PURPOSE:Little is known about the factors that influence patients' preferences for the return of incidental findings from genome sequencing. This study identified attributes of incidental findings that were important to patients and developed a discrete-choice experiment instrument to quantify patient preferences. METHODS:An initial set of key attributes and attribute levels was developed from a literature review and in consultation with experts. The attributes' salience and communication were refined using focus group methodology (n = 12) and cognitive interviews (n = 6) with patients who had received conventional genetic testing for familial colorectal cancer or polyposis syndromes. The attributes and levels used in the hypothetical choices presented to participants were identified using validated experimental design techniques. RESULTS:The final discrete-choice experiment instrument incorporates the following attributes and levels: lifetime risk of disease (5, 40, 70%); disease treatability (medical, lifestyle, none); disease severity (mild, moderate, severe); carrier status (yes, no); drug response likelihood (high, moderate, none); and test cost ($250, $425, $1,000, $1,900). CONCLUSION:Patient preferences for incidental genomic findings are likely influenced by a complex set of diverse attributes. Quantification of patient preferences can inform patient-provider communication by highlighting the attributes of incidental findings that matter most to patients and warrant further discussion.

译文

目的:关于影响患者偏爱从基因组测序中获得偶然发现的因素的了解甚少。这项研究确定了对患者很重要的偶然发现的属性,并开发了一种离散选择的实验工具来量化患者的喜好。
方法:通过文献综述并与专家协商,初步建立了关键属性和属性级别的初始集合。使用焦点组方法(n = 12)和认知访谈(n = 6)对接受了家族性结直肠癌或息肉病综合征常规基因检测的患者的属性的显着性和沟通进行了细化。使用经过验证的实验设计技术确定了呈现给参与者的假设选择中使用的属性和水平。
结果:最终的离散选择实验仪器具有以下属性和水平:终身疾病风险(5%,40%,70%);疾病可治疗性(医疗,生活方式,无);疾病严重程度(轻度,中度,重度);运营商状态(是,否);药物反应可能性(高,中,无);和测试费用($ 250,$ 425,$ 1,000,$ 1,900)。
结论:偶然的基因组发现的患者偏好可能受到一组复杂的不同属性的影响。对患者偏爱的量化可以通过突出显示对患者最重要的偶然发现的属性,从而促进患者与提供者之间的交流,从而值得进一步讨论。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录