Barriers and facilitators of implementing integrated genomic risk assessment - a qualitative case study in an...

The Electronic Medical Record and Genomics Network (eMERGE) is studying clinical implementation of a genome-informed risk assessment (GIRA) that include polygenic risk scores. Understanding facilitators and barriers to implementing GIRA can inform genomic medicine research practices and future delivery of similar interventions.

We conducted multiple rounds of key informant interviews with study personnel from a large health system participating in eMERGE. Interviews included questions on barriers and facilitators to implementing GIRA both within the eMERGE study and, ultimately, routine care. We used deductive coding guided by the Consolidated Framework for Implementation Research and thematic analysis.

We conducted 25 interviews with 15 unique informants in 3 rounds. Key barriers to GIRA implementation included evidence uncertainty, complex informational needs, and health system hesitancy to adopt non-guideline recommended interventions, which were mitigated by engaging with clinical stakeholders and demonstrating GIRA's value. Some identified barriers were driven by the need to accomplish research aims (e.g., recruitment) and were addressed by improving study workflows.

Support for GIRA implementation depends on evidence base, guideline recommendation, and leadership buy-in. Strategies are needed to address the ongoing gap between genomic medicine's evidence generation needs and health system's reluctance to deviate from standard of care.