Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide

ABSTRACT

Introduction: There are currently several strategies developed to facilitate access and data sharing in the rare disease field. These strategies have paid special attention to the importance of rare disease patient registries and biobanks, as they are essential tools for surveillance and the provision of biosamples and phenotypic and genetic data for research worldwide. However, they are usually fragmented by disease, data model and country. Moreover, these resources have restricted access in order to protect privacy of patient data.

Areas covered: This article is an overview of existing initiatives that facilitate access to rare disease patient registries and biobanks, future challenges of accessing data/biosamples and the major barriers to achieve interoperability and worldwide sharing.

Expert opinion: RD patient registries and biobanks play an important role in the discovery of either new rare diseases or new phenotype-genotype correlations. However, there is still little access to data and important limitations regarding interoperability between these resources. The improvement of access and data sharing among patient registries and biobanks worldwide, together with the establishment of harmonized regulatory criteria, might enhance knowledge on rare diseases and the discovery of new diagnostic and therapeutic procedures.

KEYWORDS:

• Interoperability
• data sharing
• patient registries
• biobanks
• standardization
• international collaboration

Article highlights

• Currently, data sharing is one of the strongest trends in the rare disease (RD) field.

• RD patient registries and biobanks are highlighted as essential tools for surveillance, as well as for providing the basis for research and policy decisions. However, there is still little access to data and important limitations regarding interoperability between these resources.

• A great number of international initiatives are trying to address the limitations associated to the access and data sharing in RD patient registries and biobanks. Representative examples of this type of initiative are the RD-Connect project and the Matchmaker Exchange (MME) strategy.

• Despite all these efforts, there are still many open questions and future challenges associated with the large amounts of heterogeneous data generated by RD patient registries and biobanks.

This box summarizes key points contained in the article.

Declaration of interests

This work has been funded by the European Union Seventh Framework Program (FP7/0017-2013) under grant number 305444 ‘RD-Connect: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research’. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.