use to a centralized data repository. Our project will simplify clinical workflows at each of the partner sites, and in the future can be deployed at additional hospitals across Canada: all of our software will be made freely available (open source) to encourage wide adoption.