The organization and delivery of clinical genetics services.
The organization and delivery of clinical genetics services.
复制标题
临床遗传学服务的组织和提供。
DOI：
10.1016/s0031-3955(16)38259-1
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发表时间：
1992
影响因子：
2.6
通讯作者：
R. Pyeritz
中科院分区：
文献类型：
--
作者：
B. Bernhardt;R. Pyeritz
遗传学方面的进展，包括绘制人类基因组图谱、改进遗传病的治疗、认识到遗传因素在成人常见疾病中的作用，以及检测携带者和症状前诊断的新的筛选测试，增加了对临床遗传服务的需求和认识。这些服务主要集中在诊断、管理和遗传咨询方面，得到了州、省、联邦和基金会的各种资助。由于临床遗传学已经从一种仅在学术医疗中心提供的研究服务发展到在社区中广泛提供的服务，美国的服务越来越多地在各种环境中以收费服务为基础提供，包括私立医院，国家支持的外展诊所和独立的遗传学中心，而在加拿大，他们通常在大学医院工作，并享受全民保健。鉴于目前临床遗传学家和遗传咨询师的数量有限，在这十年中，新的遗传技术和知识的大部分应用将落在初级保健医生身上。
Advances in genetics, including mapping the human genome, improved therapy for genetic disorders, recognition of the role of genetic factors in common diseases of adulthood, and new screening tests for carrier detection and presymptomatic diagnosis create an increased demand for and awareness of clinical genetic services. These services, focusing on diagnosis, management, and genetic counseling, had been supported by a variety of state, provincial, federal, and foundation grants. As clinical genetics has evolved from a service with roots in research provided solely at academic medical centers to one widely available in the community, the services in the United States are increasingly provided on a fee-for-service basis in various settings including private hospitals, state-supported outreach clinics, and free-standing genetics centers, whereas in Canada they are generally based in university hospital settings and are covered by universal health care. Given the limited numbers of clinical geneticists and genetic counselors now practicing, much of the application in this decade of new genetic technologies and knowledge will fall upon primary care physicians.