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从基因到公共卫生:基因技术在疾病预防中的应用。遗传学工作组

From genes to public health: the applications of genetic technology in disease prevention. Genetics Working Group.

作者信息

Khoury M J

机构信息

Birth Defects and Genetics Diseases Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341-3724, USA.

出版信息

Am J Public Health. 1996 Dec;86(12):1717-22. doi: 10.2105/ajph.86.12.1717.

DOI:10.2105/ajph.86.12.1717
PMID:9003127
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1380723/
Abstract

OBJECTIVES

With advances in the Human Genome Project, the implications of genetic technology in disease prevention should be assessed.

METHODS

The paradigm suggested in The Future of Public Health--assessment, policy development, and assurance--was used to examine the continuum from genetic technology to public health practice.

RESULTS

First, important public health functions are to (1) assess the impact of genes and their interactions with modifiable disease risk factors on the health status of the population and (2) assess the impact and safety of genetic testing on the population. Second, given the many implications of genetic testing, the public health community should participate in policy development related to the timing and use of genetic testing in disease prevention. Third, whenever appropriate, the public health community needs to ensure the development of public health genetics programs (e.g. newborn screening) and evaluate the quality and effectiveness of the use of genetic testing in disease prevention.

CONCLUSIONS

Although most current genetic tests are not ready for disease prevention, there is an important role for the public health community in translating genetic technology into disease prevention.

摘要

目标

随着人类基因组计划的进展,应评估基因技术在疾病预防中的影响。

方法

采用《公共卫生的未来》中提出的范式——评估、政策制定和保障——来审视从基因技术到公共卫生实践的连续过程。

结果

首先,重要的公共卫生功能包括:(1)评估基因及其与可改变的疾病风险因素的相互作用对人群健康状况的影响;(2)评估基因检测对人群的影响和安全性。其次,鉴于基因检测的诸多影响,公共卫生界应参与制定与疾病预防中基因检测的时机和使用相关的政策。第三,在适当的时候,公共卫生界需要确保公共卫生遗传学项目(如新生儿筛查)的开展,并评估疾病预防中基因检测使用的质量和效果。

结论

尽管目前大多数基因检测尚未准备好用于疾病预防,但公共卫生界在将基因技术转化为疾病预防方面可发挥重要作用。

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