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

Author:

Johnson Darren1,Del Fiol Guilherme2ORCID,Kawamoto Kensaku2ORCID,Romagnoli Katrina M1,Sanders Nathan3,Isaacson Grace4,Jenkins Elden5,Williams Marc S1

Affiliation:

1. Department of Genomic Health, Geisinger Health Systems , Danville, PA 17822, United States

2. Department of Biomedical Informatics, University of Utah , Salt Lake City, UT 84108, United States

3. School of Medicine, Geisinger Health Systems , Danville, PA 17822, United States

4. Family Medicine, Penn Highlands Healthcare , DuBois, PA 16830, United States

5. School of Medicine, Noorda College of Osteopathic Medicine , Provo, UT 84606, United States

Abstract

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.

Funder

National Institute of Health

National Human Genome Research Institute

Publisher

Oxford University Press (OUP)

Reference79 articles.

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2. International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases;Boycott;EMBO Mol Med,2019

3. Rare-disease genetics in the era of next-generation sequencing: discovery to translation;Boycott;Nat Rev Genet,2013

4. Global burden of genetic disease and the role of genetic screening;Verma;Semin Fetal Neonatal Med,2015

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