Plöthner Marika, Schmidt Katharina, Schips Clarissa, Damm Kathrin
Leibniz University of Hannover, Center for Health Economics Research Hannover (CHERH), Germany.
Pharmgenomics Pers Med. 2018 Feb 14;11:7-21. doi: 10.2147/PGPM.S149803. eCollection 2018.
The aim of this study was to identify the preferences for whole genome sequencing (WGS) tests without genetic counseling.
A discrete choice experiment was conducted where participants chose between two hypothetical alternatives consisting of the following attributes: test accuracy, test costs, identified diseases, probability of disease occurrence, and data access. People from the general German population aged ≥18 years were eligible to participate in the survey. We estimated generalized linear mixed effects models, latent class mixed-logit models, and the marginal willingness to pay.
Three hundred and one participants were included in the final analysis. Overall, the most favored WGS testing attributes were 95% test accuracy, report of severe hereditary diseases and 40% probability of disease development, test costs of €1,000, and access to test results for researchers. Subgroup analysis, however, showed differences in these preferences between males and females. For example, males preferred reporting of results at a 10% probability of disease development and females preferred reporting of results at a 40% probability. The test cost, participant's educational level, and access to data influenced the willingness to participate in WGS testing in reality.
The German general population was aware of the importance of genetic research and preferred to provide their own genetic data for researchers. However, among others, the reporting of results with a comparatively relatively low probability of disease development at a level of 40%, and the test accuracy of 95% had a high preference. This shows that the results and consequences of WGS testing without genetic counseling are hard to assess for individuals. Therefore, WGS testing should be supported by qualified genetic counseling, where the attributes and consequences are explained.
本研究旨在确定在没有遗传咨询的情况下对全基因组测序（WGS）检测的偏好。
进行了一项离散选择实验，参与者在两个假设的选项之间进行选择，这些选项包含以下属性：检测准确性、检测成本、已识别疾病、疾病发生概率和数据访问权限。年龄≥18岁的德国普通人群有资格参与该调查。我们估计了广义线性混合效应模型、潜在类别混合逻辑模型以及边际支付意愿。
最终分析纳入了301名参与者。总体而言，最受青睐的WGS检测属性是95%的检测准确性、严重遗传性疾病报告以及40%的疾病发展概率、1000欧元的检测成本以及研究人员可获取检测结果。然而，亚组分析显示男性和女性在这些偏好上存在差异。例如，男性更喜欢在疾病发展概率为10%时报告结果，而女性更喜欢在疾病发展概率为40%时报告结果。检测成本、参与者的教育水平以及数据访问权限影响了实际参与WGS检测的意愿。
德国普通人群意识到了基因研究的重要性，并愿意为研究人员提供自己的基因数据。然而，除此之外，在疾病发展概率为40%这一相对较低水平时报告结果以及95%的检测准确性受到高度偏好。这表明对于个体而言，没有遗传咨询的WGS检测结果和后果难以评估。因此，WGS检测应由合格的遗传咨询提供支持，其中应解释相关属性和后果。
