Suppr超能文献

知识的负担与益处:基于人群的新生儿听力基因组筛查的伦理考量

The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.

作者信息

Mitchell Calli O, Rivera-Cruz Greysha, Chau Matthew Hoi Kin, Dong Zirui, Choy Kwong Wai, Shen Jun, Amr Sami, Giersch Anne B S, Morton Cynthia C

机构信息

Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA 02115, USA.

Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.

出版信息

Int J Neonatal Screen. 2022 May 27;8(2):36. doi: 10.3390/ijns8020036.

Abstract

Recent advances in genomic sequencing technologies have expanded practitioners' utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data from progress in the interpretation of genome sequences, clinicians face decisions about how and when genomic information should be presented to families, and at what potential expense. Presently, there is limited knowledge or experience in establishing the value of implementing genome sequencing into newborn screening. Herein we provide insight into the complexities and the burden and benefits of knowledge resulting from genome sequencing of newborns.

摘要

基因组测序技术的最新进展已及时、高效地扩大了从业者对遗传信息的利用,以实现准确诊断。随着基因组序列解读进展带来的基因组数据资源不断增加,临床医生面临着关于如何以及何时向家庭呈现基因组信息以及可能付出何种代价的决策。目前,在确定将基因组测序纳入新生儿筛查的价值方面,知识和经验有限。在此,我们深入探讨了新生儿基因组测序所带来的复杂性、知识负担及益处。

相似文献

7
Newborn Screening in the Era of Precision Medicine.精准医学时代的新生儿筛查
Adv Exp Med Biol. 2017;1005:47-61. doi: 10.1007/978-981-10-5717-5_3.
10
Whole Genome Sequencing and Newborn Screening.全基因组测序与新生儿筛查
Curr Genet Med Rep. 2016 Mar 1;4(1):1-6. doi: 10.1007/s40142-016-0084-3. Epub 2016 Feb 1.

本文引用的文献

2
Genetics of Childhood Hearing Loss.儿童听力损失的遗传学研究
Otolaryngol Clin North Am. 2021 Dec;54(6):1081-1092. doi: 10.1016/j.otc.2021.08.008.
5

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验