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The risk of re-identification versus the need to identify individuals in rare disease research

Lookup NU author(s): Professor Hanns Lochmuller, Emeritus Professor Simon WoodsORCiD



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


There is a growing concern in the ethics literature and among policy makers that de-identification or coding of personal data and biospecimens is not sufficient for protecting research subjects from privacy invasions and possible breaches of confidentiality due to the possibility of unauthorized re-identification. At the same time, there is a need in medical science to be able to identify individual patients. In particular for rare disease research there is a special and well-documented need for research collaboration so that data and biosamples from multiple independent studies can be shared across borders. In this article, we identify the needs and arguments related to de-identification and re-identification of patients and research subjects and suggest how the different needs may be balanced within a framework of using unique encrypted identifiers.

Publication metadata

Author(s): Hansson MG, Lochmuller H, Riess O, Schaefer F, Orth M, Rubinstein Y, Molster C, Dawkins H, Taruscio D, Posada M, Woods S

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2016

Volume: 24

Issue: 11

Pages: 1553-1558

Print publication date: 01/11/2016

Online publication date: 25/05/2016

Acceptance date: 21/04/2016

Date deposited: 03/01/2017

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/ejhg.2016.52


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Funder referenceFunder name
BioBanking and Molecular Resource Infrastructure of Sweden project - Swedish Research Council
European Union Seventh Framework Programme BBMRI-LPC
European Union Seventh Framework Programme Euro-TEAM
European Union Seventh Framework Programme BiobankCloud
115142-1Innovative Medicines Initiative project BT-Cure
305121European Union Seventh Framework Programme
305444European Union Seventh Framework Programme
APP1055319Australian National Health and Medical Research Council RD-Connect project under NHMRC-European Union Collaborative Research Grants scheme