PDF(Pubmed)
Abstract：
BACKGROUND: Genetic testing is essential to identify research participants for clinical trials enrolling people with Parkinson disease (PD) carrying a variant in the glucocerebrosidase (GBA) or leucine-rich repeat kinase 2 (LRRK2) genes. The limited availability of professionals trained in neurogenetics or genetic counseling is a major barrier to increased testing. Telehealth solutions to increase access to genetics education can help address issues around counselor availability and offer options to patients and family members.
OBJECTIVE: As an alternative to pretest genetic counseling, we developed a web-based genetics education tool focused on GBA and LRRK2 testing for PD called the Interactive Multimedia Approach to Genetic Counseling to Inform and Educate in Parkinson\'s Disease (IMAGINE-PD) and conducted user testing and usability testing. The objective was to conduct user and usability testing to obtain stakeholder feedback to improve IMAGINE-PD.
METHODS: Genetic counselors and PD and neurogenetics subject matter experts developed content for IMAGINE-PD specifically focused on GBA and LRRK2 genetic testing. Structured interviews were conducted with 11 movement disorder specialists and 13 patients with PD to evaluate the content of IMAGINE-PD in user testing and with 12 patients with PD to evaluate the usability of a high-fidelity prototype according to the US Department of Health and Human Services Research-Based Web Design & Usability Guidelines. Qualitative data analysis informed changes to create a final version of IMAGINE-PD.
RESULTS: Qualitative data were reviewed by 3 evaluators. Themes were identified from feedback data of movement disorder specialists and patients with PD in user testing in 3 areas: content such as the topics covered, function such as website navigation, and appearance such as pictures and colors. Similarly, qualitative analysis of usability testing feedback identified additional themes in these 3 areas. Key points of feedback were determined by consensus among reviewers considering the importance of the comment and the frequency of similar comments. Refinements were made to IMAGINE-PD based on consensus recommendations by evaluators within each theme at both user testing and usability testing phases to create a final version of IMAGINE-PD.
CONCLUSIONS: User testing for content review and usability testing have informed refinements to IMAGINE-PD to develop this focused, genetics education tool for GBA and LRRK2 testing. Comparison of this stakeholder-informed intervention to standard telegenetic counseling approaches is ongoing.
OBJECTIVE: As an alternative to pretest genetic counseling, we developed a web-based genetics education tool focused on GBA and LRRK2 testing for PD called the Interactive Multimedia Approach to Genetic Counseling to Inform and Educate in Parkinson\'s Disease (IMAGINE-PD) and conducted user testing and usability testing. The objective was to conduct user and usability testing to obtain stakeholder feedback to improve IMAGINE-PD.
METHODS: Genetic counselors and PD and neurogenetics subject matter experts developed content for IMAGINE-PD specifically focused on GBA and LRRK2 genetic testing. Structured interviews were conducted with 11 movement disorder specialists and 13 patients with PD to evaluate the content of IMAGINE-PD in user testing and with 12 patients with PD to evaluate the usability of a high-fidelity prototype according to the US Department of Health and Human Services Research-Based Web Design & Usability Guidelines. Qualitative data analysis informed changes to create a final version of IMAGINE-PD.
RESULTS: Qualitative data were reviewed by 3 evaluators. Themes were identified from feedback data of movement disorder specialists and patients with PD in user testing in 3 areas: content such as the topics covered, function such as website navigation, and appearance such as pictures and colors. Similarly, qualitative analysis of usability testing feedback identified additional themes in these 3 areas. Key points of feedback were determined by consensus among reviewers considering the importance of the comment and the frequency of similar comments. Refinements were made to IMAGINE-PD based on consensus recommendations by evaluators within each theme at both user testing and usability testing phases to create a final version of IMAGINE-PD.
CONCLUSIONS: User testing for content review and usability testing have informed refinements to IMAGINE-PD to develop this focused, genetics education tool for GBA and LRRK2 testing. Comparison of this stakeholder-informed intervention to standard telegenetic counseling approaches is ongoing.
