Tokutomi Tomoharu, Fukushima Akimune, Yamamoto Kayono, Bansho Yasushi, Hachiya Tsuyoshi, Shimizu Atsushi
Department of Clinical Genetics, School of Medicine, Iwate Medical University, Morioka, Iwate, 020-8505, Japan.
Division of Innovation and Education, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Shiwa, Iwate, 028-3694, Japan.
BMC Med Genet. 2017 Jul 14;18(1):71. doi: 10.1186/s12881-017-0433-4.
The Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas affected by the Great East Japan Earthquake. We collected medical and genomic information for developing a biobank to be used for this healthcare system. We designed a questionnaire-based pedigree-creation software program named "f-treeGC," which enables even less experienced medical practitioners to accurately and rapidly collect family health history and create pedigree charts.
f-treeGC may be run on Adobe AIR. Pedigree charts are created in the following manner: 1) At system startup, the client is prompted to provide required information on the presence or absence of children; f-treeGC is capable of creating a pedigree up to three generations. 2) An interviewer fills out a multiple-choice questionnaire on genealogical information. 3) The information requested includes name, age, gender, general status, infertility status, pregnancy status, fetal status, and physical features or health conditions of individuals over three generations. In addition, information regarding the client and the proband, and birth order information, including multiple gestation, custody, multiple individuals, donor or surrogate, adoption, and consanguinity may be included. 4) f-treeGC shows only marriages between first cousins via the overlay function. 5) f-treeGC automatically creates a pedigree chart, and the chart-creation process is visible for inspection on the screen in real time. 6) The genealogical data may be saved as a file in the original format. The created/modified date and time may be changed as required, and the file may be password-protected and/or saved in read-only format. To enable sorting or searching from the database, the file name automatically contains the terms typed into the entry fields, including physical features or health conditions, by default. 7) Alternatively, family histories are collected using a completed foldable interview paper sheet named "f-sheet", which is identical to the questionnaire in f-treeGC.
We developed a questionnaire-based family tree-creation software, named f-treeGC, which is fully compliant with international recommendations for standardized human pedigree nomenclature. The present software simplifies the process of collecting family histories and pedigrees, and has a variety of uses, from genome cohort studies or primary care to genetic counseling.
东北医学大数据项目旨在通过对东日本大地震受灾地区的三代当地居民进行大规模基因组队列研究，创建一个下一代个性化医疗系统。我们收集了医学和基因组信息，以建立一个用于该医疗系统的生物样本库。我们设计了一个基于问卷的系谱创建软件程序，名为“f-treeGC”，即使是经验较少的医生也能准确、快速地收集家族健康史并创建系谱图。
f-treeGC可在Adobe AIR上运行。系谱图按以下方式创建：1）系统启动时，提示客户端提供有关子女情况的所需信息；f-treeGC能够创建最多三代的系谱。2）采访者填写一份关于家谱信息的多项选择题问卷。3）所需信息包括三代以上个人的姓名、年龄、性别、一般状况、不孕状况、妊娠状况、胎儿状况以及身体特征或健康状况。此外，可能包括有关客户和先证者的信息，以及出生顺序信息，包括多胎妊娠、监护权、多个个体、捐赠者或代孕者、收养和血缘关系。4）f-treeGC通过叠加功能仅显示一级表亲之间的婚姻。5）f-treeGC自动创建系谱图，并且在屏幕上实时可见图表创建过程以供检查。6）家谱数据可以原始格式保存为文件。创建/修改日期和时间可以根据需要更改，并且文件可以设置密码保护和/或以只读格式保存。为了能够从数据库中进行排序或搜索，文件名默认自动包含输入到条目中的术语，包括身体特征或健康状况。7）或者，使用一份名为“f-sheet”的已填写的可折叠采访纸来收集家族史，它与f-treeGC中的问卷相同。
我们开发了一个基于问卷的家谱创建软件，名为f-treeGC，它完全符合国际标准化人类系谱命名法的建议。本软件简化了收集家族史和系谱的过程，并且有多种用途，从基因组队列研究或初级保健到遗传咨询。
