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.

中文翻译：

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拉丁裔父母临床外显子组测序经验的定性研究。

临床外显子组测序（CES）是一种既定的基因诊断方法，在临床实践中得到广泛应用。对 CES 父母经历的研究，为遗传咨询的最佳实践提供指导，主要由白人、非拉丁裔参与者组成。本研究的目的是探索拉丁裔社区中 CES 的父母经历，并了解他们的经历如何受到文化和语言的影响。我们用英语和西班牙语对 38 位患有 CES 儿童的拉丁裔父母进行了半结构化访谈。出现的一些主题与先前确定的主题相同，包括进行测试的义务感和对孩子结果的复杂情绪反应。与受教育程度较高和/或接受来自不同语言的提供者的护理的父母相比，受教育水平较低和/或接受来自不同语言的提供者的护理的父母对孩子的 CES 结果更加困惑，对护理的不满也更大说着他们的语言。我们还发现了关于 CES 测试阻碍共享决策和/或剥夺患者决策权的证据。我们的数据表明拥有 CES 的拉丁裔家庭的独特需求，特别是那些在使用口译员时不会说英语的家庭。我们的数据支持通过改善口译服务以及招聘和培训具有种族、语言和文化多样性的遗传劳动力来继续采取措施改善文化护理的价值。