ArticleJournal of the American Medical Informatics Association : JAMIA2019
Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.
Article in Journal of the American Medical Informatics Association : JAMIA, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Human Factors and Organizational Issues.Yearbook of medical informatics · 2020Review
- The "industrial" revolution in biomedical research: Data explosion and reproducibility crisis drive changes in lab workflows.EMBO reports · 2020Article
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
Objective: The clinical diagnosis of genetic disorders is undergoing transformation, driven by whole exome sequencing and whole genome sequencing (WES/WGS). However, such nucleotide-level resolution technologies create an interpretive challenge. Prior literature suggests that clinicians may employ characteristic cognitive processes during WES/WGS investigations to identify disruptions in genes causal for the observed disease. Based on cognitive ergonomics, we designed and evaluated a gene prioritization workflow that supported these cognitive processes. Materials and Methods: We designed a novel workflow in which clinicians recalled known genetic diseases with similarity to patient phenotypes to inform WES/WGS data interpretation. This prototype-based workflow was evaluated against the common computational approach based on physician-specified sets of individual patient phenotypes. The evaluation was conducted as a web-based user study, in which 18 clinicians analyzed 2 simulated patient scenarios using a randomly assigned workflow. Data analysis compared the 2 workflows with respect to accuracy and efficiency in diagnostic interpretation, efficacy in collecting detailed phenotypic information, and user satisfaction. Results: Participants interpreted genetic diagnoses faster using prototype-based workflows. The 2 workflows did not differ in other evaluated aspects. Discussion: The user study findings indicate that prototype-based approaches, which are designed to model experts' cognitive processes, can expedite gene prioritization and provide utility in synergy with common phenotype-driven variant/gene prioritization approaches. However, further research of the extent of this effect across diverse genetic diseases is required. Conclusion: The findings demonstrate potential for prototype-based phenotype description to accelerate computer-assisted variant/gene prioritization through complementation of skills and knowledge of clinical experts via human-computer interaction.
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Registered trials
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