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Making sense of genetic risk: A qualitative focus-group study of healthy participants in genomic research
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics. (Centrum för forsknings- och bioetik)ORCID iD: 0000-0001-9533-9274
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.ORCID iD: 0000-0001-5208-999X
Clinical Genetics, Sahlgrenska University Hospital.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
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2018 (English)In: Patient Education and Counseling, ISSN 0738-3991, E-ISSN 1873-5134, Vol. 101, no 3, p. 422-427Article in journal (Refereed) Published
Abstract [en]

Objective

It is well known that research participants want to receive genetic risk information that is about high risks, serious diseases and potential preventive measures. The aim of this study was to explore, by qualitative means, something less well known: how do healthy research participants themselves make sense of genetic risk information?

Method

A phenomenographic approach was chosen to explore research participants’ understanding and assessment of genetic risk. We conducted four focus-group (N = 16) interviews with participants in a research programme designed to identify biomarkers for cardiopulmonary disease.

Results

Among the research participants, we found four ways of understanding genetic risk: as a binary concept, as an explanation, as revealing who I am (knowledge of oneself) and as affecting life ahead.

Conclusion

Research participants tend to understand genetic risk as a binary concept. This does not necessarily imply a misunderstanding of, or an irrational approach to, genetic risk. Rather, it may have a heuristic function in decision-making.

Practical implications

Risk communication may be enhanced by tailoring the communication to the participants’ own lay conceptions. For example, researchers and counselors should address risk in binary terms, maybe looking out for how individual participants search for threshold figures.

Place, publisher, year, edition, pages
2018. Vol. 101, no 3, p. 422-427
Keywords [en]
Lay understanding; Conception of genetic risk; Making sense of genetic risk in research; Genetic risk communication
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-330221DOI: 10.1016/j.pec.2017.09.009ISI: 000427826300007OAI: oai:DiVA.org:uu-330221DiVA, id: diva2:1145055
Available from: 2017-09-27 Created: 2017-09-27 Last updated: 2018-08-01Bibliographically approved
In thesis
1. INDIVIDUAL GENETIC RESEARCH RESULTS: Uncertainties, Conceptions, and Preferences
Open this publication in new window or tab >>INDIVIDUAL GENETIC RESEARCH RESULTS: Uncertainties, Conceptions, and Preferences
2018 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

This thesis contributes to the ethical discussion on how to handle incidental findings in biomedical research using sequencing technologies from a theoretical and an empirical perspective. Study I and II are theoretical studies that used conceptual analysis. Study I demonstrates that the argument for disclosure based on the principle of beneficence ignores the complexity and uncertain predictive value of genetic risk information. The argument neglects the distinction between an incidentally discovered disease and an incidentally discovered risk for disease with unclear predictive value. Study II investigates the proposal to let participants express their preferences to incidental genetic findings in the consent form. The study argues that this freedom of choice is problematic because it is uncertain whether the opportunity to choose in the consent phase enables people to express what they truly prefer. Participants might be steered to a specific answer depending on mood, triggered feelings, and the framing of the question.

The second part of the thesis is empirical and used both a qualitative and a quantitative approach. Study III investigates research participants’ understanding of genetic risk and used a phenomenographic approach and focus group interviews. One result was that participants understood genetic risk in binary terms. This understanding involved an either/or concept of genetic risk. Participants tend not to understand genetic risk as a probability. They also interpreted the information in terms of their past, present, and future life. Study IV used a questionnaire with a stated preference technique called Discrete Choice Experiments (DCE) to investigate participants’ preferences for genetic risk information. An effective preventive measure was the most important characteristic for research participants in their decision to be given genetic risk information. When the disease was life threatening, had a high penetrance probability, and had effective preventive measures, 98% of the participants wanted to know their incidental genetic risk information.

As genetic risk information has many different characteristics and includes many uncertainties, ethical discussions and empirical studies of people’s attitudes and preferences need to explicitly engage the complexity of genetic incidental findings.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2018. p. 72
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 1482
Keywords
Incidental findings, genetic risk information, research participants, risk perception, free choice, framing, conceptions of genetic risk, making sense of genetic risk, preferences for genetic risk information
National Category
Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
urn:nbn:se:uu:diva-356567 (URN)978-91-513-0395-6 (ISBN)
Public defence
2018-09-21, Universitetshuset, sal IX, Biskopsgatan 3, Uppsala, 09:15 (English)
Opponent
Supervisors
Available from: 2018-08-29 Created: 2018-08-01 Last updated: 2018-09-07

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Viberg, JenniferSegerdahl, PärHansson, Mats G.Langenskiöld, Sophie

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