The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

Abstract

In rare disease (RD) research there is a huge need to systematically collect biomaterials, phenotypic and genomic data in a standardized way and to make them Findable, Accessible, Interoperable and Reusable (FAIR). RD-Connect is a 6 years global infrastructure project initiated in November 2012 that links genomic data with patient registries, biobanks, and clinical bioinformatics tools to create a central research resource for RDs. Here we present RD-Connect Registry & Biobank Finder, a tool that helps RD researchers to find RD biobanks and registries and provide information on the availability and accessibility of content in each database. The Finder concentrates information that is currently sparse on different repositories (inventories, websites, scientific journals, technical reports, etc.), including aggregated data and metadata from participating databases. Aggregated data provided by the Finder, if appropriately checked, can be used by researchers who are trying to estimate the prevalence of a RD, to organize a clinical trial on a RD, or to estimate the volume of patients seen by different clinical centers. The Finder is also a portal to other RD-Connect tools, providing a link to the RD-Connect Sample Catalogue, a large inventory of RD biological samples available in participating biobanks for RD research. There are several kinds of users and potential uses for the RD-Connect Registry & Biobank Finder, including researchers collaborating with academia and the industry, dealing with the questions of basic, translational and/or clinical research. As of November 2017 the Finder is populated with aggregated data for 222 registries and 21 biobanks.

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

“…In 2012, Eurordis, Nord and Cord (the European, American and Canadian Federations of rare disease organizations, respectively) issued a joint declaration underlying the importance of disease registries and inviting collaborative approaches among all stakeholders [ 17 ]. Efforts to promote registries’ harmonisation and implementation of standard procedures were taken on by further EC projects, such as EpiRare [ 47 ] and RD-Connect [ 48 ]. Furthermore, the Federations advocated the importance for a direct involvement of patients both in reporting data and in the registries’ governance, and, more in general, in the creation of partnerships with health professionals and industry.…”

“…The Italian NMD Registry mainly satisfies the principles for data management and stewardship envisaged by Eurordis-Nord-Cord [ 17 ], European Union Committee of Experts on Rare Diseases (EUCERD) Core Recommendations [ 18 ] and RD-Connect, an EU global infrastructure project to support collection of -omics data, personalised medicine and biomarker research on rare diseases [ 54 – 56 ]. In particular, RD-Connect has adopted the guiding principles for data management and stewardship that recommend data be collected in a standardized way and made Findable, Accessible, Interoperable and Reusable (FAIR) [ 48 , 57 ]. The Italian NMD Registry is findable through the RD-Connect Registry & Biobank Finder [ 48 ].…”

“…In particular, RD-Connect has adopted the guiding principles for data management and stewardship that recommend data be collected in a standardized way and made Findable, Accessible, Interoperable and Reusable (FAIR) [ 48 , 57 ]. The Italian NMD Registry is findable through the RD-Connect Registry & Biobank Finder [ 48 ]. Moreover, the most established registries (DMD, SMA, and CMT registries) are already part of global efforts (TREAT-NMD Global registry in the case of the first two and CMT-ID for the third) [ 4 , 24 , 25 , 32 ] and are interoperable with the respective international initiatives.…”

“…Finally, with this document the relevant scientific societies endorse the NMD Registry platform, thus promoting its use within the clinical network and contributing to the dissemination of its governance principles and SOPs. The NMD Registry platform is expected to become the referring structure for future registry initiatives, engaging the young generation of clinicians in data collection through an educational process that has its foundation in the FAIR concepts and ontologies-based classification [ 48 , 57 – 59 ]. In fact, the IT platform is working as an intranet structure, allowing the professionals of all centres to share data and information in a secure way, according to the legal requirements and data management good practices.…”

MIRACUM: Medical Informatics in Research and Care in University Medicine

“…Examples of such networks are the Observational Health Data Sciences and Informatics (OHDSI) collaboration [ 3 ], the PCORnet clinical data research networks (CDRNs) and patient-powered research networks (PPRNs) [ 4 , 5 ] and the eMerge network [ 6 ]. European projects have for example focused on sharing aggregated data and metadata among rare disease researchers [ 7 ] and biobanks [ 8 ], creating a general distributed infrastructure for life-science information [ 9 ] or enabling data-intensive life science research in the Netherlands [ 10 ]. Most of such projects build their concepts around the FAIR guiding principles for scientific data management and stewardship [ 11 ].…”