Vornanen M, Aktan-Collan K, Hallowell N, Konttinen 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, Oxford, UK.
J Genet Couns. 2019 Apr;28(2):343-354. doi: 10.1007/s10897-018-0288-7. Epub 2018 Dec 14.
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.
全基因组测序可能会产生次要发现（SFs）。建议将经过验证的、具有临床可操作性的次要发现反馈给患者/研究参与者。为了探究公众对于实现这一目标的最佳方式的看法，我们在芬兰成年人中开展了一项 vignette 研究。我们的目的是探究外行人对不同类型的假设性基因组次要发现会作何反应。参与者收到一封假设性信件，其中揭示了一种易引发严重但可采取行动的疾病——心血管疾病（家族性高胆固醇血症、长 QT 综合征）或癌症（林奇综合征、李-佛美尼综合征）的次要发现。参与者（N = 29）写下他们的初始反应，并在焦点小组中（N = 23）进行了讨论。使用归纳主题分析法对数据进行了分析。对假设性次要发现的反应因对疾病的感知严重程度和熟悉程度而异。与心血管疾病相比，癌症的次要发现被认为更具威胁性，但比参与者自发提及的精神或神经疾病风险带来的痛苦要小。在这些疾病类型中，从实际生活经历来看的疾病严重程度、治疗的可及性、耻辱感以及个人控制风险的责任被认为各不相同。除了临床有效性和实用性之外，次要发现报告实践还需要考虑不同疾病潜在的熟悉程度和外行人对疾病的认知。
