Roadhouse C, Shuman C, Anstey K, Sappleton K, Chitayat D, Ignagni E
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
J Genet Couns. 2018 Jun 16. doi: 10.1007/s10897-018-0265-1.
Genetic counselors adopt seemingly contradictory roles: advocating for individuals with genetic conditions while offering prenatal diagnosis and the option of selective termination to prevent the birth of a child with a disability. This duality contributes to the tension between the disability and clinical genetics communities. Varying opinions exist amongst the disability community: some value genetic services while others are opposed. However, there is limited research exploring the opinions of individuals with a disability regarding issues related to reproduction and genetic services in the context of personal experience. This exploratory qualitative study involved interviews with seven women and three men who self-identify as having a disability. We sought to gain their perspectives on experiences with disability, thoughts about reproduction and parenting, and perceptions of genetic services. Transcripts of the interviews were analyzed thematically using qualitative content analysis. Data analysis showed that societal views of disability affected the lived experience and impacted reproductive decision-making for those with a disability. It also showed differing interest in genetic services. Concerns about the perceived collective implications of genetic services were also raised. These findings contribute to the understanding of the disability perspective toward reproductive decision-making and genetic services. A further goal is to promote a meaningful dialogue between the genetics and disability communities, with the potential to enhance the genetic and reproductive care provided to individuals with disabilities.
一方面为患有遗传疾病的个体提供支持,另一方面提供产前诊断以及选择性终止妊娠的选择,以防止残疾儿童的出生。这种双重性加剧了残疾群体与临床遗传学群体之间的紧张关系。残疾群体内部存在不同意见:一些人重视遗传服务,而另一些人则持反对态度。然而,在个人经历背景下,探索残疾人对与生殖和遗传服务相关问题看法的研究有限。这项探索性定性研究对七名女性和三名男性进行了访谈,他们自我认定为残疾人士。我们试图了解他们对残疾经历、生殖和育儿想法以及对遗传服务看法的观点。访谈记录采用定性内容分析法进行主题分析。数据分析表明,社会对残疾的看法影响了残疾人士的生活经历,并对其生殖决策产生影响。研究还表明他们对遗传服务的兴趣各不相同。同时也引发了对遗传服务潜在集体影响的担忧。这些发现有助于理解残疾群体对生殖决策和遗传服务的观点。进一步的目标是促进遗传学群体与残疾群体之间有意义的对话,这有可能改善为残疾人士提供的遗传和生殖护理。