Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA; The Broad Institute of MIT and Cambridge, Cambridge, MA.
Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA.
Genet Med. 2023 Dec;25(12):100946. doi: 10.1016/j.gim.2023.100946. Epub 2023 Jul 30.
Although preconception reproductive genetic carrier screening (RGCS) is preferred to screening during pregnancy, population-wide preconception screening is not routinely performed in the United States. We explored the multilevel barriers to the widespread adoption of preconception RGCS in the United States via key informant interviews.
Semi-structured virtual video interviews were conducted with 29 informants with a breadth of professional expertise between May and October 2022. Data collection and qualitative analyses were guided by the Consolidated Framework for Implementation Research and socioecological model. Analysis focused on identifying barriers to delivering preconception RGCS at and across different levels of health care and exploring potential facilitators of preconception RGCS delivery.
Barriers to preconception RGCS were identified at the levels of test characteristics, patients and couples, clinicians and care teams, and the external health care and policy environments. Across the different levels of care delivery, 3 themes of barriers emerged: (1) fragmentation and inconsistencies hinder care delivery, (2) gaps in knowledge, misconceptions, and uncertainties about RGCS are pervasive, and (3) expanding preconception RGCS in the diverse US population presents unique implementation challenges. Potential solutions were detailed by informants.
Identifying individual and thematic barriers to preconception RGCS delivery may help to define strategies to alleviate obstacles.
尽管孕前生殖遗传携带者筛查（RGCS）优于孕期筛查，但美国并未常规开展人群孕前筛查。我们通过关键知情人访谈，探讨了美国广泛采用孕前 RGCS 的多层次障碍。
2022 年 5 月至 10 月期间，我们对 29 名具有广泛专业知识的知情人进行了半结构式虚拟视频访谈。数据收集和定性分析以实施研究综合框架和社会生态模型为指导。分析重点是确定在医疗保健的不同层面提供孕前 RGCS 的障碍，并探讨提供孕前 RGCS 的潜在促进因素。
在测试特征、患者和夫妇、临床医生和护理团队以及外部医疗保健和政策环境等层面，均发现了孕前 RGCS 的障碍。在不同的医疗保健层面，出现了 3 个主题的障碍：（1）碎片化和不一致性阻碍了护理的提供；（2）对 RGCS 的知识、误解和不确定性普遍存在；（3）在多样化的美国人群中扩大孕前 RGCS 面临独特的实施挑战。知情人详细介绍了潜在的解决方案。
确定孕前 RGCS 提供的个体和主题障碍，可能有助于确定缓解障碍的策略。
