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

Area of Science:

• Genetics and Genomics
• Health Informatics
• Clinical Decision Support Systems

Background:

• Genetically guided precision medicine (GPM) offers personalized patient care but faces implementation challenges.
• Clinical decision support (CDS) tools can address these challenges by providing point-of-care, patient-specific genetic risk assessments and recommendations.

Approach:

• A systematic review of MEDLINE and Embase databases (2011-2023) identified 41 studies on CDS systems for GPM.
• Included studies focused on computer-guided clinical decision-making using genetic information for patient-specific assessments.

Key Points:

• Alerts and reminders were the most common CDS intervention.
• Most CDS systems (27/41) integrated with electronic health records, but only two used standards-based genomic data transfer.
• Few studies utilized formal frameworks for implementation analysis or outcome assessment.

Conclusions:

• Limited adoption of standards-based approaches and inconsistent evaluation methodologies impede the effectiveness of genetic CDS systems.
• Future research should prioritize standards-based approaches, user-centered design, diverse CDS interventions, and formal evaluation frameworks for GPM.