Williams S R, Berrier K L, Redlinger-Grosse K, Edwards J G
Genetic Counseling Program, School of Medicine, University of South Carolina, Columbia, SC, USA.
Savannah Perinatology Associates, 4750 Waters Avenue, Suite 302, Savannah, GA, 31404, USA.
J Genet Couns. 2017 Apr;26(2):337-354. doi: 10.1007/s10897-016-0016-0. Epub 2016 Oct 22.
Utilizing the tenet, "Relationship is integral to the genetic counseling process" from the Reciprocal Engagement Model (REM) of genetic counseling practice, this study sought to explore the relationship between the genetic counselor and patient following a "life-limiting" prenatal diagnosis that resulted in a major loss (termination, stillbirth/miscarriage, or neonatal death). The specific aims of this study were to: 1) Understand and describe aspects of the genetic counselor-patient relationship in the context of the life-limiting prenatal diagnosis, and identify characteristics and actions of the 2) genetic counselor and 3) patient that influence the relationship. Genetic counselor (GC) participants were recruited via a web-based survey distributed by NSGC and the NSGC Prenatal SIG. Eligible GCs maintained a relationship with a patient beyond the prenatal diagnosis and had a willing patient participant. Individual 60-min audio-recorded telephone interviews were conducted with eight GC and 8 respective patients (n = 16) using parallel interview guides (n = 16). Transcriptions underwent thematic content analysis for systematic coding and identification of emergent themes. The GC-patient relationship was characterized by the evolution of communication and promoted by the supportive needs of the patient, the nature of the diagnosis, and characteristics and supportive actions of the participants. This exploratory study highlights the unique service of support offered by genetic counselors in the context of a life-limiting prenatal diagnosis.
本研究运用遗传咨询实践的互惠参与模型(REM)中的“关系是遗传咨询过程不可或缺的一部分”这一原则,旨在探讨在导致重大损失(终止妊娠、死产/流产或新生儿死亡)的“危及生命”的产前诊断之后,遗传咨询师与患者之间的关系。本研究的具体目标是:1)在危及生命的产前诊断背景下理解和描述遗传咨询师与患者关系的各个方面,并确定2)遗传咨询师和3)患者影响这种关系的特征和行为。通过国家遗传咨询师协会(NSGC)和NSGC产前特殊兴趣小组(SIG)发布的基于网络的调查招募遗传咨询师(GC)参与者。符合条件的遗传咨询师与产前诊断后的患者保持联系,且有愿意参与的患者。使用并行访谈指南(共16份)对8名遗传咨询师和8名相应患者(n = 16)进行了60分钟的个人电话录音访谈。对访谈记录进行主题内容分析,以进行系统编码和识别新出现的主题。遗传咨询师与患者的关系以沟通的演变为特征,并受到患者的支持需求、诊断的性质以及参与者的特征和支持行为的促进。这项探索性研究突出了遗传咨询师在危及生命的产前诊断背景下提供的独特支持服务。