The Centre for Computational Medicine, Hospital for Sick Children, Toronto

https://ccm.sickkids.ca/

PhenoTips (www.phenotips.org) is an open source software tool for collecting and analyzing phenotypic information for patients with genetic disorders. The user interface closely mirrors clinician workflows so as to facilitate the recording of observations made during the patient encounter. This easy-to-use front-end, compatible with any device that runs a Web browser, is coupled with a standardized database back-end where phenotypic information is represented using the Human Phenotype Ontology (HPO). Collected data include demographics, medical history, family history, physical and laboratory measurements, physical findings, and free-form notes. In addition to data collection, PhenoTips automatically analyzes a wide range of measurements and plots live the corresponding growth curves. It also supports diagnosis based on the entered data, and can suggest additional clinical investigations that can improve the diagnosis. PhenoTips is currently being adopted as a data capture platform within the Neuromics project, and we hope to work with other groups within RD-Connect to make it even more useful for clinicians and scientists.

PhenomeCentral (www.phenomecentral.org) is a repository for secure data sharing targeted to the rare disorder community, powered by PhenoTips.  Because the discovery of disease-causing variants typically requires confirmation of the mutation or gene in multiple unrelated individuals, a large number of genetic disorders remain unsolved due to difficulty of identifying second families.  As you realize, it is critical to establish effective and secure data-sharing techniques that allow clinicians and scientists to identify additional families via phenotype and genotype searches. Each patient record within PhenomeCentral consists of a thorough phenotypic description capturing observed abnormalities as well as relevant manifestations that were not seen in the patient, expressed using Human Phenotype Ontology terms. Furthermore, each record can be labeled by the creator as: private ‒ hidden from everyone except the contributor; public ‒ viewable and searchable by all registered users; or matchable ‒ the record cannot be directly viewed or searched, but is reachable via an automated phenotype matching system which informs contributors of the existence of phenotypic profiles similar to their cases. The phenotypic features shared among these records are presented without revealing additional patient information or the contributors. The system thus enables direct communication among contributors for any subsequent data sharing. PhenomeCentral hosts phenotype data for hundreds of patients from American, Canadian, and European consortia, and our goal in working with RD-Connect is to make it broadly used.

As part of our collaboration with RD-Connect we would be glad to participate in RD-Connect meetings and training sessions, and assist the member projects in setting up electronic patient data forms.  Introducing scientists and clinicians working within the RD-Connect framework to the abilities of PhenoTips and PhenomeCentral will be jointly useful both for RD-Connect, in helping to standardize and streamline data capture across the various projects, and for us, in achieving a larger user base.