Greendale K, Pyeritz R E
Genetics Education and Information Program, Bureau of Chronic Disease Services, New York State Department of Health, USA.
Am J Med Genet. 2001 Fall;106(3):223-32. doi: 10.1002/ajmg.10010.
Applications of genetics to the practices of medicine and public health are important today and will only become more compelling as our understanding of the human genome evolves. Because of a perceived lack of medical genetics professionals, it is generally believed that primary health care providers (PCPs) will need to assume prominent roles in delivering clinical genetics services. However, a number of studies indicate that most PCPs are neither well enough educated in genetics nor interested enough in becoming so to effectively contribute. Those who advocate empowering PCPs must be aware of potential problems with any approach thus far suggested for achieving this goal. Moreover, any analysis of this model must consider the potential ramifications for medical genetics professionals, patients, and families. In this article, we explore some of the unique features of the culture of medical genetics services and service providers. We discuss how important this culture is to clinical outcomes and the likelihood that its positive attributes would be preserved in a PCP model of medical genetics service delivery.
遗传学在医学和公共卫生实践中的应用如今至关重要,并且随着我们对人类基因组理解的不断深入,其重要性只会愈发凸显。由于人们认为医学遗传学专业人员短缺,普遍认为初级卫生保健提供者(PCP)将需要在提供临床遗传学服务方面发挥重要作用。然而,多项研究表明,大多数初级卫生保健提供者在遗传学方面的教育程度不够,对在这方面提高水平的兴趣也不足,难以有效发挥作用。那些主张赋予初级卫生保健提供者权力的人必须意识到,迄今为止为实现这一目标所建议的任何方法都可能存在潜在问题。此外,对这种模式的任何分析都必须考虑到对医学遗传学专业人员、患者和家庭的潜在影响。在本文中,我们探讨了医学遗传学服务文化和服务提供者的一些独特特征。我们讨论了这种文化对临床结果的重要性,以及在初级卫生保健提供者主导的医学遗传学服务模式中其积极属性得以保留的可能性。