Abstract
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people’s support needs after receiving SFs have received less attention. We explored Finnish adults’ perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome. Transcribed focus group discussions were analyzed using inductive thematic analysis. Major themes were immediate shock, dealing with worry and heightened risk, fear of being left alone to deal with SFs, disclosing to family, and identified support needs. Despite their willingness to receive SFs, participants were concerned about being left alone to deal with them. Empathetic expert support and timely access to preventive care were seen as essential to coping with shock and worry, and disclosing SFs to family. Discussion around SFs needs to concern not only which findings to report, but also how healthcare systems need to prepare for providing timely access to preventive care and support for individuals and families.
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Funding
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.
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Marleena Vornanen, Katja Aktan-Collan, Nina Hallowell, Hanna Konttinen, and Ari Haukkala declare that they have no conflict of interest. Helena Kääriäinen works part time as Clinical Geneticist in Docrates Clinic (a private cancer clinic), and as a Clinical Consultant in Blueprint Genetics laboratory. Helena Kääriäinen has received (September 2016) an honorarium from Orion Pharma (a presentation in a Symposium for Gynaecologists; the topic was genetic testing).
Ethical approval
All procedures followed the Declaration of Helsinki ethical guidelines on research with human participants. Informed consent was obtained from all participants for being included in the study. Study protocols were approved by the University of Helsinki Ethical Review Board in the Humanities and Social and Behavioural Sciences.
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Vornanen, M., Aktan-Collan, K., Hallowell, N. et al. “I would like to discuss it further with an expert”: a focus group study of Finnish adults’ perspectives on genetic secondary findings. J Community Genet 9, 305–314 (2018). https://doi.org/10.1007/s12687-018-0356-6
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DOI: https://doi.org/10.1007/s12687-018-0356-6