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上皮性卵巢癌女性对基因检测各方面的偏好。

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

作者信息

Davidson Brittany A, Ehrisman Jessie, Reed Shelby D, Yang Jui-Chen, Buchanan Adam, Havrilesky Laura J

机构信息

1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Duke University Medical Center, Duke Cancer Institute, Box 3079, Durham, NC 27710 USA.

2Duke Clinical Research Institute, Duke University, Durham, USA.

出版信息

Gynecol Oncol Res Pract. 2019 Jan 22;6:1. doi: 10.1186/s40661-019-0066-8. eCollection 2019.

Abstract

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.

摘要

背景

尽管推荐对上皮性卵巢癌(EOC)女性进行基因检测,但对于各种检测选项的患者偏好知之甚少。我们测量了转诊进行遗传咨询的EOC女性对检测属性的相对偏好。

方法

招募受试者参与一项离散选择实验调查,以了解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)、有害突变概率(60%、80%或88%)、意义不明确的变异(VUS)结果概率(5%、20%或40%)、样本要求(血液或唾液)以及周转时间(1周、2周或4周)。受试者观看教育视频,然后在一系列具有不同属性水平的虚拟基因检测对之间进行选择。使用随机参数logit估计属性水平的偏好权重。计算相对重要性权重和货币等价价值。

结果

94名患者入组;68名(76.4%)前来进行遗传咨询。检测成本是受试者最重要的属性(重要性权重为100分中的41分),其次是检测有害突变的概率(36分)和VUS结果的概率(20分)。样本要求和周转时间并未驱动检测选择。受试者愿意分别额外支付155美元和70美元,以换取检测有害突变概率和VUS结果概率分别提高5%。在遗传咨询时,55/68(80.9%)的受试者选择了多基因检测。

结论

考虑进行基因检测的EOC患者更喜欢自付费用低、检测有害突变概率高以及VUS结果概率高的检测。

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