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Preferences of women with epithelial ovarian cancer for aspects of genetic testing

机译:上皮性卵巢癌女性在基因检测方面的偏爱

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Background Although genetic testing is recommended for women with epithelial ovarian cancer (EOC), little is known about patient preferences for various testing options. We measured relative preferences for attributes of testing in women with EOC referred for genetic counseling. Methods Subjects were recruited to participate in a discrete-choice-experiment survey to elicit preferences for attributes of genetic testing: out-of-pocket cost ($0, $100, $250, or $1000), probability of a deleterious mutation (60, 80%, or 88%), probability of a variant of uncertain significance (VUS) result (5, 20%, or 40%), sample requirements (blood or saliva), and turn-around time (1, 2 or 4?weeks). Subjects viewed educational videos followed by a series of choices between pairs of constructed genetic tests with varying attribute levels. Random-parameters logit was used to estimate preference weights for attribute levels. Relative importance weights and money-equivalent values were calculated. Results Ninety-four patients were enrolled; 68 (76.4%) presented for genetic counseling. Test cost was the most important attribute to subjects (importance weight?=?41 out of 100) followed by probability to detect deleterious mutations (36) and probability of a VUS result (20). Sample requirements and turnaround time did not drive test choices. Subjects were willing to pay an additional $155 and $70 for incremental 5% improvements in the probability to detect deleterious mutations and probability of a VUS result. At genetics consultation, 55/68 (80.9%) subjects chose multigene testing. Conclusions Low out-of-pocket cost, high probability of detecting deleterious mutations and high probability of a VUS result are preferred by patients with EOC considering genetic testing.
机译:背景技术尽管建议对患有上皮性卵巢癌(EOC)的女性进行基因检测,但对于患者对各种检测方法的偏爱知之甚少。我们测量了接受遗传咨询的EOC妇女的测试属性相对偏好。方法招募受试者参加离散选择实验调查,以激发他们对基因检测属性的偏好:自付费用(0美元,100美元,250美元或1000美元),有害突变的可能性(60%,80% ,或88%),不确定性显着性(VUS)结果变异的概率(5%,20%或40%),样本需求量(血液或唾液)以及周转时间(1、2或4周) 。受试者观看了教育视频,随后在具有不同属性水平的成对遗传测试对之间进行了一系列选择。随机参数logit用于估计属性级别的优先权重。计算了相对重要性权重和等价货币。结果共纳入94例患者。提出了68(76.4%)人进行遗传咨询。测试成本是受试者最重要的属性(重要性权重= 100中的41),其次是检测有害突变的可能性(36)和VUS结果的可能性(20)。样品要求和周转时间没有推动测试的选择。受试者愿意为检测有害突变和VUS结果的可能性增加5%的改进额外支付155美元和70美元。在遗传学咨询中,有55/68(80.9%)位受试者选择了多基因测试。结论对于考虑进行基因检测的EOC患者,首选自付费用低,检测有害突变的可能性高以及VUS结果的可能性高。

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