Cole J, Conneally P M, Hodes M E, Merritt A D
J Med Genet. 1978 Feb;15(1):10-8. doi: 10.1136/jmg.15.1.10.
A written questionnaire suitable for obtaining comprehensive genetic family data was developed. The questionnaire was designed to solicit information on the name, date of birth, sex, health problems, date of death (if deceased), spouse, abortions, stillbirths, and offspring of the patient plus first, second, and some third degree relatives of the patient. The questionnaire was evaluated for its effectiveness in obtaining an accurate and complete family history. During the first phase, 77 completed questionnaires were continuously assessed, and the questionnaire was modified until the present version evolved. Using the present version, 60 completed questionnaires disclosed only 15 problems, 10 of them minor. The questionnaire was also designed in conjunction with a computer programme developed for the entry of pedigree data. This programme is part of the computer system, MEGADATS, which is used for the acquisition, storage, and manipulation of genetic family data. The questionnaire offers these advantages over the pedigree obtained at the time of the clinic visit: (1) permits consultation with other family members, (2) saves clinic time, (3) gives prior knowledge of reason for clinic appointment, (4) anamnestic infallibility, (5) time is available to check for family record linkage, (6) computer adaptability for entering pedigree data, and (7) basic format can be modified easily. A modified sample questionnaire is presented in the Appendix.
我们编制了一份适用于获取全面遗传家族数据的书面调查问卷。该问卷旨在收集患者及其一级、二级和部分三级亲属的姓名、出生日期、性别、健康问题、死亡日期（如已去世）、配偶、流产、死产和子女等信息。我们对该问卷获取准确完整家族病史的有效性进行了评估。在第一阶段，我们持续评估了77份完整问卷，并对问卷进行修改，直至形成当前版本。使用当前版本，60份完整问卷仅发现了15个问题，其中10个为小问题。该问卷还与一个为录入谱系数据而开发的计算机程序协同设计。这个程序是计算机系统MEGADATS的一部分，MEGADATS用于获取、存储和处理遗传家族数据。与门诊就诊时获取的谱系相比，该问卷具有以下优势：（1）允许与其他家庭成员协商；（2）节省门诊时间；（3）提前了解门诊预约原因；（4）记忆无误；（5）有时间检查家族记录的关联性；（6）可适应计算机录入谱系数据；（7）基本格式易于修改。附录中给出了一份修改后的问卷样本。
