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

Lopez E, Thompson R, Gainotti S, Wang CM, Rubinstein Y, Taruscio D, Monaco L, Lochmuller H, Alonso V, Posada de la Paz M


Expert Opinion on Orphan Drugs, May 2016
DOI: 10.1080/21678707.2016.1188002

Abstract

SUMMARY

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 data sharing. It has been recently published in “Expert Opinion on Orphan Drugs”, a relatively new international journal (it was launched in 2013) that covers all aspects related to treatments for rare diseases. As the topics covered in this review are of enormous importance, the dissemination of this information throughout RD professionals who perhaps may not know much about it, has been considered highly relevant.

Rare diseases patient registries and biobanks are highlighted as essential tools for surveillance, as well as for providing the basis for research and policy decisions. However, this article also shows that there is still little access to data and important limitations regarding interoperability between these resources. The project RD-Connect is outlined as one of the most important international strategies trying to address these limitations. In fact, the objective of this project is to enable cross-linking and efficient distribution of quality-controlled data to the rare disease research community in a secure ethical and legal framework. The participation of RD-Connect in the Matchmaker Exchange is also highlighted, since it ensures the interaction with other international teams and projects that also aim to facilitate the matching of cases with similar phenotypic and genotypic profiles.

 

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.

Lay summary

 

Further info

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