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'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

Lookup NU author(s): Dr Pauline McCormack, Professor Hanns Lochmuller

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


Abstract

Within the myriad articles about participants' opinions of genomics research, the views of a distinct group - people with a rare disease (RD) - are unknown. It is important to understand if their opinions differ from the general public by dint of having a rare disease and vulnerabilities inherent in this. Here we document RD patients' attitudes to participation in genomics research, particularly around large-scale, international data and biosample sharing. This work is unique in exploring the views of people with a range of rare disorders from many different countries. The authors work within an international, multidisciplinary consortium, RD-Connect, which has developed an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for RD research. Focus groups were conducted with 52 RD patients from 16 countries. Using a scenario-based approach, participants were encouraged to raise topics relevant to their own experiences, rather than these being determined by the researcher. Issues include wide data sharing, and consent for new uses of historic samples and for children. Focus group members are positively disposed towards research and towards allowing data and biosamples to be shared internationally. Expressions of trust and attitudes to risk are often affected by the nature of the RD which they have experience of, as well as regulatory and cultural practices in their home country. Participants are concerned about data security and misuse. There is an acute recognition of the vulnerability inherent in having a RD and the possibility that open knowledge of this could lead to discrimination.


Publication metadata

Author(s): McCormack P, Kole A, Gainotti S, Mascalzoni D, Molster C, Lochmüller H, Woods S

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2016

Volume: 24

Pages: 1403-1408

Print publication date: 01/10/2016

Online publication date: 06/04/2016

Acceptance date: 01/03/2016

Date deposited: 26/04/2016

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: https://doi.org/10.1038/ejhg.2016.30

DOI: 10.1038/ejhg.2016.30

PubMed id: 27049302


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Funding

Funder referenceFunder name
305121European Union Seventh Framework Programme (FP7)
305444European Union Seventh Framework Programme (FP7)
98482Medical Research Council UK
G1002274Medical Research Council UK

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