School of Psychology, The University of Sydney, Sydney, NSW, Australia.
J Genet Couns. 2021 Aug;30(4):1143-1155. doi: 10.1002/jgc4.1398. Epub 2021 Mar 31.
Cancer-related illness uncertainty has been associated with poorer psychological outcomes for patients. While some cancer patients believe obtaining genomic information will reduce their illness uncertainty, the complexity of genomics has the potential to compound illness uncertainty. The aim of this mixed-methods study was to investigate uncertainty in patients with a cancer of likely heritable origin immediately following their decision to have germline genome sequencing. Participant (N = 348) negative attitudes toward uncertainty were associated with higher satisfaction with decision to have germline genome sequencing and greater fear of cancer recurrence. Thematic analysis of semi-structured interviews with a subset of participant (N = 20) revealed the following four themes: (a) germline genome sequencing to reduce illness uncertainty; (b) germline genome sequencing to reduce uncertainty related to relatives' risk; (c) uncertainty generated by germline genome sequencing; and (d) resilience and coping with uncertainty. This study demonstrated the complexity of uncertainty in germline genome sequencing in cancer patients. These results provide genomic healthcare professionals with important information about cancer patient's motivation to pursue germline genome sequencing, the specific uncertainties generated by germline genome sequencing, and how cancer patients cope with uncertainty.
癌症相关疾病的不确定性与患者较差的心理结局有关。虽然一些癌症患者认为获得基因组信息将降低他们的疾病不确定性，但基因组学的复杂性有可能使疾病不确定性更加复杂。本混合方法研究的目的是调查遗传性起源癌症患者在决定进行种系基因组测序后即刻的不确定性。参与者（N=348）对不确定性的消极态度与对种系基因组测序决策的更高满意度和对癌症复发的更大恐惧有关。对一组参与者（N=20）的半结构化访谈的主题分析揭示了以下四个主题：(a) 种系基因组测序以降低疾病不确定性；(b) 种系基因组测序以降低与亲属风险相关的不确定性；(c) 种系基因组测序产生的不确定性；以及 (d) 适应和应对不确定性。本研究展示了癌症患者种系基因组测序中不确定性的复杂性。这些结果为基因组医疗保健专业人员提供了有关癌症患者进行种系基因组测序的动机、种系基因组测序产生的特定不确定性以及癌症患者如何应对不确定性的重要信息。
