Usability study of clinical exome analysis software: Top lessons learned and recommendations

Shyr, Casper; Kushniruk, André; Wasserman, Wyeth W.

doi:10.1016/j.jbi.2014.05.004

Cited by 15 publications

(9 citation statements)

References 40 publications

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“…Focus group participants reported a desire for information to support more in depth understanding of GS results. Addressing this desire would need to be considered with care given findings from others that using too much bioinformatics or genetics jargon causes confusion [21]. In addition, while actual navigation of the GMA software interface could not be tested during our task walkthroughs, participants still proposed several areas to improve (Table 5).…”

Section: Discussionmentioning

confidence: 99%

“…Other studies have used similar task-centered approaches to investigate the usability of genetic data interpretation software. For example, Shyr et al administered surveys, conducted interviews and performed cognitive task analyses to assess the usability of a clinical exome analysis software [21]. In another study a think-aloud, graded-task protocol was used to evaluate the GeneInsight Suite.…”

Section: Introductionmentioning

confidence: 99%

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User-centered design of multi-gene sequencing panel reports for clinicians

Cutting

Banchero

Beitelshees

et al. 2016

Journal of Biomedical Informatics

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The objective of this study was to develop a high-fidelity prototype for delivering multi-gene sequencing panel (GS) reports to clinicians that simulates the user experience of a final application. The delivery and use of GS reports can occur within complex and high-paced healthcare environments. We employ a user-centered software design approach in a focus group setting in order to facilitate gathering rich contextual information from a diverse group of stakeholders potentially impacted by the delivery of GS reports relevant to two precision medicine programs at the University of Maryland Medical Center. Responses from focus group sessions were transcribed, coded and analyzed by two team members. Notification mechanisms and information resources preferred by participants from our first phase of focus groups were incorporated into scenarios and the design of a software prototype for delivering GS reports. The goal of our second phase of focus group, to gain input on the prototype software design, was accomplished through conducting task walkthroughs with GS reporting scenarios. Preferences for notification, content and consultation from genetics specialists appeared to depend upon familiarity with scenarios for ordering and delivering GS reports. Despite familiarity with some aspects of the scenarios we proposed, many of our participants agreed that they would likely seek consultation from a genetics specialist after viewing the test reports. In addition, participants offered design and content recommendations. Findings illustrated a need to support customized notification approaches, user-specific information, and access to genetics specialists with GS reports. These design principles can be incorporated into software applications that deliver GS reports. Our user-centered approach to conduct this assessment and the specific input we received from clinicians may also be relevant to others working on similar projects.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

User-centered design of multi-gene sequencing panel reports for clinicians

Cutting

Banchero

Beitelshees

et al. 2016

Journal of Biomedical Informatics

View full text Add to dashboard Cite

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“… 17 , 18 In a previous study of a cohort of clinical geneticists, we evaluated the usability of exome analysis software based on think-aloud protocols in a study where participants were presented with simulated clinical cases to analyze. 19 While our results highlighted deficiencies of the software for clinical geneticists, such users rarely work in isolation. An interdisciplinary team comprising of informaticians, clinical/biochemical geneticists, subspecialist pediatricians, laboratory scientists, and genetic counselors are often involved.…”

Section: Introductionmentioning

confidence: 73%

“…22 , 23 A set of initial codes was formulated based on the research questions and prior studies. 19 , 24–26 Additional emergent themes and codes were identified from the data using an inductive approach. 27–29 The whiteboard drawings were analyzed from the video footages, and were digitally translated using GUI Design Studio Version 4.6.…”

Section: Methodsmentioning

confidence: 99%

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

Shyr

Kushniruk

Wasserman

2015

Journal of the American Medical Informatics Association

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Background The transition of whole-exome and whole-genome sequencing (WES/WGS) from the research setting to routine clinical practice remains challenging.Objectives With almost no previous research specifically assessing interface designs and functionalities of WES and WGS software tools, the authors set out to ascertain perspectives from healthcare professionals in distinct domains on optimal clinical genomics user interfaces.Methods A series of semi-scripted focus groups, structured around professional challenges encountered in clinical WES and WGS, were conducted with bioinformaticians (n = 8), clinical geneticists (n = 9), genetic counselors (n = 5), and general physicians (n = 4).Results Contrary to popular existing system designs, bioinformaticians preferred command line over graphical user interfaces for better software compatibility and customization flexibility. Clinical geneticists and genetic counselors desired an overarching interactive graphical layout to prioritize candidate variants—a “tiered” system where only functionalities relevant to the user domain are made accessible. They favored a system capable of retrieving consistent representations of external genetic information from third-party sources. To streamline collaboration and patient exchanges, the authors identified user requirements toward an automated reporting system capable of summarizing key evidence-based clinical findings among the vast array of technical details.Conclusions Successful adoption of a clinical WES/WGS system is heavily dependent on its ability to address the diverse necessities and predilections among specialists in distinct healthcare domains. Tailored software interfaces suitable for each group is likely more appropriate than the current popular “one size fits all” generic framework. This study provides interfaces for future intervention studies and software engineering opportunities.

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“…Complex studies involving physicists, chemists, mathematicians, engineers, biologists are required for mathematical representation of complex biological processes and minimization of clinical tests. Long-term systematic search for simple, convenient, universal software with a set of functions ranging from knowledge extraction to decision-making leads to no success [32,143]. Existing computer systems for risk assessment fail to record 50-96% of critical situations [99].…”

Section: Introductionmentioning

confidence: 99%

Information Technology in Health Care: Information Retrieval, Processing, and Protection (Review)

Кузнецов¹,

Mukhin²,

Simutis³

et al. 2018

Sovrem Tehnol Med

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Hacker attacks on information resources in clinics of the UK, Belgium, Lithuania, clinical and biochemical laboratories in Russia and Belarus in 2017 as well as the refusal of 199 German hospital managers to use modern computer information technologies in 2016 gave an impetus to investigate the issue of computerization in health-care facilities. The need for using computer information technology is unchallengeable, though its current use in clinical practice is associated with a number of problems. Besides, the amount of clinical data is increasing, while some information remains unanalyzed posing risks of fatal errors. This review describes the problems of computer technology implementation, use, and protection. To make computer technology work effectively in the health care system, we have to deal with the following problems: architecture compatibility, perception and interpretation of handwritten text, interpretation of medical terms, text formalization and standardization, creation of electronic medical notes, development of electronic medical records and databases, personalization and protection of information.

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Usability study of clinical exome analysis software: Top lessons learned and recommendations

Cited by 15 publications

References 40 publications

User-centered design of multi-gene sequencing panel reports for clinicians

User-centered design of multi-gene sequencing panel reports for clinicians

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

Information Technology in Health Care: Information Retrieval, Processing, and Protection (Review)

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