Department of Biomedical Informatics and Medical Education, School of Medicine, University of Washington, Seattle, WA, USA.
Institute of Translational Health Sciences, University of Washington, Seattle, WA, USA.
BMC Med Genomics. 2021 Jan 6;14(1):10. doi: 10.1186/s12920-020-00864-0.
Genetic testing allows patients and clinicians to understand the risk of hereditary diseases. By testing early, individuals can make informed medical decisions about management which may minimize the risk of developing certain diseases. Importantly, genetic test results may also be applicable to patients' biological relatives; thus, these results could also lead to minimizing their risk of disease. However, sharing genetic test results between patients and their relatives is scarce. The most frequently reported problems are that patients cannot clearly explain this information and relatives misinterpret the results. Smartphone apps in the healthcare field are a possible solution as they allow patients to accurately share sensitive information to others, while providing educational material to support understanding the information. However, these apps may not provide security to protect patients' identifiable information. We developed ShareDNA, a smartphone app that (1) allows patients to securely share their genetic test results with others, (2) provides information on how to interpret these results, and (3) minimizes the amount of patient information needed to use the service.
We recruited thirteen participants to test the usability of our app and provide feedback. We found overall that participants were comfortable with using this app and could easily learn each app function when filling out our questionnaire. Additionally, based on vocalized impressions of the usefulness of the app, participants indicated that the user-interface could be more intuitive and that we needed to add more text within the app to explain why ShareDNA is a secure service.
ShareDNA is a free smartphone app that allows patients to share their genetic test results with others, including their biological relatives. Sharing these results along with educational material will enable relatives to share accurate information and discuss their possible risk for disease with their clinical providers. As a result, appropriate testing in relatives could be improved.
基因检测使患者和临床医生能够了解遗传性疾病的风险。通过早期检测，个人可以就管理做出明智的医疗决策，从而最大限度地降低某些疾病的发病风险。重要的是，基因检测结果也可能适用于患者的生物学亲属；因此，这些结果也可以降低他们患病的风险。然而，患者与其亲属之间共享基因检测结果的情况很少见。最常报告的问题是，患者无法清楚地解释这些信息，亲属也会误解检测结果。医疗保健领域的智能手机应用程序可能是一个解决方案，因为它们允许患者准确地将敏感信息共享给其他人，同时提供教育材料以支持对信息的理解。然而，这些应用程序可能无法提供安全性来保护患者的可识别信息。我们开发了 ShareDNA，这是一款智能手机应用程序，（1）允许患者安全地与他人共享他们的基因检测结果，（2）提供有关如何解释这些结果的信息，（3）最大限度地减少使用该服务所需的患者信息量。
我们招募了 13 名参与者来测试我们应用程序的可用性并提供反馈。我们发现，总体而言，参与者使用这款应用程序感到舒适，并且在填写我们的问卷时可以轻松学习每个应用程序功能。此外，根据对应用程序有用性的口头印象，参与者表示用户界面可以更直观，并且我们需要在应用程序中添加更多文本，以解释为什么 ShareDNA 是一个安全的服务。
ShareDNA 是一款免费的智能手机应用程序，允许患者与他人（包括其生物学亲属）共享他们的基因检测结果。共享这些结果和教育材料将使亲属能够共享准确的信息，并与他们的临床医生讨论他们可能面临的疾病风险。因此，可以改善亲属的适当检测。
