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医学遗传学家面临伦理困境:18个国家的跨文化比较。

Medical geneticists confront ethical dilemmas: cross-cultural comparisons among 18 nations.

作者信息

Wertz D C, Fletcher J C, Mulvihill J J

机构信息

Health Services Section, Boston University School of Public Health, MA 02118-2394.

出版信息

Am J Hum Genet. 1990 Jun;46(6):1200-13.

Abstract

To provide a basis for international discussion of ethical problems, we studied responses of medical geneticists in 18 countries to questionnaires about 14 clinical cases and five screening situations. Of 1,053 asked to participate, 677 (64%) responded. There was greater than or equal to 75% consensus on five cases involving (1) disclosure of (1) conflicting diagnostic findings, (2) disclosure of ambiguous results, (3) disclosure of controversial interpretations, (4) protection of mother's confidentiality in cases of false paternity, and (5) nondirective counseling about 45,X and XYY syndrome. A majority (51%-60%) would disclose the diagnosis to relatives at risk for Huntington disease or hemophilia A, against the patient's wishes; would disclose which parent carries a translocation causing Down syndrome; and would disclose XY genotype in a female. As reproductive options for patients with disorders not diagnosable prenatally, 84% would discuss artificial insemination by a donor, 66% would discuss in vitro fertilization with donor egg, and 46% would discuss surrogate motherhood. In all, 85% would perform prenatal diagnosis for (or would refer) parents who refuse abortion, 75% for maternal anxiety, and 42% for selection of fetal sex. Screening questions showed that 72% believed that workplace screening should be voluntary and that results should be confidential.

摘要

为了给国际上关于伦理问题的讨论提供依据,我们研究了18个国家的医学遗传学家对有关14个临床病例和5种筛查情况的问卷的答复。在被邀请参与的1053人中,677人(64%)作出了回应。对于5个病例存在大于或等于75%的共识,这些病例涉及:(1)披露相互矛盾的诊断结果;(2)披露不明确的结果;(3)披露有争议的解释;(4)在父系身份存疑的情况下保护母亲的隐私;以及(5)对45,X和XYY综合征进行非指导性咨询。多数人(51%-60%)会违背患者意愿,将亨廷顿病或甲型血友病的诊断结果告知有患病风险的亲属;会披露是父母中的哪一方携带导致唐氏综合征的易位基因;以及会披露女性的XY基因型。作为无法在产前诊断出疾病的患者的生殖选择,84%的人会讨论供体人工授精,66%的人会讨论供体卵子体外受精,46%的人会讨论代孕。总体而言,85%的人会为拒绝堕胎的父母进行产前诊断(或转诊),75%的人会因孕妇焦虑而进行产前诊断,42%的人会因胎儿性别选择而进行产前诊断。筛查问题显示,72%的人认为职场筛查应该是自愿的,而且结果应该保密。

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