Abstract
Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics’ perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Our aim was to explore how lay people react to different types of hypothetical genomic SFs. Participants received a hypothetical letter revealing a SF predisposing to a severe but actionable disease—cardiovascular disease (familial hypercholesterolemia, long QT syndrome) or cancer (Lynch syndrome, Li–Fraumeni syndrome). Participants (N = 29) wrote down their initial reactions, and discussed (N = 23) these in focus groups. Data were analyzed using inductive thematic analysis. Reactions to hypothetical SFs varied according to perceived severity and familiarity of the diseases. SFs for cancer were perceived as more threatening than for cardiovascular diseases, but less distressing than risk for psychiatric or neurological disorders, which participants spontaneously brought up. Illness severity in terms of lived experience, availability of treatment, stigma, and individual’s responsibility to control risk were perceived to vary across these disease types. In addition to clinical validity and utility, SF reporting practices need to take into account potential familiarity and lay illness representations of different diseases. Illness representations may influence willingness to receive SFs, and individuals’ reactions to this information.
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Acknowledgements
This study was funded by the Academy of Finland (grant 275033 to AH). Funding source had no involvement in study design, data collection, analysis or interpretation, in writing the report, or in decision to submit the article for publication. The study was conducted as part of MV’s doctoral training. We would like to express our very great appreciation to each participant of the study.
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Contributions
All authors participated substantively in the preparation of the manuscript. MV contributed to study design, moderated focus group interviews, was primarily responsible for analysis and interpretation of the data, and for writing the manuscript. KA-C contributed to study design, moderated focus group interviews, substantially supported analysis and interpretation of the data, and edited and revised the manuscript. NH contributed to study design, provided insight into relevant literature, supported the analysis and interpretation of the data, and edited and revised the manuscript. HK contributed to study design and data collection process, and critically revised the manuscript. AH was primarily responsible for conceptualization, study design and data collection process, and critically revised the manuscript. All authors read and approved the final manuscript and agree to be accountable for all aspects of the work.
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Conflict of Interest
M. Vornanen, K. Aktan-Collan, N. Hallowell, H. Konttinen and A. Haukkala declare that they have no conflict of interest.
Human Studies and Informed Consent Statement
All procedures followed were approved by University of Helsinki Ethical Review Board in the Humanities and Social and Behavioral Sciences and in accordance with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all individual participants for being included in the study.
Animal Studies
No animal studies were carried out by the authors for this article.
Appendix. Topic guide for focus groups
Appendix. Topic guide for focus groups
We (MV & KA-C) welcome all participants and introduce ourselves. We tell the participants that they need not tell their names, and the interview is recorded and transcribed so that the researchers can analyze the conversation. We remind them that participants’ names will not be linked to citations. All citations will be made so that anonymity is secured. The transcribed data will be stored behind locked doors.
Participants are told they no longer need to imagine themselves as the recipient of the letter. They can comment it from whichever position they like.
We tell them that each participant read a letter, but under the present discussion there are two versions of it, i.e. risk information on two different diseases. In the present group, the participants have received letters concerning diseases x and y (see table below), and we will go through them together.
Focus group | ||
|---|---|---|
A | Long QT syndrome | Lynch syndrome |
B | Familial hypercholesterolemia | Li–Fraumeni syndrome |
C | Familial hypercholesterolemia | Lynch syndrome |
D | Long QT syndrome | Li–Fraumeni syndrome |
The participants may ask questions and interrupt the interviewers freely. The interviewers appoint speaking turns if needed. Lastly, the participants are told that there are certain themes to be discussed during the allocated time frame.
Opening the discussion
Instant reactions or spontaneous comments on the letter
How do you feel at the moment/What do you think about the letter or the finding it concerns?
What was your first reaction after reading the letter?
Was there something scary/threatening?
Was there something relieving?
How did the letter appear in general?
How would you change the letter?
How would you like to know about the finding?
Have your thoughts changed after the first reaction?
Disease and understanding of susceptibility
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At some point of the discussion, the participants are told more about the two diseases (slide show), and also other diseases if necessary. When need for this knowledge arises, the participants are asked to first describe what they have learned about the diseases so far. After this, they are told what is known about the diseases in the medical field. This is why delivering knowledge on the diseases is not strictly fixed to any particular phase of the interview.
What did the disease seem like?
Could someone interpret the letter to mean that they already have the disease instead of only susceptibility?
How do you define susceptibility and illness?
Based on the letter, what kind of disease is this? How likely is it?
Search for knowledge
Did you try to find out information on the disease after the letter?
If you did, where did you find information?
What did you find out?
What did you try to find out?
Did the disease seem different after searching information, how?
Family and heritability
At which point did the letter raise thoughts about family?
What kind of thoughts and questions arose concerning family?
Do you have previous experience on heritable diseases?
Why did you choose to participate this study?
Recommendations for practical implication
What kind of diseases or susceptibilities would you like to be informed of in the future?
How should this information be delivered?
Consent to receiving information
If you imagine having consented to receiving information on genetic susceptibilities during a medical appointment, would you like to decline this sort of information after receiving this letter?
In practice, how should consent be obtained, when dealing with issues like this?
(We may tell them how consent is obtained, for instance, in the Finnish biobank research register.)
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Vornanen, M., Aktan-Collan, K., Hallowell, N. et al. Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study. J Genet Counsel (2018). https://doi.org/10.1007/s10897-018-0288-7
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DOI: https://doi.org/10.1007/s10897-018-0288-7