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构建用于评估和优化新生儿囊性纤维化血斑筛查的生物伦理框架。

Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis.

作者信息

Armstrong Rachael E, Frith Lucy, Ulph Fiona M, Southern Kevin W

机构信息

Department of Women's and Children's Health, University of Liverpool, Liverpool L12 2AP, UK;

Institute of Population Health, University of Liverpool, Liverpool L69 3GL, UK;

出版信息

Int J Neonatal Screen. 2020 May 26;6(2):40. doi: 10.3390/ijns6020040. eCollection 2020 Jun.

DOI:10.3390/ijns6020040
PMID:33073032
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7422997/
Abstract

Newborn bloodspot screening for cystic fibrosis is a valid public health strategy for populations with a high incidence of this inherited condition. There are a wide variety of approaches to screening and in this paper, we propose that a bioethical framework is required to determine the most appropriate screening protocol for a population. This framework depends on the detailed evaluation of the ethical consequences of all screening outcomes and placing these in the context of the genetic profile of the population screened, the geography of the region and the healthcare resources available.

摘要

对囊性纤维化进行新生儿血斑筛查,对于患有这种遗传性疾病的高发病率人群而言,是一项有效的公共卫生策略。筛查方法多种多样,在本文中,我们提出需要一个生物伦理框架来确定针对某一人群最合适的筛查方案。该框架取决于对所有筛查结果的伦理后果进行详细评估,并将这些后果置于所筛查人群的基因概况、该地区的地理情况以及可用的医疗资源背景之中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e9/7422997/6d449f5c2626/IJNS-06-00040-g001a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e9/7422997/6d449f5c2626/IJNS-06-00040-g001a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e9/7422997/6d449f5c2626/IJNS-06-00040-g001a.jpg

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本文引用的文献

1
Psychological Impact on Parents of an Inconclusive Diagnosis Following Newborn Bloodspot Screening for Cystic Fibrosis: A Qualitative Study.新生儿血斑筛查囊性纤维化结果不明确对父母的心理影响:一项定性研究
Int J Neonatal Screen. 2019 Jun 11;5(2):23. doi: 10.3390/ijns5020023. eCollection 2019 Jun.
2
Promises and perils of using genetic tests to predict risk of disease.使用基因检测预测疾病风险的前景与风险
BMJ. 2020 Feb 7;368:m14. doi: 10.1136/bmj.m14.
3
Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening.
我们为什么要对新生儿进行囊性纤维化筛查?
Int J Neonatal Screen. 2020 Jul 8;6(3):56. doi: 10.3390/ijns6030056. eCollection 2020 Sep.
新生儿筛查后诊断不明确的囊性纤维化患儿的表型。
Pediatr Pulmonol. 2020 Apr;55(4):918-928. doi: 10.1002/ppul.24634. Epub 2020 Jan 9.
4
The future of cystic fibrosis care: a global perspective.囊性纤维化护理的未来:全球视角。
Lancet Respir Med. 2020 Jan;8(1):65-124. doi: 10.1016/S2213-2600(19)30337-6. Epub 2019 Sep 27.
5
Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition.新生儿血斑筛查囊性纤维化结果呈阳性后的诊断不明确;统一国际定义的阐释
J Cyst Fibros. 2019 Nov;18(6):778-780. doi: 10.1016/j.jcf.2019.04.010. Epub 2019 Apr 24.
6
Including ELSI research questions in newborn screening pilot studies.将 ELSI 研究问题纳入新生儿筛查试点研究中。
Genet Med. 2019 Mar;21(3):525-533. doi: 10.1038/s41436-018-0101-x. Epub 2018 Aug 13.
7
Early diagnosis from newborn screening maximises survival in severe cystic fibrosis.新生儿筛查早期诊断可使重症囊性纤维化患者的生存率最大化。
ERJ Open Res. 2018 Apr 20;4(2). doi: 10.1183/23120541.00109-2017. eCollection 2018 Apr.
8
ECFS best practice guidelines: the 2018 revision.欧洲过敏与临床免疫学会变应原标准:2018 修订版。
J Cyst Fibros. 2018 Mar;17(2):153-178. doi: 10.1016/j.jcf.2018.02.006. Epub 2018 Mar 3.
9
Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis.早期生长模式持续 12 年,并影响囊性纤维化的肺部结局。
J Cyst Fibros. 2018 Jul;17(4):528-535. doi: 10.1016/j.jcf.2018.01.006. Epub 2018 Feb 1.
10
False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use.囊性纤维化的新生儿筛查假阳性与医疗保健利用情况
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