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囊性纤维化的携带者检测:当地社区内的认知与态度

Carrier testing for cystic fibrosis: knowledge and attitudes within a local community.

作者信息

Magnay D, Wilson O, el Hait S, Balhamar M, Burn J

机构信息

Northern Region Genetics Service, Newcastle upon Tyne.

出版信息

J R Coll Physicians Lond. 1992 Jan;26(1):69-70.

PMID:1573590
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5375424/
Abstract

We report a questionnaire survey of 216 adults (aged 16-68) attending the dental hospital in Newcastle. This was undertaken to provide a representative assessment of the level of knowledge in the community of cystic fibrosis and attitudes towards testing for carrier status. Knowledge of inheritance and symptomatology of the condition was scored and found to be less than previously reported in selected population groups. In the majority the source of information reported was the mass media; only 27 respondents had any contact with an affected individual. The questionnaire provided information about the inheritance and effects of cystic fibrosis. Three-quarters of the respondents accepted the idea of carrier testing for themselves, which included most of those of reproductive age, and all considered that testing should be available to those planning a family. General practice surgeries were the most favoured venue for testing. The implications of these findings for those involved in the planning of population screening programmes are considered.

摘要

我们报告了一项针对216名(年龄在16至68岁之间)前往纽卡斯尔牙科医院就诊的成年人的问卷调查。此次调查旨在对囊性纤维化在社区中的知识水平以及对携带者状态检测的态度进行具有代表性的评估。对该病症的遗传和症状学知识进行了评分,结果发现其低于之前在特定人群组中的报告水平。大多数人报告的信息来源是大众媒体;只有27名受访者与患病个体有过接触。该问卷提供了有关囊性纤维化的遗传和影响的信息。四分之三的受访者接受了自身进行携带者检测的想法,其中包括大多数育龄人群,并且所有人都认为计划要孩子的人应该能够进行检测。全科医疗诊所是最受欢迎的检测场所。我们还考虑了这些发现对参与人群筛查计划规划的人员的意义。

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1
Carrier testing for cystic fibrosis: knowledge and attitudes within a local community.囊性纤维化的携带者检测:当地社区内的认知与态度
J R Coll Physicians Lond. 1992 Jan;26(1):69-70.
2
The impact of population based screening for carriers of cystic fibrosis.基于人群的囊性纤维化携带者筛查的影响。
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Population screening for cystic fibrosis in Western Australia: community response.西澳大利亚州囊性纤维化的人群筛查:社区反应
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Patient and parental attitudes toward genetic screening and its implications at an adult cystic fibrosis centre.成人囊性纤维化中心患者及其父母对基因筛查及其影响的态度。
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引用本文的文献

1
"Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia.“突然出现两名呈阳性的携带者是全新的情况”——澳大利亚一项基于人群的携带者筛查项目中,夫妻双方均被确诊为囊性纤维化携带者的经历
J Genet Couns. 2015 Dec;24(6):987-1000. doi: 10.1007/s10897-015-9833-9. Epub 2015 May 1.
2
A comparison of two approaches to education about carrier testing for cystic fibrosis.两种囊性纤维化携带者检测教育方法的比较。
J Genet Couns. 1995 Jun;4(2):97-113. doi: 10.1007/BF01408633.
3
'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening.“不用了,谢谢”——孕妇拒绝囊性纤维化携带者筛查的原因
J Community Genet. 2014 Apr;5(2):109-17. doi: 10.1007/s12687-013-0151-3. Epub 2013 May 29.
4
The views of general practitioners on community carrier screening for cystic fibrosis.全科医生对囊性纤维化社区携带者筛查的看法。
Br J Gen Pract. 1996 May;46(406):299-301.
5
Population screening in cystic fibrosis.囊性纤维化的群体筛查
J R Soc Med. 1993;86 Suppl 20(Suppl 20):2-6.
6
Screening for carriers of cystic fibrosis--a general practitioner's perspective.囊性纤维化携带者的筛查——全科医生视角
BMJ. 1993 Oct 2;307(6908):849-52. doi: 10.1136/bmj.307.6908.849.
7
Screening for cystic fibrosis in primary care.基层医疗中囊性纤维化的筛查。
BMJ. 1993 Jun 12;306(6892):1558-9. doi: 10.1136/bmj.306.6892.1558.
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Screening for cystic fibrosis. Screening in primary care is preferable.囊性纤维化筛查。在初级保健中进行筛查更为可取。
BMJ. 1994 Oct 1;309(6958):878.
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Teaching about cystic fibrosis carrier screening by using written and video information.通过书面和视频信息进行囊性纤维化携带者筛查的教学。
Am J Hum Genet. 1995 Jul;57(1):171-81.

本文引用的文献

1
Community attitudes to cystic fibrosis carrier testing in England: a pilot study.英国社区对囊性纤维化携带者检测的态度:一项试点研究。
Prenat Diagn. 1989 Oct;9(10):727-34. doi: 10.1002/pd.1970091008.
2
Identification of the cystic fibrosis gene: genetic analysis.囊性纤维化基因的鉴定:遗传分析
Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460.
3
Community attitudes to cystic fibrosis carrier screening.社区对囊性纤维化携带者筛查的态度。
Prenat Diagn. 1990 Apr;10(4):275-6. doi: 10.1002/pd.1970100413.
4
Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene.美国国立卫生研究院关于囊性纤维化基因人群筛查研讨会声明
N Engl J Med. 1990 Jul 5;323(1):70-1. doi: 10.1056/NEJM199007053230128.
5
Genetics, ethics, and audit.遗传学、伦理学与审计
Lancet. 1990 May 12;335(8698):1145-7. doi: 10.1016/0140-6736(90)91139-2.