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Research participants’ preferences for receiving incidental genetic risk information: a discrete choice experiment
(Centrum för forsknings- & bioetik (CRB))ORCID iD: 0000-0001-9533-9274
(Institutionen för medicinska vetenskaper)
(Centrum för forsknings- & bioetik)
(Centrum för forsknings- & bioetik)
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(English)In: Genetics in Medicine, ISSN 1098-3600, E-ISSN 1530-0366Article in journal (Refereed) Submitted
National Category
Public Health, Global Health, Social Medicine and Epidemiology Other Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-356552OAI: oai:DiVA.org:uu-356552DiVA, id: diva2:1236202
Available from: 2018-08-01 Created: 2018-08-01 Last updated: 2018-08-01
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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