Effect of genetics clinical decision support tools on health-care providers’ decision making: a mixed-methods systematic review



Patient care involving genetics is challenging for nongenetics health-care providers. Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or management recommendations. This systematic review synthesized evidence on whether using CDS tools resulted in appropriate changes in genetics-related patient management made by nongenetics health-care providers.


A comprehensive search in MEDLINE, Embase, and CINAHL yielded 2,239 unique articles. Two independent reviewers screened abstracts and full texts for quantitative, qualitative, and mixed-methods articles on management changes by nongenetics clinicians using a CDS tool as part of patient care. Effect sizes were calculated for quantitative studies and all articles were analyzed together using narrative synthesis. Twenty articles were included.


In 12/16 quantitative studies, CDS tools slightly increased appropriate changes in management, but study design appeared to affect the statistical significance of the effect. The qualitative data in the four remaining studies reaffirmed that CDS tools facilitated management decisions but raised questions about their effect on patient outcomes.


Our review assessed clinical utility of CDS tools, finding that they slightly increase appropriate management changes by nongenetics providers. Future studies on CDS tools should explicitly evaluate decision making and patient outcomes.

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Fig. 1: PRISMA flowchart.

Data availability

Data relevant to this systematic review is available upon request.


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This project is partially funded by an Early Career Award from the Ontario Ministry of Research and Innovation (ER17-13-045). A.S. was supported by an Ontario Graduate Scholarship from the University of Toronto. Y.B. was supported by a New Investigator Award from the Canadian Institutes of Health Research (CIHR). We thank Andrea Tricco, Lusine Abrahamyan, and Petros Pechlivanoglou for their advice and feedback over the course of this study.

Author information




Conceptualization: A.S., Y.B., J.C.C. Formal analysis: A.S., Y.B., J.C.C. Funding acquisition: Y.B., A.S. Investigation: A.S., E.U., L.E.O., C.M., S.S. Methodology: A.S., Y.B., J.C.C. Project administration: A.S., Y.B., J.C.C. Supervision: Y.B., J.C.C. Visualization: A.S. Writing—original draft: A.S., Y.B., J.C.C. Writing—review & editing: A.S., Y.B., J.C.C., E.U., L.E.O., C.M., S.S.

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Correspondence to Yvonne Bombard PhD.

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Sebastian, A., Carroll, J.C., Oldfield, L.E. et al. Effect of genetics clinical decision support tools on health-care providers’ decision making: a mixed-methods systematic review. Genet Med (2021). https://doi.org/10.1038/s41436-020-01045-1

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