Agatisa Patricia K, Mercer Mary Beth, Mitchum Ariane, Coleridge Marissa B, Farrell Ruth M
Department of Bioethics, Cleveland Clinic, Cleveland, OH, USA.
Obstetrics, Gynecology and Women's Health Institute, Cleveland, OH, USA.
J Patient Exp. 2018 Mar;5(1):26-33. doi: 10.1177/2374373517720482. Epub 2017 Aug 30.
The clinical introduction of innovative prenatal genetic technologies challenges patients and providers to find new ways of fostering informed decision-making in a setting characterized by complexity and uncertainty. As prenatal genetic technology advances, important questions remain about how to structure patient-centered conversations that effectively prepare pregnant patients to make informed choices about the different genetic conditions for which this new form screening may be used.
Focus groups were conducted with 23 pregnant women to identify informational needs and decision-making preferences regarding emerging and anticipated applications of cell-free fetal DNA screening, the newest form of prenatal genetic screening.
Participants were in favor of obtaining more genetic information about the fetus than provided by conventional screens but acknowledged the challenges inherent in navigating the unique complexities of the decision-making process. The provider-patient relationship was seen as an important resource to navigate the associated uncertainties at each stage of the screening process. Participants emphasized the need for initiatives to support a personalized, accurate, and unbiased discussion about prenatal genetic risk and assessment.
Continued advances in prenatal genetic screening call for new approaches to structure patient-centered communication to facilitate increasingly complex decisions about fetal genetic risk and assessment.
创新产前基因技术的临床应用向患者和医疗服务提供者提出了挑战，要求他们在一个复杂且不确定的环境中寻找促进明智决策的新方法。随着产前基因技术的进步，关于如何构建以患者为中心的对话，从而有效地帮助孕妇就这种新形式筛查可能适用的不同基因状况做出明智选择，仍然存在重要问题。
对23名孕妇进行了焦点小组访谈，以确定她们对于游离胎儿DNA筛查（最新形式的产前基因筛查）的新兴及预期应用的信息需求和决策偏好。
参与者赞成获取比传统筛查更多的胎儿基因信息，但也承认在应对决策过程独特的复杂性时存在固有挑战。医患关系被视为在筛查过程的每个阶段应对相关不确定性的重要资源。参与者强调需要采取举措，以支持就产前基因风险和评估进行个性化、准确且无偏见的讨论。
产前基因筛查的持续进步要求采用新方法来构建以患者为中心的沟通，以促进就胎儿基因风险和评估做出日益复杂的决策。
