Venue & Time: Monday 7th March, 3-4pm, Malet Place Engineering Building, Room 1.03, UCL
Title: PhenoTips & PhenomeCentral: An Integrated Framework for Phenotyping and Data Sharing for Rare Disorders
Speaker: Michael Brudno, Gene42
Despite the continuing progress in identifying genes responsible for Mendelian disorders, a significant number of patients being seen at a genetics clinic remain without a diagnosis. The reasons for this are two-fold: first, a significant fraction of undiagnosed patients represent “ultra-rare” disorders, with only a handful world-wide, making the diagnosis difficult. Secondly, a growing fraction of undiagnosed patients atypical presentations that the clinician may not consider the relevant gene test. Accurate diagnosis of these patients requires accurate and standardized patient phenotype recording and sharing. To address these we have developed PhenoTips and PhenomeCentral.
PhenoTips is open source software for collecting and analyzing phenotypic information. The user interface closely mirrors clinician workflows so as to facilitate the recording of observations made during the patient encounter. Collected data include demographics, medical history, family history, physical and laboratory measurements, and physical findings recorded using the man Phenotype Ontology, as well as additional notes. Data recorded with PhenoTips, as well as patient exomes, can be de-identified and securely shared using PhenomeCentral: a data sharing portal that allows clinicians to store patient phenotype descriptions and helps them to identify second families and closely related solved disorders while respecting patient privacy. PhenomeCentral utilizes computational similarity algorithms to identify most similar patients, offering the users simple tools for contacting their submitters.