遗传咨询

D. Wertz
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摘要

目的:本综述的目的是描述遗传咨询(GC)目前的概念和哲学和伦理原则,接受了绝大多数国家和世界卫生组织的建议,过程的各个阶段,其结果和遗传疾病对家庭的心理影响。资料来源:所提出的概念是基于从20世纪30年代至今的文献的历史综合,所引用的文章代表了今天为GC的理论和实践提供基础的最重要的研究。研究结果总结:GC的现代定义是一个沟通过程,处理与家庭中遗传疾病发生相关的人类问题。至关重要的是,卫生专业人员要了解由遗传疾病引发的心理问题以及如何控制这些问题。在人类和医学遗传学领域,我们仍然生活在一个技术和科学方面占主导地位的阶段,很少强调对情绪反应和人们对这些疾病的适应过程的研究,这导致人们对已经发生的事件的理解程度很低,这些事件对家庭生活和社会产生了负面影响。结论:本文讨论了遗传疾病家庭转介GC的必要性,以及该领域专业人员在人性化护理和开发非指导性心理GC技术方面投入更多的必要性。
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Genetic Counseling
Objective: The objective of this review of genetic counseling (GC)istodescribethecurrentconceptsandphilosophicalandethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. Sources: The concepts presented are based on an historical synthesisoftheliteratureonGCsincethe1930suntiltoday,andthe articlescitedrepresentthemostimportantresearchpublishedwhich today provides the foundation for the theory and practice of GC. Summary of the findings: The modern definition of GC is a process of communication that deals with the human problems related with the occurrence of a genetic disease in a family. It is of fundamental importance that health professionals are aware of the psychological aspects triggered by genetic diseases and the ways in which these can be managed. In the field of human and medical genetics we are still living in a phase in which technical and scientific aspects predominate, with little emphasis on the study of emotional reactions and people's processes of adaptation to these diseases, whichleadstoclientshavingalowlevelofunderstandingoftheevents thathavetakenplace,withnegativeconsequencesforfamilylifeand for society. Conclusions: The review concludes by discussing the need to refer families with genetic diseases for GC and the need for professionals working in this area to invest more in humanizing care and developing non-directive psychological GC techniques.
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