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美国的伦理与医学遗传学:一项全国性调查。

Ethics and medical genetics in the United States: a national survey.

作者信息

Wertz D C, Fletcher J C

机构信息

Health Services Section, School of Public Health, Boston University, Massachusetts 02118.

出版信息

Am J Med Genet. 1988 Apr;29(4):815-27. doi: 10.1002/ajmg.1320290411.

Abstract

The approaches of 295 medical geneticists in the United States to 14 clinical problems and 3 screening situations that required a moral choice are summarized. These data are part of a survey of 682 geneticists in 19 nations. Of 490 U.S. geneticists asked to participate, 295 (60%) returned anonymous detailed questionnaires. There was strong (greater than 75%) consensus that preserving the mother's confidentiality overrides disclosure of true paternity; that conflicting test results, new/controversial interpretations of results, and ambiguous/artifactual results should be disclosed; that artificial insemination by donor, adoption, taking chances, contraception, sterilization, and in-vitro fertilization with a donor egg should be presented as reproductive options to carriers of disorders not diagnosable prenatally; that prenatal diagnosis should be performed for patients who refuse abortion and for maternal anxiety in the absence of medical indications; that screening in the workplace should be voluntary. There was no consensus about disclosure of a diagnosis of Huntington disease or hemophilia A to relatives at risk, against the patient's wishes, or about disclosure of parental translocations. Geneticists in the U.S. differed from 18 other nations in presenting surrogate motherhood as an option (67%); willingness to perform prenatal diagnosis for sex selection or refer (62%); and disclosure of XY genotype in a female (62%). Men were more likely than women to say that they would give directive counseling. Women were more likely than men to say that they would perform prenatal diagnosis for maternal anxiety or for sex selection.

摘要

总结了美国295位医学遗传学家针对14个临床问题以及3种需要做出道德抉择的筛查情况所采取的方法。这些数据是对19个国家682位遗传学家进行调查的一部分。在被邀请参与调查的490位美国遗传学家中,有295位(60%)返回了匿名详细问卷。对于以下问题存在强烈(超过75%)共识:保护母亲的隐私比披露真实父系身份更为重要;应披露相互矛盾的检测结果、对结果的新/有争议的解释以及模糊/人为的结果;对于无法在产前诊断的疾病携带者,应将供体人工授精、收养、冒险、避孕、绝育以及供体卵子体外受精作为生育选择;对于拒绝堕胎的患者以及在无医学指征情况下因母亲焦虑而应进行产前诊断;工作场所的筛查应是自愿的。对于违背患者意愿向有风险的亲属披露亨廷顿病或甲型血友病的诊断,以及对于披露父母的染色体易位,没有达成共识。美国的遗传学家在将代孕作为一种选择(67%)、愿意为性别选择进行产前诊断或转诊(62%)以及披露女性的XY基因型(62%)方面与其他18个国家不同。男性比女性更有可能表示会提供指导性咨询。女性比男性更有可能表示会因母亲焦虑或性别选择而进行产前诊断。

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