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换个名字的疾病:关于遗传病概念的思考

A disease by any other name: musings on the concept of a genetic disease.

作者信息

Smith K C

机构信息

Clemson University, Department of Philosophy and Religion, 101 Hardin Hall, Clemson, SC 29634, USA.

出版信息

Med Health Care Philos. 2001;4(1):19-30. doi: 10.1023/a:1009930312079.

DOI:10.1023/a:1009930312079
PMID:11315416
Abstract

What exactly is a genetic disease? For a phrase one hears on a daily basis, there has been surprisingly little analysis of the underlying concept. Medical doctors seem perfectly willing to admit that the etiology of disease is typically complex, with a great many factors interacting to bring about a given condition. On such a view, descriptions of diseases like cancer as genetic seem at best highly simplistic, and at worst philosophically indefensible. On the other hand, there is clearly some practical value to be had by classifying diseases according to their predominant cause when this can be accomplished in a theoretically satisfactory manner. The question therefore becomes exactly how one should go about selecting a single causal factor among many to explain the presence of disease. When an attempt to defend such causal selection is made at all, the standard accounts offered (Koch's postulates, Hill's epidemiological criteria, manipulability) are all clearly inadequate. I propose, however, an epidemiological account of disease causation which walks the fine line between practical applicability and theoretical considerations of causal complexity and attempts to compromise between patient-centered and population-centered concepts of disease. The epidemiological account is the most basic framework consistent with our strongly held intuitions about the causal classification of disease, yet it avoids the difficulties encountered by its competitors.

摘要

究竟什么是遗传病?对于一个人们每天都会听到的术语而言,对其基本概念的分析竟出奇地少。医生们似乎完全愿意承认,疾病的病因通常很复杂,众多因素相互作用才导致特定病症。照此观点,将诸如癌症之类的疾病描述为遗传性疾病,往好里说是过于简单化,往坏里说是在哲学上站不住脚。另一方面,当能够以理论上令人满意的方式根据疾病的主要病因对其进行分类时,显然会有一些实际价值。因此问题就变成了究竟应该如何在众多病因中挑选出一个单一的因果因素来解释疾病的存在。当试图为这种因果选择进行辩护时,所提供的标准解释(科赫法则、希尔的流行病学标准、可操控性)显然都不充分。然而,我提出一种疾病因果关系的流行病学解释,它在实际适用性与因果复杂性的理论考量之间走钢丝,并试图在以患者为中心和以人群为中心的疾病概念之间达成妥协。这种流行病学解释是与我们对疾病因果分类的强烈直觉相一致的最基本框架,但它避免了其竞争对手所遇到的困难。

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The causation of disease - the practical and ethical consequences of competing explanations.疾病的病因——相互竞争的解释所带来的实际和伦理后果。
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The geneticization of diagnostics.诊断的基因化

本文引用的文献

1
Equivocal notions of accuracy and genetic screening of the general population.关于准确性的模糊概念以及普通人群的基因筛查。
Mt Sinai J Med. 1998 May;65(3):178-84; discussion 215-23.
2
Causes.原因。
Am J Epidemiol. 1976 Dec;104(6):587-92. doi: 10.1093/oxfordjournals.aje.a112335.
Med Health Care Philos. 2006;9(2):193-200. doi: 10.1007/s11019-005-5292-7.
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What is a genetic cause? The example of Alzheimer's Disease.什么是基因病因?以阿尔茨海默病为例。
Med Health Care Philos. 2006;9(3):273-84. doi: 10.1007/s11019-006-9005-7.
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Can it be a "sin" to understand disease? On "genes" and "eugenics" and an "unconnected connection".了解疾病会是一种“罪过”吗?关于“基因”与“优生学”以及一种“无关联的联系”。
Med Health Care Philos. 2001;4(1):5-17. doi: 10.1023/a:1009974111171.