March 18, 2015
When working with cases of rare genetic disorders, finding similar individuals can be extremely difficult. Inspired by online dating services, an article published in Human Mutation describes GeneYenta, a proof of concept website that allows clinicians to coordinate detailed comparisons for phenotypically similar cases, thus facilitating matchmaking processes. Data is entered based on the Human Phenotype Ontology (HPO) with user specified weights for feature importance. Each case is assigned a phenotypic match score to other entered cases for comparison. The user can view related matches with which they can choose to collaborate through interactions external to the system. This platform was built with the aim to“facilitate the discovery of rare disease genes and the diagnosis of patients with similar genetic disease”.
The authors also refer to another portal – Matchmaker Exchange – that tackles the problem of data exchange of rare disease patient genetic data and includes many rare disease consortia around the world. The authors believe that exome data in this portal is often not available for ethical and confidentiality reasons. Hence cases may be stalled in genetics clinics. The authors believe that “GeneYenta provides a lightweight solution to this problem by allowing researchers, who have limited time to share non-personally identifying phenotype patient information with other researchers worldwide”.