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常染色体非整倍体患者父母对基因编辑技术假设性应用的态度。

Attitudes Toward Hypothetical Uses of Gene-Editing Technologies in Parents of People with Autosomal Aneuploidies.

机构信息

Department of Genetics, Stanford University School of Medicine, Stanford, California.

Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, Ohio.

出版信息

CRISPR J. 2019 Oct;2(5):324-330. doi: 10.1089/crispr.2019.0021.

Abstract

Researchers are exploring the use of gene-editing technologies to prevent and/or treat genetic conditions in humans. Stakeholder views, including those of patient and family populations, are important in the ongoing bioethical discussion. We conducted 27 semi-structured interviews with parents of people with trisomy 21 (T21;  = 10), trisomy 18 (T18;  = 8), and trisomy 13 (T13;  = 9)-conditions not previously studied in regard to attitudes toward hypothetical gene editing. While many discussions focus on the morality of gene editing, parents in our study focused on quality of life and concerns about changing their children's identity. All participants prioritized ameliorating life-threatening health issues when those were present; many also emphasized increasing their children's communication and cognitive ability. These results suggest that patient populations with the lived experience of genetic conditions have unique concerns that may differ from broader discourse.

摘要

研究人员正在探索利用基因编辑技术来预防和/或治疗人类的遗传疾病。利益相关者的观点,包括患者和家属群体的观点,在当前的生物伦理讨论中很重要。我们对 27 名 21 三体综合征(T21;=10)、18 三体综合征(T18;=8)和 13 三体综合征(T13;=9)患者的家长进行了半结构化访谈,这些疾病在假设的基因编辑方面以前没有研究过他们的态度。虽然许多讨论都集中在基因编辑的道德性上,但我们研究中的家长关注的是生活质量和对改变孩子身份的担忧。所有参与者都优先考虑缓解危及生命的健康问题,当这些问题存在时;许多人还强调提高他们孩子的沟通和认知能力。这些结果表明,有遗传疾病亲身经历的患者群体有独特的关注点,可能与更广泛的讨论不同。

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