Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Apr 19;31(5):1183-1194.
doi: 10.1093/jamia/ocae033.

Genetically guided precision medicine clinical decision support tools: a systematic review

Darren Johnson  1 , Guilherme Del Fiol  2 , Kensaku Kawamoto  2 , Katrina M Romagnoli  1 , Nathan Sanders  3 , Grace Isaacson  4 , Elden Jenkins  5 , Marc S Williams  1
Affiliations

Genetically guided precision medicine clinical decision support tools: a systematic review

Darren Johnson et al. J Am Med Inform Assoc. .

Abstract

Objectives: Patient care using genetics presents complex challenges. Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or recommendations at the point of care. This systematic review evaluated the literature on CDS systems which have been implemented to support genetically guided precision medicine (GPM).

Materials and methods: A comprehensive search was conducted in MEDLINE and Embase, encompassing January 1, 2011-March 14, 2023. The review included primary English peer-reviewed research articles studying humans, focused on the use of computers to guide clinical decision-making and delivering genetically guided, patient-specific assessments, and/or recommendations to healthcare providers and/or patients.

Results: The search yielded 3832 unique articles. After screening, 41 articles were identified that met the inclusion criteria. Alerts and reminders were the most common form of CDS used. About 27 systems were integrated with the electronic health record; 2 of those used standards-based approaches for genomic data transfer. Three studies used a framework to analyze the implementation strategy.

Discussion: Findings include limited use of standards-based approaches for genomic data transfer, system evaluations that do not employ formal frameworks, and inconsistencies in the methodologies used to assess genetic CDS systems and their impact on patient outcomes.

Conclusion: We recommend that future research on CDS system implementation for genetically GPM should focus on implementing more CDS systems, utilization of standards-based approaches, user-centered design, exploration of alternative forms of CDS interventions, and use of formal frameworks to systematically evaluate genetic CDS systems and their effects on patient care.

Keywords: clinical decision support systems; electronic health record; genetics; genomics; personalized medicine.

PubMed Disclaimer

Conflict of interest statement

None declared.

Figures

Figure 1.
Figure 1.
PRISMA diagram.
Figure 2.
Figure 2.
GMXIII recommendations, systematic review mapping results to recommendations.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Global Genes. Rare facts 2019 (updated March 14). Accessed March 14, 2022. https://globalgenes.org/rare-facts/.
    1. Baird PA, Anderson TW, Newcombe HB, Lowry RB.. Genetic disorders in children and young adults: a population study. Am J Hum Genet. 1988;42(5):677-693. - PMC - PubMed
    1. Boycott KM, Lau LP, Cutillo CM, Austin CP.. International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases. EMBO Mol Med. 2019;11(5):e10486. 10.15252/emmm.201910486 - DOI - PMC - PubMed
    1. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE.. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet. 2013;14(10):681-691. 10.1038/nrg3555 - DOI - PubMed
    1. Verma IC, Puri RD.. Global burden of genetic disease and the role of genetic screening. Semin Fetal Neonatal Med. 2015;20(5):354-363. 10.1016/j.siny.2015.07.002 - DOI - PubMed

Publication types