Computerized patient phenotyping to connect canadian clinical genetics clinics

大约每12个加拿大人中就有一个受到罕见疾病的影响;这些疾病中的许多都很严重，大多数都是 目前无法治愈。随着300多万加拿大人的生活受到影响，罕见的遗传疾病对加拿大人的影响越来越大。 医疗保健系统和加拿大社会作为一个整体是重要的。目前，系统收集的数据库 不存在使用标准术语的关于患有罕见疾病的人的表型信息。我们已经开发 PhenoTips是一种罕见疾病的表型分析工具，使用国际公认的标准词汇表， 表型本体（HPO）。该软件已经公开，并被用作寻找罕见疾病基因的一部分。 （FORGE）项目，并已在我们的三家合作医院的巡回会议上提出：SickKids（多伦多），CHEO （渥太华）和西奈山（多伦多）。在所有这些演讲中，临床医生一致支持全面推出 我们的软件用于临床。作为目前建议的一部分，我们计划：（1）开发一个稳定版本的 将在我们的三家合作医院部署用于临床的表型分析工具;（2）建立新的算法和用户 表型分析工具内的接口，以简化临床诊断;以及（3）允许交换完整的患者记录 在医院之间，将同意用于研究的患者的匿名数据转移到集中数据 仓库。我们的项目将简化每个合作伙伴站点的临床工作流程，将来可以部署在 加拿大各地的其他医院：我们所有的软件都将免费提供（开源），以鼓励广泛的 领养

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.