Graduate School of Genetic Counseling, Sarah Lawrence College, Bronxville, NY, USA.
Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
J Genet Couns. 2020 Aug;29(4):574-586. doi: 10.1002/jgc4.1276. Epub 2020 Apr 16.
Clinical exome sequencing (CES) is an established method for genetic diagnosis and is used widely in clinical practice. Studies of the parental experience of CES, which inform guidelines for best practices for genetic counseling, have been predominately comprised of White, non-Latinx participants. The aim of this study was to explore the parental experiences of CES in a Latinx community and to understand how their experiences are influenced by culture and language. We conducted semi-structured interviews in English and Spanish with 38 Latinx parents of children who had CES. Some of the themes that emerged were common to those previously identified, including a sense of obligation to pursue testing and a mixed emotional response to their child's results. Parents who had lower education level and/or received care from a provider who did not share their language had more confusion about their child's CES results and greater dissatisfaction with care compared with parents who had higher education level and/or received care from a provider who spoke their language. We also found evidence of hampered shared decision making and/or disempowered patient decision making regarding CES testing. Our data suggest unique needs for Latinx families having CES, particularly those who are non-English speaking when an interpreter is used. Our data support the value in continuing to take steps to improve culturally competent care by improving interpretation services and recruiting and training a genetic workforce that is ethnically, linguistically, and culturally diverse.
临床外显子组测序(CES)是一种已确立的遗传诊断方法,已广泛应用于临床实践。为了为遗传咨询提供最佳实践指南提供信息,有关 CES 的父母体验的研究主要由白种人、非拉丁裔参与者组成。本研究旨在探索拉丁裔社区中父母的 CES 体验,并了解他们的体验如何受到文化和语言的影响。我们使用英语和西班牙语对 38 名接受过 CES 的拉丁裔儿童的父母进行了半结构化访谈。一些出现的主题与之前确定的主题相同,包括对检测的义务感以及对孩子结果的混合情绪反应。与接受过英语或西班牙语服务的父母相比,教育程度较低的父母或接受过与其语言不同的提供者服务的父母,对孩子的 CES 结果感到更加困惑,对护理的满意度也更低。我们还发现,在 CES 检测方面,存在共享决策和/或患者决策受限的证据。我们的数据表明,拉丁裔家庭在进行 CES 时存在独特的需求,特别是在使用口译员时,他们不会说英语。我们的数据支持继续采取措施,通过改善口译服务以及招募和培训具有种族、语言和文化多样性的遗传劳动力,来改善文化能力护理的价值。