Ottman R, Susser M
G. H. Sergievsky Center, School of Public Health, Columbia University, New York, NY 10032.
J Clin Epidemiol. 1992 Jul;45(7):721-7. doi: 10.1016/0895-4356(92)90049-s.
A large-scale study of genetic influences on seizure disorders is described here as a primer of tested methods for collection of family history data. 1957 adult probands with epilepsy were ascertained from voluntary organizations. Personal and family history data were obtained from probands in semistructured telephone interviews. To increase sensitivity, an independent family history was obtained from a second family informant in a similar interview. To increase specificity and diagnostic detail, family members reported to be affected were interviewed, and medical records of probands and affected relatives were collected. Participation rates for probands were 84-90%. Interviews were completed with second informants in 67% of families, and with 51% of eligible affected relatives. The main reasons for non-interview were lack of permission from probands and difficulties in locating relatives. Although 90% of probands gave verbal permission for medical record review, only 75% of these signed and returned consent forms for this purpose. Physicians returned 87% of the records requested. The resulting proportion of probands with medical records was 59%. These findings illustrate the complexity involved in assembling useful databases in genetic epidemiology.
本文介绍了一项关于癫痫症遗传影响的大规模研究，作为收集家族病史数据的经过验证的方法的入门指南。从志愿组织中确定了1957名患有癫痫的成年先证者。通过半结构化电话访谈从先证者那里获取个人和家族病史数据。为了提高敏感性，在类似访谈中从第二位家族信息提供者那里获取独立的家族病史。为了提高特异性和诊断细节，对报告受影响的家庭成员进行访谈，并收集先证者和受影响亲属的医疗记录。先证者的参与率为84% - 90%。在67%的家庭中与第二位信息提供者完成了访谈，与51%符合条件的受影响亲属完成了访谈。未进行访谈的主要原因是先证者未给予许可以及难以找到亲属。尽管90%的先证者口头同意查阅医疗记录，但其中只有75%为此签署并返还了同意书。医生返还了87%所要求的记录。最终有医疗记录的先证者比例为59%。这些发现说明了在遗传流行病学中构建有用数据库所涉及的复杂性。
