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Improving the informed consent process in international collaborative rare disease research: Effective consent for effective research

Lookup NU author(s): Emeritus Professor Simon WoodsORCiD, Dr Pauline McCormack, Professor Hanns Lochmuller, Professor Volker StraubORCiD



This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0).


The increased international sharing of data in research consortia and the introduction of new technologies for sequencing challengethe informed consent (IC) process, adding complexities that require coordination between research centres worldwide. Rare diseaseconsortia present special challenges since available data and samples may be very limited. Thus, it is especially relevant to ensurethe best use of available resources but at the same time protect patients’ right to integrity. To achieve this aim, there is an ethicalduty to plan in advance the best possible consent procedure in order to address possible ethical and legal hurdles that could hamperresearch in the future. Therefore, it is especially important to identify key core elements (CEs) to be addressed in the IC documentsfor international collaborative research in two different situations: (1) new research collections (biobanks and registries) for whichinformation documents can be created according to current guidelines and (2) established collections obtained without IC or witha previous consent that does not cover all CEs. We propose here a strategy to deal with consent in these situations. The principleshave been applied and are in current practice within the RD-Connect consortia – a global research infrastructure funded by theEuropean Commission Seventh Framework program but forward looking in terms of issues addressed. However, the principlesestablished, the lessons learned and the implications for future research are of direct relevance to all internationally collaborativerare-disease projects.

Publication metadata

Author(s): Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2016

Pages: 1–7

Online publication date: 10/02/2016

Acceptance date: 08/12/2015

Date deposited: 01/03/2016

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/ejhg.2016.2


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Funder referenceFunder name
Biobanking and Biomolecular Resources Research Infrastructure (BBMRI)LPC
BioBanking and Molecular Resource Infrastructure of Sweden project
115142-1IMI project BTCure
305608European Union Seventh Framework Programme (FP7)
305121European Union Seventh Framework Programme (FP7)
305444European Union Seventh Framework Programme (FP7)
APP1055319Australian National Health and Medical Research Council under the NHMRC-European Union Collaborative Research Grants scheme