Vornanen M, Aktan-Collan K, Hallowell N, Konttinen H, Kääriäinen H, Haukkala A
Department of Social Research, University of Helsinki, Unioninkatu 37, P.O. Box 54, 00014, Helsinki, Finland.
Big Data Institute and the Ethox Centre, Nuffield Department of Population Health, University of Oxford, Old Road, Oxford, OX3 7LF, UK.
J Community Genet. 2018 Jul;9(3):305-314. doi: 10.1007/s12687-018-0356-6. Epub 2018 Jan 16.
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.
基因组测序成本的降低有助于分析大片段的遗传数据。伦理辩论主要集中在是否报告以及报告何种偶然发现或次要发现(SFs),以及如何获得有效的知情同意。然而,人们在收到SFs后的支持需求却较少受到关注。我们探讨了芬兰成年人对报告遗传性SFs的看法。在这项包括四次焦点小组讨论(N = 23)的定性研究中,我们使用了四封短文信,每封信都报告了一种易患不同疾病的遗传性SFs:家族性高胆固醇血症、长QT综合征、林奇综合征和李-佛美尼综合征。使用归纳主题分析法对转录的焦点小组讨论进行了分析。主要主题包括即时震惊、应对担忧和增加的风险、害怕独自应对SFs、向家人披露,以及确定的支持需求。尽管参与者愿意接受SFs,但他们担心会独自应对这些问题。富有同情心的专家支持和及时获得预防性护理被视为应对震惊和担忧以及向家人披露SFs的关键。围绕SFs的讨论不仅需要关注报告哪些发现,还需要关注医疗系统如何做好准备,以便及时为个人和家庭提供预防性护理和支持。