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.

Fig. 1

Registry & Biobank Finder and the RD-Connect infrastructure. Registry & Biobank Finder is integrated with other RD-Connect elements, in particular the RD-Connect Sample Catalogue and the Genomics Platform

Fig. 2

Search strategies in the Registry & Biobank Finder. To help researchers find registries and biobanks, the Registry & Biobank Finder offers two types of search engines: “Catalogue” and “Search”. a In the “Catalogue” tab, users can search the directory against different keywords, such as the disease name and its synonyms, OMIM- and Orphacodes (upper left). The results can be filtered by the database type and display only registries or only biobanks (upper right). The search results display the list of found databases with the information on their type, the total number of cases (patients or biosamples) for all diseases collected in the database, date of last data update, and the country (lower right). b The “Search” tab is particularly useful for searching the numbers of cases with the disease of interest in each found database (marked in red)

Fig. 3

An ID-Card of an individual database. The detailed description of each registry or biobank in the directory is presented as an ID-Card with the address and three tabs: “Overview”, “Diseases” and “Documents”. “Overview” provides general information about the database, such as the contact data, source of funding, target population and membership in networks. “Diseases” opens a Disease Matrix, which lists all the diseases for which the registry/biobank has collected data, with the numbers of cases (patients or donors) and the mutations covered. The “Documents” tab provides access to various documents, such as database’s data transfer agreement, templates for informed consent and publications

Fig. 4

Inclusion of biobanks and registries in the Registry & Biobank Finder. The process of inclusion and evaluation of biobanks and registries in the Registry & Biobank Finder (mapped and self-proposed)