Allen Caitlin G, Judge Daniel P, Levin Elissa, Sterba Katherine, Hunt Kelly, Ramos Paula S, Melvin Cathy, Wager Karen, Catchpole Kenneth, Clinton Catherine, Ford Marvella, McMahon Lori L, Lenert Leslie
Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC, USA.
Division of Cardiology, Medical University of South Carolina, Charleston, SC, USA.
Implement Sci Commun. 2022 Apr 28;3(1):48. doi: 10.1186/s43058-022-00286-2.
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.
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.
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.
2021年，南卡罗来纳医科大学（MUSC）与一家群体基因检测公司Helix合作，为南卡罗来纳州的10万人提供针对美国疾病控制与预防中心一级遗传性乳腺癌和卵巢癌、林奇综合征及家族性高胆固醇血症的全人群基因组筛查。我们制定了一项实施科学方案，以研究影响“我们的DNA南卡罗来纳”计划成功实施的多层次因素。
我们将采用收敛平行混合方法研究设计，以评估“我们的DNA南卡罗来纳”计划中计划策略的实施情况及相关结果。目标重点在于监测参与情况以确保不同人群的参与度，评估影响社区和临床环境中实施情况的背景因素，描述实施团队的促进因素和障碍，并跟踪项目调整情况。我们报告了每种数据收集工具及计划分析的详细信息，包括调查问卷、访谈指南以及用于记录和编码工作组会议、调整情况及技术援助需求的跟踪日志。
“我们的DNA南卡罗来纳”计划的目标是提供针对可采取行动的遗传疾病的人群层面筛查，并促进正在进行的转化研究。实施科学的运用有助于更好地理解如何支持“我们的DNA南卡罗来纳”计划的成功实施，识别项目实施的障碍和促进因素，并确保人群层面基因检测的可持续性。我们实施科学方案中基于模型的组成部分可支持确定最佳实践，以简化其他机构类似人群基因组计划的扩展。
