Isaacs Alexandra E, Mladucky Janessa K, Dent Karin M, Wallace Lauren A
Graduate Program in Genetic Counseling, University of Utah, Salt Lake City, Utah, USA.
Intermountain Healthcare, Intermountain Precision Genomics, Murray, Utah, USA.
J Genet Couns. 2022 Dec;31(6):1317-1329. doi: 10.1002/jgc4.1606. Epub 2022 Jul 6.
Decision-making regarding prenatal screening and diagnostic testing has become more complex as the number of options has increased, with pregnant patients having access to more information about their pregnancies than ever before. Genetic counselors have extensive training in prenatal genetic screening and testing options, but personal decision-making in this well-informed population remains largely unstudied. This study describes the prenatal testing decisions genetic counselors made during their own pregnancies, and the factors identified as important when making those decisions. A web-based, mixed-methods survey was distributed to members of multiple professional societies for genetic counselors. A total of 318 genetic counselors across numerous specialties in the United States and Canada participated in this study. The satisfaction with decision scale was modified and applied to measure participants' decisional satisfaction. In their most recent pregnancies, most genetic counselors pursued carrier screening (77%) and aneuploidy and/or open neural tube defect screening (88%). A minority of genetic counselors (15%) utilized diagnostic testing. Common factors considered when making testing decisions included wanting information that could impact future decisions, test specifics (e.g., accuracy, methodology, and content), and knowledge gained from participants' genetic counseling background. The uptake of diagnostic testing among prenatal genetic counselors was significantly greater (p < 0.05) than the uptake among genetic counselors in other specialties. This informed study population largely self-directed their own prenatal care, leading to high satisfaction with their decisions. Data in this study provide evidence for promoting participation in prenatal screening and testing decision-making to maximize decisional satisfaction.
随着可供选择的项目增多，产前筛查和诊断检测的决策制定变得愈发复杂，如今孕妇能够获取比以往任何时候都更多的有关自身孕期的信息。遗传咨询师在产前基因筛查和检测选项方面接受过广泛培训，但在这个信息充分的人群中，个人决策制定在很大程度上仍未得到研究。本研究描述了遗传咨询师在自己孕期所做的产前检测决策，以及在做出这些决策时被认为重要的因素。一项基于网络的混合方法调查被分发给多个遗传咨询师专业协会的成员。美国和加拿大众多专业领域的总共318名遗传咨询师参与了这项研究。对决策满意度量表进行了修改并应用于测量参与者的决策满意度。在他们最近的孕期中，大多数遗传咨询师进行了携带者筛查（77%）以及非整倍体和/或开放性神经管缺陷筛查（88%）。少数遗传咨询师（15%）采用了诊断检测。做出检测决策时常见考虑的因素包括希望获取可能影响未来决策的信息、检测细节（如准确性、方法和内容），以及从参与者遗传咨询背景中获得的知识。产前遗传咨询师中诊断检测的采用率显著高于其他专业领域的遗传咨询师（p < 0.05）。这个信息充分的研究群体在很大程度上自主安排自己的产前护理，从而对自己的决策高度满意。本研究中的数据为促进参与产前筛查和检测决策制定以最大化决策满意度提供了证据。
