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遗传性血色素沉着症的基因歧视与筛查

Genetic discrimination and screening for hemochromatosis.

作者信息

Alper J S, Geller L N, Barash C I, Billings P R, Laden V, Natowicz M R

机构信息

Center for Genetics and Public Policy, University of Massachusetts-Boston 02125.

出版信息

J Public Health Policy. 1994 Autumn;15(3):345-58.

PMID:7983195
Abstract

Recent advances in tests for the genotype for hemochromatosis and suggestions that the tests be used in mass screening programs for the disease raise the possibility of a large increase in the incidence of discrimination against people who are found to be homozygous for hemochromatosis. This paper presents cases of genetic discrimination drawn from a study of discrimination against people with a variety of genetic conditions. The cases discussed here involve employment and several types of insurance discrimination against people diagnosed with hemochromatosis who either are currently asymptomatic or whose condition is controlled by means of phlebotomies. There is no justification for these types of discrimination since people with controlled hemochromatosis suffer no excess mortality or morbidity. Our study suggests that genetic discrimination is already a serious problem and that any proposed screening program for hemochromatosis or other genetic condition must consider and attempt to mitigate its effects.

摘要

血色素沉着症基因型检测的最新进展以及在该疾病大规模筛查项目中使用这些检测的建议,增加了对被发现为血色素沉着症纯合子的人歧视发生率大幅上升的可能性。本文介绍了从对患有各种遗传疾病的人的歧视研究中得出的基因歧视案例。这里讨论的案例涉及对被诊断患有血色素沉着症的人的就业歧视和几种保险歧视,这些人要么目前没有症状,要么病情通过放血疗法得到控制。这些类型的歧视没有正当理由,因为病情得到控制的血色素沉着症患者没有额外的死亡率或发病率。我们的研究表明,基因歧视已经是一个严重问题,任何提议的血色素沉着症或其他遗传疾病筛查项目都必须考虑并试图减轻其影响。

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