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Epidemiología y genética: ?alianza estratégica en el nuevo milenio?

机译:流行病学和遗传学:新世纪的战略联盟?

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Although the information derived from biological markers could conceivably be used to overcome some of the problems intrinsic to virtually all epidemiologic study designs-case definition, true exposure level, host susceptibility and resistance to factors of interest, the misclassification of study subjects (false positive and false negative test results), etc.-, we are still unable to resolve all such problems with the tools available at present. Biological markers seem more promising as potential indicators of the degree of susceptibility than as indicators of disease occurrence, an application requiring further technical refinement. Currently biological markers are employed in public health mainly to screen for particular diseases. Unfortunately, these markers have their limitations. For one thing, it is unlikely that they will completely eliminate the problem of false positive and false negative results, since DNA from solid tumors undergoes slight degradation due to necrosis and since genetic markers are susceptible to the effects of exposure to medication, diet, sex, ethnicity, and even the circadian cycle. And even if false positives and negatives were ultimately eliminated, it would be impossible to use many of the analytical tools based on two by two tables, such as the chi squared test, logistic regression, the Poisson regression, Cox' proportional hazards ratio, etc., since such tools rely on comparisons of the number of false positives and negatives in the exposed and non-exposed groups. Finally, albeit no less important, certain ethical issues must be carefully considered before allowing the massive use of human genetic markers, which could lead to violations of the rights of individuals, families, and communities if carried out in an indiscriminate, unregulated fashion. Epidemiology is rapidly broadening its scope, a trend that will continue into the future; new analytical tools will be developed, and the working hypotheses to which such tools will be applied will change. At present the scientific community is paying increased attention to this field of study, but more research and discussion are needed to respond to many of the questions for which we have no satisfactory answers yet.
机译:尽管可以想象地使用从生物标志物获得的信息来克服几乎所有流行病学研究设计固有的一些问题,例如病例定义,真实暴露水平,宿主易感性和对感兴趣因素的抵抗力,研究对象的错误分类(假阳性和错误的负面测试结果)等,我们仍然无法使用当前可用的工具解决所有此类问题。生物标志物作为易感性程度的潜在指标似乎比疾病疾病的指标更有希望,该应用需要进一步的技术改进。当前,生物标记物主要用于公共卫生中以筛查特定疾病。不幸的是,这些标记有其局限性。一方面,它们不可能完全消除假阳性和假阴性结果的问题,因为实体肿瘤的DNA会由于坏死而发生轻微降解,并且由于遗传标记容易受到药物,饮食,性别的影响,种族,甚至是昼夜节律周期。即使最终消除了错误的肯定和否定,也无法使用许多基于两乘两表的分析工具,例如卡方检验,逻辑回归,泊松回归,Cox比例风险比等。因为这些工具依赖于暴露组和未暴露组中假阳性和阴性数的比较。最后,尽管同样重要,但在允许大规模使用人类遗传标记之前,必须仔细考虑某些伦理问题,如果以不加区分,不受管制的方式进行,可能会导致侵犯个人,家庭和社区的权利。流行病学正在迅速扩大其范围,这一趋势将持续到将来。将开发新的分析工具,并且将应用这些工具的工作假设也会发生变化。当前,科学界越来越重视这一研究领域,但是需要更多的研究和讨论来回答我们还没有令人满意的答案的许多问题。

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