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新生儿快速全基因组测序的伦理意义

Ethical Implications of Rapid Whole-Genome Sequencing in Neonates.

作者信息

Bell Susan Givens

机构信息

Asante Rogue Regional Medical Center, Medford, OR 97504, USA, Email:

出版信息

Neonatal Netw. 2018 Jan 1;37(1):42-44. doi: 10.1891/0730-0832.37.1.42.

DOI:10.1891/0730-0832.37.1.42
PMID:29436358
Abstract

Using rapid whole-genome sequencing (WGS), an infant's genome can now be sequenced in as little as 26 hours allowing for rapid diagnosis and precise, individualized management of monogenetic causes of disease. The potential for decreasing cost and valuable time to diagnosis along with pain and suffering is becoming a reality in the NICU. Coupled with rapidly developing technology is a need to explore the associated ethical implication.

摘要

通过快速全基因组测序(WGS),现在可以在短短26小时内对婴儿的基因组进行测序,从而实现对单基因疾病病因的快速诊断和精确、个性化管理。在新生儿重症监护病房(NICU),降低成本、缩短诊断所需的宝贵时间以及减少痛苦的可能性正在成为现实。与快速发展的技术相伴而来的是探索相关伦理问题的必要性。

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引用本文的文献

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Whole genome sequencing in clinical practice.临床实践中的全基因组测序。
BMC Med Genomics. 2024 Jan 29;17(1):39. doi: 10.1186/s12920-024-01795-w.
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Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.应对启动快速全基因组测序计划所面临的伦理和实验室挑战。
J Clin Transl Sci. 2021 Aug 9;5(1):e177. doi: 10.1017/cts.2021.833. eCollection 2021.
3
The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.儿科全基因组测序中的伦理问题全景:系统定性综述。
BMC Pediatr. 2021 Sep 6;21(1):387. doi: 10.1186/s12887-021-02830-w.
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[Application of the artificial intelligence-rapid whole-genome sequencing diagnostic system in the neonatal/pediatric intensive care unit].人工智能快速全基因组测序诊断系统在新生儿/儿科重症监护病房的应用
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Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.与产前和产后出生缺陷相关的细胞遗传学和分子诊断检测。
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