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新生儿重症监护病房中的全基因组测序与残疾:探索实际和伦理挑战。

Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges.

作者信息

Deem Michael J

机构信息

Center for Bioethics, Children's Mercy Hospital, Kansas City, Missouri, and Department of Multidisciplinary Studies and The Center for Genomic Advocacy, Indiana State University, Terre Haute, Indiana

出版信息

Pediatrics. 2016 Jan;137 Suppl 1(Suppl 1):S47-55. doi: 10.1542/peds.2015-3731I.

Abstract

Clinical whole-genome sequencing (WGS) promises to deliver faster diagnoses and lead to better management of care in the NICU. However,several disability rights advocates have expressed concern that clinical use of genetic technologies may reinforce and perpetuate stigmatization of and discrimination against disabled persons in medical and social contexts. There is growing need, then, for clinicians and bioethicists to consider how the clinical use of WGS in the newborn period might exacerbate such harms to persons with disabilities. This article explores ways to extend these concerns to clinical WGS in neonatal care. By considering these perspectives during the early phases of expanded use of WGS in the NICU, this article encourages clinicians and bioethicists to continue to reflect on ways to attend to the concerns of disability rights advocates, foster trust and cooperation between the medical and disability communities, and forestall some of the social harms clinical WGS might cause to persons with disabilities and their families.

摘要

临床全基因组测序(WGS)有望实现更快的诊断,并改善新生儿重症监护病房(NICU)的护理管理。然而,一些残疾权利倡导者担心,基因技术的临床应用可能会在医疗和社会环境中强化并延续对残疾人的污名化和歧视。因此,临床医生和生物伦理学家越来越需要考虑新生儿期WGS的临床应用如何可能加剧对残疾人的此类伤害。本文探讨了将这些担忧扩展到新生儿护理中临床WGS的方法。通过在NICU扩大使用WGS的早期阶段考虑这些观点,本文鼓励临床医生和生物伦理学家继续思考如何关注残疾权利倡导者的担忧,促进医疗界和残疾人群体之间的信任与合作,并预防临床WGS可能对残疾人和他们的家庭造成的一些社会伤害。

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