Surh L C, Wright P G, Cappelli M, Kasaboski A, Hastings V A, Hunter A G
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Am J Hum Genet. 1995 Mar;56(3):760-8.
The most recent discoveries in molecular genetics today are rapidly incorporated into clinical practice and have resulted in an unprecedented expansion of medical options. Despite this, the impact of molecular genetics on health care services has yet to be evaluated. In order to begin this assessment, clinical genetic workload was prospectively collected from cases where molecular genetic testing was considered. Participation involved all 16 urban and outreach genetic centers regionalized to service the entire population of 10 million within the Canadian province of Ontario. Molecular genetic testing has been clinically available for > 5 years, as part of a publicly supported genetic network in which there are no direct costs to residents. Cross-sectional data were collected on 1,101 clients from 544 families involving 1,742 clinical actions relating to diseases in which molecular (DNA) tests were considered. Median times per clinical genetic action were as follows: formal counseling (60 min), case review (15 min), phone call (10 min), letter (15 min), specimen arrangement (15 min), and interpretation of molecular test results (10 min). Times varied significantly with the inheritance pattern of the disease, topics involved, and location. For any given genetic case, multiple clinical actions resulted in substantial time spent by the genetic professional. Clerical and administrative times were not captured. Workload unit measurements similar to those currently employed in hospital laboratories may be helpful for predicting the clinical resources and personnel that will be required as the use of molecular genetics by other medical specialties increases.
当今分子遗传学领域的最新发现正迅速应用于临床实践,并带来了前所未有的医疗选择扩展。尽管如此,分子遗传学对医疗服务的影响尚未得到评估。为了开展这项评估,我们前瞻性地收集了考虑进行分子遗传学检测的病例的临床遗传工作量。参与研究的包括安大略省16个城市和外展遗传中心,这些中心覆盖该省1000万人口。分子遗传学检测作为公共支持的遗传网络的一部分,已在临床上应用超过5年,居民无需承担直接费用。我们收集了来自544个家庭的1101名客户的横断面数据,这些数据涉及1742项与考虑进行分子(DNA)检测的疾病相关的临床操作。每项临床遗传操作的中位时间如下:正式咨询(60分钟)、病例审查(15分钟)、电话沟通(10分钟)、信件往来(15分钟)、样本安排(15分钟)以及分子检测结果解读(10分钟)。时间因疾病的遗传模式、涉及的主题和地点而有显著差异。对于任何给定的遗传病例,多项临床操作导致遗传专业人员花费大量时间。文书和行政时间未被记录。类似于目前医院实验室使用的工作量单位测量方法,可能有助于预测随着其他医学专业对分子遗传学的使用增加而所需的临床资源和人员。