Mark H F, Kelly T, Watson M S, Hoeltge G, Miller W A, Beauregard L
Laboratory of Cytogenetics, FISH and Genotoxicology, Rhode Island Hospital, Providence 02903, USA.
J Med Genet. 1995 Oct;32(10):780-6. doi: 10.1136/jmg.32.10.780.
As genetic testing is an area with implications extending far beyond that of the primary patient, it is appropriately an area that is under increased scrutiny. To ensure that high quality is maintained in the delivery of genetic services, several agencies have developed standards and guidelines. The present article summarises important recommendations made by the American College of Medical Genetics (ACMG), the College of American Pathologists (CAP), the US Health Care Financing Administration (HCFA), and the US Food and Drug Administration (FDA) as they relate to genetic testing. Some of the standards are based on voluntary compliance, whereas others have the force of regulation. They all address issues of personnel credentials, laboratory operations, and the most critical quality assurance and control measures for diagnostic laboratories from the perspective of various agencies. In most instances, the standards promulgated by these agencies are offered as minimum criteria. The exact impact of these regulations on the practice of medical genetics has yet to be established.
由于基因检测这一领域的影响远远超出了主要患者的范围，因此它理所当然地成为了一个受到越来越多审查的领域。为确保基因服务的提供维持高质量，多个机构已经制定了标准和指南。本文总结了美国医学遗传学学会（ACMG）、美国病理学家学会（CAP）、美国医疗保健财务管理局（HCFA）和美国食品药品监督管理局（FDA）就基因检测提出的重要建议。其中一些标准基于自愿遵守，而其他标准则具有监管效力。它们都从不同机构的角度解决了人员资质、实验室操作以及诊断实验室最关键的质量保证和控制措施等问题。在大多数情况下，这些机构颁布的标准被作为最低标准。这些法规对医学遗传学实践的确切影响尚未确定。
