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Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals

Author

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  • Mariana Amorim

    (Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), 4050-600 Porto, Portugal
    EPIUnit—Instituto de Saúde Pública, Universidade do Porto, 4050-600 Porto, Portugal)

  • Susana Silva

    (Centro em Rede de Investigação em Antropologia, Universidade do Minho, 4710-057 Braga, Portugal
    Instituto de Ciências Sociais, Universidade do Minho, 4710-057 Braga, Portugal)

  • Helena Machado

    (Instituto de Ciências Sociais, Universidade do Minho, 4710-057 Braga, Portugal)

  • Elisa Leão Teles

    (Centro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário São João, 4200-319 Porto, Portugal)

  • Maria João Baptista

    (Centro de Referência de Cardiopatias Congénitas, Centro Hospitalar Universitário São João, 4200-319 Porto, Portugal
    Departamento de Ginecologia, Obstetrícia e Pediatria, Faculdade de Medicina, Universidade do Porto, 4200-319 Porto, Portugal)

  • Tiago Maia

    (Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), 4050-600 Porto, Portugal
    EPIUnit—Instituto de Saúde Pública, Universidade do Porto, 4050-600 Porto, Portugal)

  • Ngozi Nwebonyi

    (Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), 4050-600 Porto, Portugal
    EPIUnit—Instituto de Saúde Pública, Universidade do Porto, 4050-600 Porto, Portugal)

  • Cláudia de Freitas

    (Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), 4050-600 Porto, Portugal
    EPIUnit—Instituto de Saúde Pública, Universidade do Porto, 4050-600 Porto, Portugal
    Departamento de Ciências da Saúde Pública e Forenses e Educação Médica, Faculdade de Medicina, Universidade do Porto, 4200-319 Porto, Portugal)

Abstract

Assessing public and patients’ expectations and concerns about genomic data sharing is essential to promote adequate data governance and engagement in rare diseases genomics research. This cross-sectional study compared the views of 159 rare disease patients, 478 informal carers and 63 healthcare professionals in Northern Portugal about the benefits and risks of sharing genomic data for research, and its associated factors. The three participant groups expressed significantly different views. The majority of patients (84.3%) and informal carers (87.4%) selected the discovery of a cure for untreatable diseases as the most important benefit. In contrast, most healthcare professionals revealed a preference for the development of new drugs and treatments (71.4%), which was the second most selected benefit by carers (48.3%), especially by the more educated (OR (95% CI): 1.58 (1.07–2.34)). Lack of security and control over information access and the extraction of information exceeding research objectives were the two most often selected risks by patients (72.6% and 50.3%, respectively) and carers (60.0% and 60.6%, respectively). Conversely, professionals were concerned with genomic data being used to discriminate citizens (68.3%), followed by the extraction of information exceeding research objectives (54.0%). The latter risk was more frequently expressed by more educated carers (OR (95% CI): 1.60 (1.06–2.41)) and less by those with blue-collar (OR (95% CI): 0.44 (0.25–0.77) and other occupations (OR (95% CI): 0.44 (0.26–0.74)). Developing communication strategies and consent approaches tailored to participants’ expectations and needs can benefit the inclusiveness of genomics research that is key for patient-centred care.

Suggested Citation

  • Mariana Amorim & Susana Silva & Helena Machado & Elisa Leão Teles & Maria João Baptista & Tiago Maia & Ngozi Nwebonyi & Cláudia de Freitas, 2022. "Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals," IJERPH, MDPI, vol. 19(14), pages 1-16, July.
    • Handle: RePEc:gam:jijerp:v:19:y:2022:i:14:p:8788-:d:866402
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    References listed on IDEAS

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    1. Rita Francisco & Sandra Brasil & Carlota Pascoal & Andrew C. Edmondson & Jaak Jaeken & Paula A. Videira & Cláudia de Freitas & Vanessa dos Reis Ferreira & Dorinda Marques-da-Silva, 2022. "A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation," IJERPH, MDPI, vol. 19(11), pages 1-19, June.
    2. Serapioni, Mauro & Matos, Ana Raquel, 2014. "Citizen participation and discontent in three Southern European health systems," Social Science & Medicine, Elsevier, vol. 123(C), pages 226-233.
    3. Mendes, Álvaro & Sousa, Liliana & Sequeiros, Jorge & Clarke, Angus, 2017. "Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal," Social Science & Medicine, Elsevier, vol. 182(C), pages 73-80.
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