摘要：
背景：遗传检测对于确定参与帕金森病（PD）患者的临床试验至关重要，这些患者携带葡萄糖脑苷脂酶（GBA）或富亮氨酸重复激酶2（LRRK2）基因变异体。受过神经遗传学或遗传咨询培训的专业人员的有限可用性是增加测试的主要障碍。远程医疗解决方案，以增加获得遗传学教育可以帮助解决有关顾问可用性的问题，并为患者和家庭成员提供选择。
目标：作为预测试遗传咨询的替代方案，我们开发了一种基于网络的遗传学教育工具,该工具专注于PD的GBA和LRRK2测试,称为“帕金森病信息和教育遗传咨询交互式多媒体方法”(IMAGINE-PD),并进行了用户测试和可用性测试.目的是进行用户和可用性测试，以获得利益相关者的反馈，以改进IMAGINE-PD。
方法：遗传咨询师和PD和神经遗传学主题专家为IMAGINE-PD开发了专门针对GBA和LRRK2基因检测的内容。根据美国卫生与人类服务部的研究，对11名运动障碍专家和13名PD患者进行了结构化访谈，以评估用户测试中IMAGINE-PD的内容，并对12名PD患者进行了访谈，以评估高保真原型的可用性。基于研究的网页设计和可用性指南。定性数据分析告知更改以创建IMAGINE-PD的最终版本。
结果：由3名评估者审查了定性数据。主题是从运动障碍专家和PD患者在用户测试中的3个方面的反馈数据中确定的：内容，例如所涵盖的主题，网站导航等功能，以及图片和颜色等外观。同样，可用性测试反馈的定性分析确定了这3个领域的其他主题。考虑到评论的重要性和类似评论的频率，审稿人之间达成共识，确定了反馈的关键点。在用户测试和可用性测试阶段，根据评估人员在每个主题内的共识建议，对IMAGINE-PD进行了改进，以创建IMAGINE-PD的最终版本。
结论：内容审查和可用性测试的用户测试已对IMAGINE-PD进行了改进，GBA和LRRK2测试的遗传学教育工具。正在将这种由利益相关者知情的干预措施与标准的远程遗传咨询方法进行比较。
目标：作为预测试遗传咨询的替代方案，我们开发了一种基于网络的遗传学教育工具,该工具专注于PD的GBA和LRRK2测试,称为“帕金森病信息和教育遗传咨询交互式多媒体方法”(IMAGINE-PD),并进行了用户测试和可用性测试.目的是进行用户和可用性测试，以获得利益相关者的反馈，以改进IMAGINE-PD。
方法：遗传咨询师和PD和神经遗传学主题专家为IMAGINE-PD开发了专门针对GBA和LRRK2基因检测的内容。根据美国卫生与人类服务部的研究，对11名运动障碍专家和13名PD患者进行了结构化访谈，以评估用户测试中IMAGINE-PD的内容，并对12名PD患者进行了访谈，以评估高保真原型的可用性。基于研究的网页设计和可用性指南。定性数据分析告知更改以创建IMAGINE-PD的最终版本。
结果：由3名评估者审查了定性数据。主题是从运动障碍专家和PD患者在用户测试中的3个方面的反馈数据中确定的：内容，例如所涵盖的主题，网站导航等功能，以及图片和颜色等外观。同样，可用性测试反馈的定性分析确定了这3个领域的其他主题。考虑到评论的重要性和类似评论的频率，审稿人之间达成共识，确定了反馈的关键点。在用户测试和可用性测试阶段，根据评估人员在每个主题内的共识建议，对IMAGINE-PD进行了改进，以创建IMAGINE-PD的最终版本。
结论：内容审查和可用性测试的用户测试已对IMAGINE-PD进行了改进，GBA和LRRK2测试的遗传学教育工具。正在将这种由利益相关者知情的干预措施与标准的远程遗传咨询方法进行比较。
