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INDIVIDUAL GENETIC RESEARCH RESULTS: Uncertainties, Conceptions, and Preferences
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
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 [en]
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: urn:nbn:se:uu:diva-356567ISBN: 978-91-513-0395-6 (print)OAI: oai:DiVA.org:uu-356567DiVA, id: diva2:1236203
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
List of papers
1. Incidental Findings: The Time Is not yet Ripe for a Policy for Biobanks
Open this publication in new window or tab >>Incidental Findings: The Time Is not yet Ripe for a Policy for Biobanks
2015 (English)In: Ethics, Law and Governance of Biobanking: National, European and International Approaches / [ed] Mascalzoni, Deborah, Springer, 2015Chapter in book (Refereed)
Place, publisher, year, edition, pages
Springer, 2015
Series
International Library of Ethics Law and Technology, ISSN 1875-0044 ; 14
National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-244975 (URN)9789401795739 (ISBN)
Available from: 2015-02-23 Created: 2015-02-23 Last updated: 2018-08-01Bibliographically approved
2. Freedom of Choice about Incidental Findings can frustrate participants’ true preferences
Open this publication in new window or tab >>Freedom of Choice about Incidental Findings can frustrate participants’ true preferences
2016 (English)In: Bioethics, ISSN 0269-9702, E-ISSN 1467-8519, Vol. 30, no 3, p. 203-209Article in journal (Refereed) Published
Abstract [en]

Ethicists, regulators and researchers have struggled with the question of whether incidental findings in genomics studies should be disclosed to participants. In the ethical debate, a general consensus is that disclosed information should benefit participants. However, there is no agreement that genetic information will benefit participants, rather it may cause problems such as anxiety. One could get past this disagreement about disclosure of incidental findings by letting participants express their preferences in the consent form. We argue that this freedom of choice is problematic.

In transferring the decision to participants, it is assumed that participants will understand what they decide about and that they will express what they truly want. However, psychological findings about people's reaction to probabilities and risk have been shown to involve both cognitive and emotional challenges. People change their attitude to risk depending on what is at stake. Their mood affects judgments and choices, and they over- and underestimate probabilities depending on whether they are low or high. Moreover, different framing of the options can steer people to a specific choice.

Although it seems attractive to let participants express their preferences to incidental findings in the consent form, it is uncertain if this choice enables people to express what they truly prefer. In order to better understand the participants' preferences, we argue that future empirical work needs to confront the participant with the complexity of the uncertainty and the trade-offs that are connected with the uncertain predictive value of genetic risk information.

National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-244971 (URN)10.1111/bioe.12160 (DOI)000371487500010 ()
Funder
Riksbankens Jubileumsfond, PR2013-0123EU, FP7, Seventh Framework Programme, 305444Swedish Research CouncilSwedish Heart Lung Foundation
Available from: 2015-02-23 Created: 2015-02-23 Last updated: 2018-08-01Bibliographically approved
3. Making sense of genetic risk: A qualitative focus-group study of healthy participants in genomic research
Open this publication in new window or tab >>Making sense of genetic risk: A qualitative focus-group study of healthy participants in genomic research
Show others...
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.

Keywords
Lay understanding; Conception of genetic risk; Making sense of genetic risk in research; Genetic risk communication
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-330221 (URN)10.1016/j.pec.2017.09.009 (DOI)000427826300007 ()
Available from: 2017-09-27 Created: 2017-09-27 Last updated: 2018-08-01Bibliographically approved
4. Research participants’ preferences for receiving incidental genetic risk information: a discrete choice experiment
Open this publication in new window or tab >>Research participants’ preferences for receiving incidental genetic risk information: a discrete choice experiment
Show others...
(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:nbn:se:uu:diva-356552 (URN)
Available from: 2018-08-01 Created: 2018-08-01 Last updated: 2018-08-01

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