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遗传咨询的未来:国际视角

The future of genetic counselling: an international perspective.

作者信息

Bowles Biesecker B, Marteau T M

机构信息

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

出版信息

Nat Genet. 1999 Jun;22(2):133-7. doi: 10.1038/9641.

Abstract

The focus of clinical genetics, and thus genetic counselling, is forecast to expand from the diagnosis and prediction of rare, often untreatable conditions, to the prediction of common, often treatable or preventable conditions. Whether this evolution is likely to proceed rapidly or at a pace that permits sensible integration of molecular genetic tools is unknown and a source of debate. It is clear, however, that genetic discoveries will modify the way in which disease and risk are conceptualized. Here, we predict how genetic counselling, specifically for more common diseases, might be provided in the decades to come. We envisage an expansion of professional roles and expertise for many health care providers and highlight the need for counselling practices to become more evidence based. Although we support an evidentiary-based approach to the integration of genetic testing into practice, genetic advance is unlikely to occur in an orderly and standardized manner within countries, much less among different countries and health care systems. Geneticists will become increasingly involved in professional education and policy-making regarding genetic testing and screening programs.

摘要

临床遗传学以及因此而来的遗传咨询的重点,预计将从罕见的、通常无法治疗的疾病的诊断和预测,扩展到常见的、通常可治疗或可预防的疾病的预测。这种演变是可能迅速推进,还是以一种能够合理整合分子遗传学工具的速度进行,目前尚不清楚,也是争论的一个源头。然而,很明显,基因发现将改变疾病和风险的概念化方式。在这里,我们预测在未来几十年里,特别是针对更常见疾病的遗传咨询可能会如何提供。我们设想许多医疗保健提供者的专业角色和专业知识将会扩大,并强调咨询实践需要变得更加基于证据。尽管我们支持将基因检测纳入实践的基于证据的方法,但基因进展在一个国家内部不太可能以有序和标准化的方式出现,在不同国家和医疗保健系统之间更是如此。遗传学家将越来越多地参与有关基因检测和筛查项目的专业教育和政策制定。

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