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美国的基因服务。

Genetic services in the United States.

作者信息

Chen H, Wertelecki W

机构信息

Department of Medical Genetics, University of South Alabama, Mobile 36688.

出版信息

Jpn J Hum Genet. 1994 Jun;39(2):275-88. doi: 10.1007/BF01876849.

Abstract

Advances in medical genetics, including mapping of human genome, improved therapy for genetic disorders, and new screening tests for carrier detection and prenatal diagnosis, have created a growing demand for clinical genetic services in the United States. Such services (diagnosis, management, and genetic counseling) received support from state, federal, and private sources and were mostly based in academic medical centers. Gradually, such programs evolved into regional or state-wide activities with an emphasis on outreach clinics. Now, an increasing number of for-profit corporations have entered into this field. Clinical genetic teams usually include clinical geneticists and other professionals with expertise in the diagnosis and management of genetic conditions and skills in information presentation and family support. The American Board of Medical Genetics, the newest member of the American Board of Medical Specialties, provides certification for five categories of genetics professionals and sets standards for training programs. Based on personal experiences from the states of Alabama and Ohio and data from the Council of Regional Networks for Genetic Services, we show and compare trends of newborn screening programs and regional genetic services. The effects of economic and social trends as they impinge on genetic services are monitored via several databases in our center.

摘要

医学遗传学的进展,包括人类基因组图谱绘制、遗传疾病治疗方法的改进以及用于携带者检测和产前诊断的新筛查测试,使得美国对临床遗传服务的需求不断增加。此类服务(诊断、管理和遗传咨询)得到了州、联邦和私人机构的支持,且大多设在学术医疗中心。渐渐地,此类项目发展成为以 outreach 诊所为重点的区域或全州范围的活动。如今,越来越多的营利性公司进入了这个领域。临床遗传团队通常包括临床遗传学家以及其他在遗传疾病诊断和管理方面具有专业知识、在信息呈现和家庭支持方面具备技能的专业人员。美国医学遗传学委员会是美国医学专业委员会的最新成员,为五类遗传学专业人员提供认证,并为培训项目设定标准。基于阿拉巴马州和俄亥俄州的个人经历以及遗传服务区域网络委员会的数据,我们展示并比较了新生儿筛查项目和区域遗传服务的趋势。通过我们中心的几个数据库监测经济和社会趋势对遗传服务的影响。

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