The study describes patient‐reported experiences and recommendations to improve the genetic counseling and multigene panel testing (MGPT) process. A descriptive mixed‐method study with concurrently collected and integrated qualitative and quantitative data was conducted. Eligible participants were English‐speaking adults with a breast or gynecologic cancer diagnosis who had received genetic counseling and testing with a MGPT from one Comprehensive Cancer Center. Satisfaction with the genetic counseling, genetic knowledge using a recently validated scale (KnowGene), the multidimensional impact of cancer risk assessment (MICRA), family communication, and the association with demographic factors were evaluated. To supplement the large quantitative data set, qualitative focus group responses and open‐ended text items were collected. Univariate and multivariable associations between each outcome of interest and personal characteristics were assessed. Qualitative data were content‐analyzed. 603 participants completed the survey (48% response rate) and 10 individuals participated in the focus groups. Participants were mostly Caucasian, educated with a college degree or more, and female with median age 58 (24–91), and 78% of participants had a breast cancer diagnosis. Of all individuals undergoing genetic testing using a MGPT, 13% had a pathogenic variant identified, and 30% had a variant of uncertain significance (VUS). Overall, participants reported satisfaction with the genetic counseling and testing process (mean 36.9 [SD 4.7]). On average, participants had 7 incorrect answers out of 19 on the genetic knowledge scale (mean 12.3 [SD 3.4]). MICRA scores showed overall low levels of distress and uncertainty, as well as positive experiences, with wide variability (median 17 [0–84]). Age, marital status, education level, type of cancer diagnosis, and genetic testing results were significantly associated with outcomes. Most participants communicated genetic testing results to mainly female first‐degree relatives. A wide range of individual preferences affecting overall satisfaction, or suggestions for improvement were shared. As new models of streamlined cancer genetic services are being clinically implemented, approaches should continue to assess and tailor the process based on patients’ informational and emotional needs.

中文翻译：

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以患者为主导的建议为多基因面板测试时代的癌症遗传学护理模型提供信息

该研究描述了患者报告的经验和建议，以改进遗传咨询和多基因面板检测 (MGPT) 过程。进行了一项描述性混合方法研究，同时收集并整合了定性和定量数据。符合条件的参与者是具有乳腺癌或妇科癌症诊断的讲英语的成年人，他们接受了一家综合癌症中心的 MGPT 遗传咨询和检测。对遗传咨询的满意度、使用最近验证的量表 (KnowGene) 的遗传知识、癌症风险评估 (MICRA) 的多维影响、家庭沟通以及与人口因素的关联进行了评估。为了补充大量的定量数据集，收集了定性焦点小组反应和开放式文本项目。评估了每个感兴趣的结果和个人特征之间的单变量和多变量关联。定性数据进行了内容分析。603 名参与者完成了调查（48% 的响应率），10 人参加了焦点小组。参与者主要是高加索人，受过大学或以上学历，女性中位年龄为 58 岁（24-91 岁），78% 的参与者被诊断为乳腺癌。在使用 MGPT 进行基因检测的所有个体中，13% 具有致病性变异，30% 具有不确定性变异 (VUS)。总体而言，参与者报告对遗传咨询和检测过程感到满意（平均 36.9 [SD 4.7]）。平均而言，参与者在遗传知识量表上的 19 个答案中有 7 个不正确（平均 12.3 [SD 3.4]）。MICRA 分数显示总体低水平的痛苦和不确定性以及积极的经历，具有广泛的可变性（中位数 17 [0-84]）。年龄、婚姻状况、教育水平、癌症诊断类型和基因检测结果与结果显着相关。大多数参与者主要将基因检测结果传达给女性一级亲属。分享了影响整体满意度的各种个人偏好或改进建议。随着简化癌症遗传服务的新模式正在临床实施，方法应继续根据患者的信息和情感需求评估和定制流程。癌症诊断类型和基因检测结果与结果显着相关。大多数参与者主要将基因检测结果传达给女性一级亲属。分享了影响整体满意度的各种个人偏好或改进建议。随着简化癌症遗传服务的新模式正在临床实施，方法应继续根据患者的信息和情感需求评估和定制流程。癌症诊断类型和基因检测结果与结果显着相关。大多数参与者主要将基因检测结果传达给女性一级亲属。分享了影响整体满意度的各种个人偏好或改进建议。随着简化癌症遗传服务的新模式正在临床实施，方法应继续根据患者的信息和情感需求评估和定制流程。