Shyr Casper, Kushniruk Andre, Wasserman Wyeth W
Centre for Molecular Medicine and Therapeutics, Child & Family Research Institute, 950 28th Ave W, Vancouver, BC V5Z 4H4, Canada; Bioinformatics Graduate Program, University of British Columbia, 2329 West Mall, Vancouver, BC V6T 1Z4, Canada.
School of Health Information Science, University of Victoria, 3800 Finnerty Rd., Victoria, BC V8P 5C2, Canada.
J Biomed Inform. 2014 Oct;51:129-36. doi: 10.1016/j.jbi.2014.05.004. Epub 2014 May 24.
New DNA sequencing technologies have revolutionized the search for genetic disruptions. Targeted sequencing of all protein coding regions of the genome, called exome analysis, is actively used in research-oriented genetics clinics, with the transition to exomes as a standard procedure underway. This transition is challenging; identification of potentially causal mutation(s) amongst ∼10(6) variants requires specialized computation in combination with expert assessment. This study analyzes the usability of user interfaces for clinical exome analysis software. There are two study objectives: (1) To ascertain the key features of successful user interfaces for clinical exome analysis software based on the perspective of expert clinical geneticists, (2) To assess user-system interactions in order to reveal strengths and weaknesses of existing software, inform future design, and accelerate the clinical uptake of exome analysis.
Surveys, interviews, and cognitive task analysis were performed for the assessment of two next-generation exome sequence analysis software packages. The subjects included ten clinical geneticists who interacted with the software packages using the "think aloud" method. Subjects' interactions with the software were recorded in their clinical office within an urban research and teaching hospital. All major user interface events (from the user interactions with the packages) were time-stamped and annotated with coding categories to identify usability issues in order to characterize desired features and deficiencies in the user experience.
We detected 193 usability issues, the majority of which concern interface layout and navigation, and the resolution of reports. Our study highlights gaps in specific software features typical within exome analysis. The clinicians perform best when the flow of the system is structured into well-defined yet customizable layers for incorporation within the clinical workflow. The results highlight opportunities to dramatically accelerate clinician analysis and interpretation of patient genomic data.
We present the first application of usability methods to evaluate software interfaces in the context of exome analysis. Our results highlight how the study of user responses can lead to identification of usability issues and challenges and reveal software reengineering opportunities for improving clinical next-generation sequencing analysis. While the evaluation focused on two distinctive software tools, the results are general and should inform active and future software development for genome analysis software. As large-scale genome analysis becomes increasingly common in healthcare, it is critical that efficient and effective software interfaces are provided to accelerate clinical adoption of the technology. Implications for improved design of such applications are discussed.
新的DNA测序技术彻底改变了对基因破坏的搜索。对基因组所有蛋白质编码区域进行靶向测序，即外显子组分析，在以研究为导向的遗传学诊所中得到了积极应用，并且正在向将外显子组分析作为标准程序过渡。这种过渡具有挑战性；在约10^6个变异中识别潜在的致病突变需要结合专家评估的专门计算。本研究分析了临床外显子组分析软件用户界面的可用性。有两个研究目标：（1）从临床遗传专家的角度确定临床外显子组分析软件成功用户界面的关键特征，（2）评估用户与系统的交互，以揭示现有软件的优缺点，为未来设计提供信息，并加速外显子组分析在临床中的应用。
对两个下一代外显子组序列分析软件包进行了调查、访谈和认知任务分析。受试者包括十名临床遗传学家，他们使用“出声思考”方法与软件包进行交互。受试者在城市研究和教学医院的临床办公室内与软件的交互被记录下来。所有主要的用户界面事件（来自用户与软件包的交互）都被加上时间戳并用编码类别进行注释，以识别可用性问题，从而确定用户体验中的期望特征和不足之处。
我们检测到193个可用性问题，其中大多数涉及界面布局和导航以及报告的解析。我们的数据突出了外显子组分析中典型的特定软件功能方面的差距。当系统流程被构建成定义明确但可定制的层次以便纳入临床工作流程时，临床医生的表现最佳。结果突出了大幅加速临床医生对患者基因组数据的分析和解读的机会。
我们首次应用可用性方法在临床外显子组分析的背景下评估软件界面。我们的结果突出了研究用户反应如何能够导致识别可用性问题和挑战，并揭示软件重新设计的机会以改进临床下一代测序分析。虽然评估集中在两个不同的软件工具上，但结果具有普遍性，应该为基因组分析软件的当前和未来软件开发提供参考。随着大规模基因组分析在医疗保健中变得越来越普遍，提供高效有效的软件界面以加速该技术在临床中的应用至关重要。讨论了对此类应用改进设计的影响。
