On November 12, four new resources received the “IRDiRC Recommended” label, being GA4GH’s Framework for Responsible Sharing of Genomic and Health-Related Data , DECIPHER , Human Phenotype Ontology (HPO), and the International Consortium of Human Phenotype Terminologies (ICHPT).
The Framework for Responsible Sharing of Genomic and Health-Related Data provides a principled and practical framework for the responsible sharing of genomic and health-related data. It contains foundational principles and core elements for responsible data sharing. The framework was praised for its general and robust governance framework and its clear methodology and involving a wide range of stakeholders.
The Wellcome Trust Sanger Institute’s DECIPHER is a database and web-based platform enabling the deposition, analysis and sharing of phenotype-linked plausibly pathogenic variation in patients with rare genetic disorders. By making consented, linked- anonymized patient data available, DECIPHER facilitates collaboration and fosters communication between clinicians and scientists around the world. It was commended for its solid background, being embedded in a strong research environment. As such, DECIPHER was reviewed as an excellent resource to exchange clinical and genomics information on patients that suffer disorders for which the diagnosis is unknown.
HPO aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. The HPO is currently being developed using cross references to the medical literature, Orphanet, DECIPHER, and OMIM. HPO was positively evaluated as resource that provides the best existing system to standardize phenotypic information in rare diseases registries. An additional focus was put on the number of tools that are currently already developed to improve the use of this ontology provides the added value for the analysis of undiagnosed cases affected by unknown rare diseases.
ICHPT provides the community with a set of terms to describe phenotypic features to be used by any terminologies to achieve interoperability between databases, in particular to allow the linking of phenotype and genotype databases for rare diseases. ICHPT was positively assessed for its facilitation of standardization in the description of rare disease features and for gathering data efforts.
IRDiRC Recommended is a quality indicator highlighting tools/ standards/ platforms or guidelines contributing to IRDiRC’s objectives. It focuses on key resources for research communities to accelerate clinical translation. More information about this initiative can be found here.