Handra Julia, Guimond Colleen, Jordan Isabel, Lenahan Brenda, Ohs Kelsey, Beauchesne Rhea, Adam Shelin, Friedman Jan M, Birch Patricia
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, C201 - 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
BC Children's Hospital Research Institute, 938 W 28th Ave, Vancouver, BC V5Z 4H4, Canada.
PEC Innov. 2022 Apr 16;1:100039. doi: 10.1016/j.pecinn.2022.100039. eCollection 2022 Dec.
To develop and evaluate a personalizable genomic results e-booklet that helps families understand their genomic testing results and navigate available resources.
The need for the Genomics Results e-Booklet was identified by families, after which this tool was developed by a team of clinical researchers and three parent-advisors. We customized the genomic results e-booklet for 50 families participating in a genomic sequencing research study. We conducted an assessment using a 19-question survey and semi-structured interviews to elicit feedback and iteratively improve the tool.
25 users provided feedback via questionnaires and seven respondents were interviewed. Genomic Results e-Booklet recipients responded favorably: 96% of participants stated that it helped them remember information shared during their results appointment, 80% said it had or would help them communicate their results with other healthcare providers, 68% felt that it helped to identify and guide their next steps, and 72% anticipated that the e-booklet would have future utility.
The Genomic Results e-Booklet is a patient and family-oriented resource that complements post-test genetic counselling.
Compared to traditional laboratory reports and clinical letters, the Genomics Results e-Booklet is patient-conceived and patient-centered, and allows clinicians to efficiently personalize content and prioritize patient understanding and support.
开发并评估一种可个性化定制的基因组检测结果电子书，以帮助家庭理解其基因组检测结果并了解可用资源。
家庭提出了对基因组检测结果电子书的需求，之后由一组临床研究人员和三名家长顾问开发了该工具。我们为参与基因组测序研究的50个家庭定制了基因组检测结果电子书。我们通过一项包含19个问题的调查和半结构化访谈进行评估，以获取反馈并迭代改进该工具。
25名用户通过问卷提供了反馈，7名受访者接受了访谈。基因组检测结果电子书的接收者反馈良好：96%的参与者表示它帮助他们记住了在结果告知预约期间分享的信息，80%的人表示它已经或将会帮助他们与其他医疗服务提供者交流检测结果，68%的人认为它有助于确定并指导他们的下一步行动，72%的人预计该电子书未来会有用。
基因组检测结果电子书是一种以患者和家庭为导向的资源，可作为检测后遗传咨询的补充。
与传统实验室报告和临床信函相比，基因组检测结果电子书由患者构思并以患者为中心，使临床医生能够高效地个性化内容，并将患者的理解和支持作为优先事项。
