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

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.

Genomics in nephrology: identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach

“…While many research studies have examined integration of genetic testing into the management of cancer, 3 , 4 little has been done in other areas such as chronic kidney disease (CKD), which affects 1 in 7 US adults. 5 The diagnosis of CKD may benefit from improved integration of genetic testing as a monogenic cause may affect as many as 10% of patients with CKD.…”

“… 14 Our systematic review highlighted the potential for clinical decision support (CDS) tools to improve the uptake of genetic services and the challenges in effectively implementing them, such as the reliance on alerts and reminders, lack of standards for genomic data integration, and underuse of implementation frameworks. 3 The review also demonstrated genetic CDS tools primarily focus on cancer and pharmacogenomics, indicating a knowledge gap in applying genotype and family history data for other specialties, such as nephrology. Scant attention has been paid to clinician needs and workflow, which has led to low adoption of genetic diagnosis.…”