Title:	DESIGN OF A REFERENCE HANDLING SYSTEM FOR CLINICAL DNA SEQUENCING ANALYSIS
Author(s):	Jorun Børsting, Alma L. Culén, Morten C. Eike
ISBN:	978-989-8533-42-5
Editors:	Mário Macedo, Claire Gauzente, Miguel Baptista Nunes and Guo Chao Peng
Year:	2015
Edition:	Single
Keywords:	Usability, complex systems design, genetic sequencing, user-centered design, user participation, reference handling.
Type:	Full Paper
First Page:	79
Last Page:	87
Language:	English
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Full Contents:	click to dowload
Paper Abstract:	This paper is concerned with the design of a system that handles references related to clinical DNA sequencing and analysis of genetic variants. The reference handling system is part of a large system, currently under development at the Department of Medical Genetics at Oslo University Hospital, inquiring into procedures and supportive bioinformatics tools for analysis of genetic data. Finding and evaluating relevant literature that reports on classifications of genetic variants is of high importance. In many cases, it is a requirement to compare local findings with those published in high-quality external references. This process further ensures that the correct decision on the nature of the variant is reached. The implications of the decision are relevant for both patients and knowledge production and its transferability to new patients. A user-centered design was chosen as a research approach, with user participation in both qualitative (walk-troughs, interviews and talk-aloud evaluations) and quantitative (questionnaire) inquiries. Users involvement in design and evaluation of the reference handling prototype was important for identifying diverse usability problems and design issues, which could then be improved in later iterations of the prototype. Users have also contributed to defining more general guidelines for the re-design of later versions, e.g., a need for customization, as users often have different strategies for working with references. Another problem brought forth by users had to do with handling of options when assessments were uncertain, including ways to convey that uncertainty to the next analyst working with the same references. Users involvement in design and evaluation processes, such as described in this paper, leads to system design that is more in tune with users’ needs, also making the adoption of the system easier. Furthermore, it improves efficiency and quality of the analysis.
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