A pragmatic implementation research study for In Our DNA SC: a protocol to identify multi-level factors that support the implementation of a population-wide genomic screening initiative in diverse populations

Implement Sci Commun. 2022 Apr 28;3(1):48. doi: 10.1186/s43058-022-00286-2.


Background: In 2021, the Medical University of South Carolina (MUSC) partnered with Helix, a population genetic testing company, to offer population-wide genomic screening for Centers for Disease Control and Preventions' Tier 1 conditions of hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia to 100,000 individuals in South Carolina. We developed an implementation science protocol to study the multi-level factors that influence the successful implementation of the In Our DNA SC initiative.

Methods: We will use a convergent parallel mixed-methods study design to evaluate the implementation of planned strategies and associated outcomes for In Our DNA SC. Aims focus on monitoring participation to ensure engagement of diverse populations, assessing contextual factors that influence implementation in community and clinical settings, describing the implementation team's facilitators and barriers, and tracking program adaptations. We report details about each data collection tool and analyses planned, including surveys, interview guides, and tracking logs to capture and code work group meetings, adaptations, and technical assistance needs.

Discussion: The goal of In Our DNA SC is to provide population-level screening for actionable genetic conditions and to foster ongoing translational research. The use of implementation science can help better understand how to support the success of In Our DNA SC, identify barriers and facilitators to program implementation, and can ensure the sustainability of population-level genetic testing. The model-based components of our implementation science protocol can support the identification of best practices to streamline the expansion of similar population genomics programs at other institutions.

Keywords: Health services research; Implementation science; Population-based genomic screening.