Halverson Colin M E, Wessinger Bronson C, Clayton Ellen W, Wiesner Georgia L
Center for Bioethics, Indiana University School of Medicine, Indianapolis, IN, USA.
Vanderbilt University School of Medicine, Nashville, TN, USA.
J Genet Couns. 2020 Feb;29(1):18-24. doi: 10.1002/jgc4.1174. Epub 2019 Sep 25.
Patients at risk for hereditary cancer syndromes sometimes decline clinically appropriate genetic testing. The purpose of the current study was to understand what preferences, concerns, and desires informed their refusal as well as their current level of interest in being tested. We interviewed patients who had been seen in a hereditary cancer clinic at Vanderbilt University Medical Center and had declined genetic testing. In all, 21 in-depth, semi-structured qualitative interviews were conducted. Although patients provided many reasons for declining testing, they most often cited their psychosocial state at the time of the initial invitation to participate in genetic testing as their reason for refusal. The majority (67%) said that they either would or had changed their mind about testing if/when their clinicians 'mentioned it again'. Patients at risk for hereditary cancer who refuse testing at the time of genetic counseling may later change their mind. In particular, if a patient declines testing around the time of a major medical diagnosis or intervention, clinicians who are providing ongoing care may want to raise the topic afresh after the patient has had time to recover from initial distress related to diagnosis or treatment. Strategies to prompt clinicians to have these conversations are suggested.
有遗传性癌症综合征风险的患者有时会拒绝临床适当的基因检测。本研究的目的是了解哪些偏好、担忧和愿望促使他们拒绝检测，以及他们目前对检测的兴趣程度。我们采访了在范德比尔特大学医学中心遗传性癌症诊所就诊且拒绝基因检测的患者。总共进行了21次深入的半结构化定性访谈。尽管患者给出了许多拒绝检测的理由，但他们最常提到的是在最初被邀请参加基因检测时的心理社会状态作为拒绝的原因。大多数（67%）表示，如果临床医生再次提及，他们会或已经改变了对检测的想法。在遗传咨询时拒绝检测的有遗传性癌症风险的患者以后可能会改变主意。特别是，如果患者在重大医疗诊断或干预时拒绝检测，提供持续护理的临床医生可能想在患者有时间从与诊断或治疗相关的初始痛苦中恢复后重新提出这个话题。文中还提出了促使临床医生进行这些谈话的策略。
