Hodgson Jan, Weil Jon
Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
J Genet Couns. 2012 Feb;21(1):17-23. doi: 10.1007/s10897-011-9410-9. Epub 2011 Oct 25.
Women are commonly offered testing in pregnancy to determine the health of their baby. An important component of informed decision-making about prenatal testing is provision of relevant, accurate, meaningful information concerning the conditions that are being tested for--many of which, such as Down syndrome, are associated with a varying degree of physical and intellectual disability. A range of health professionals, including genetic counselors, may provide information and support throughout the testing process, but available data suggest that discussion of disability is frequently absent or limited. To investigate genetic counselors' perceptions of this situation and identify potential barriers to discussion we facilitated interactive workshops at the 2007 National Society of Genetic Counselors Annual Education Conference (NSGC) and the 2008 European Meeting on Psychosocial Aspects of Genetics (EMPAG). Working groups identified relevant psychosocial issues and impediments to discussion (NSGC) or used a two-part scenario to promote discussion (EMPAG) and reported findings in notes and a closing plenary discussion. Inductive content analysis revealed that participants considered informed decision making to be a major reason for presenting information about disabilities in prenatal genetic counseling and endorsed the value of including information about daily life with Down syndrome and other disabilities. However, they identified three broad types of impediments to such discussion: counseling issues concerning the most appropriate manner to discuss disability under the complex circumstances of prenatal genetic counseling, less than optimal training and experience in addressing these issues, and perceived limitations in the participants' knowledge and understanding of life with disability. Our analysis of the responses from the workshop participants and additional thoughts on these issues have led us to develop recommendations for further research, training and clinical practice.
孕期通常会为女性提供检测,以确定其胎儿的健康状况。关于产前检测的知情决策的一个重要组成部分是提供有关所检测病症的相关、准确、有意义的信息——其中许多病症,如唐氏综合征,都与不同程度的身体和智力残疾有关。包括遗传咨询师在内的一系列健康专业人员可能会在整个检测过程中提供信息和支持,但现有数据表明,关于残疾的讨论往往缺失或受限。为了调查遗传咨询师对这种情况的看法并确定讨论的潜在障碍,我们在2007年全国遗传咨询师协会年度教育会议(NSGC)和2008年欧洲遗传学心理社会方面会议(EMPAG)上举办了互动研讨会。工作组确定了相关的心理社会问题和讨论障碍(NSGC),或使用一个分为两部分的场景来促进讨论(EMPAG),并在笔记和闭幕全体会议中报告了研究结果。归纳内容分析表明,参与者认为知情决策是在产前遗传咨询中介绍残疾信息的主要原因,并认可纳入有关唐氏综合征和其他残疾的日常生活信息的价值。然而,他们确定了此类讨论的三大类障碍:在产前遗传咨询的复杂情况下,关于讨论残疾的最合适方式的咨询问题;在处理这些问题方面培训和经验不足;以及参与者对残疾生活的知识和理解存在明显局限性。我们对研讨会参与者的回复分析以及对这些问题的进一步思考促使我们为进一步的研究、培训和临床实践提出建议。