‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research (original) (raw)

European Journal of Human Genetics volume 24, pages 1403–1408 (2016)Cite this article

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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.

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Acknowledgements

We thank the RD Patient and Ethics Council and RD-Connect Patient Advisory Council for assistance with research design (Jean Jacques Cassiman, Tracy Dudding, Muriel Gevrey, Emma Heslop, Joseph Irwin, Julian Isla, Sigurður Jóhannesson, Lydia Lemonnier, Chantal Loirat, Dorthe Lykke, Milan Macek, Kay Parkinson, Odile Perrousseaux, Marita Pohlschmidt, Daniel Renault, Peter Reussner, Francoise Rouault, Balthasar Schaap, Inge Schwersenz, Chris Sotirelis, Volker Straub, Oliver Timmis, Marieke van Meel, Elizabeth Vroom) and Cathy Turner for her invaluable contribution. The study was supported by the Medical Research Council UK (reference G1002274, grant ID 98482) and by the European Union Seventh Framework Programme (FP7/2007–2013) under grant agreement nos. 305444 (RD-Connect) and 305121 (Neuromics).

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Authors and Affiliations

  1. PEALS Research Centre, Newcastle University, Newcastle upon Tyne, UK
    Pauline McCormack & Simon Woods
  2. EURORDIS, Paris, France
    Anna Kole
  3. Istituto Superiore di Sanità, Rome, Italy
    Sabina Gainotti
  4. Centre for Research Ethics & Bioethics, Uppsala University, Uppsala, Sweden
    Deborah Mascalzoni
  5. Office of Population Health Genomics, Perth, Western Australia, Australia
    Caron Molster
  6. John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Hanns Lochmüller

Authors

  1. Pauline McCormack
  2. Anna Kole
  3. Sabina Gainotti
  4. Deborah Mascalzoni
  5. Caron Molster
  6. Hanns Lochmüller
  7. Simon Woods

Corresponding author

Correspondence toPauline McCormack.

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The authors declare no conflict of interest.

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McCormack, P., Kole, A., Gainotti, S. et al. ‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research.Eur J Hum Genet 24, 1403–1408 (2016). https://doi.org/10.1038/ejhg.2016.30

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