Bennett R L, Steinhaus K A, Uhrich S B, O'Sullivan C K, Resta R G, Lochner-Doyle D, Markel D S, Vincent V, Hamanishi J
Division of Medical Genetics, University of Washington Medical Center, Seattle 98195.
Am J Hum Genet. 1995 Mar;56(3):745-52.
The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to > 100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.
构建准确的家系图谱是临床基因评估和人类基因研究的基本组成部分。先前对基因咨询师和人类基因出版物的调查表明，在表示怀孕、终止妊娠、流产和收养等情况以及通过辅助生殖技术受孕等不太常见情况的常用家系符号的使用上存在显著不一致。家系标准化特别工作组（PSTF）是通过美国国家基因咨询师协会专业问题委员会组建的，目的是制定人类家系命名通用标准的建议。命名是基于当前的使用情况、符号之间的一致性、计算机兼容性以及符号反映人类遗传学快速技术进步的适应性来选择的。初步建议在三次人类基因专业人员全国会议上进行了展示以供审查，并发送给100多名人类基因专业人员进行审查。基于这一审查过程，本文展示了PSTF关于标准化人类家系命名的建议。通过将这些建议纳入医学遗传学专业培训项目、委员会考试、基因出版物和家系软件中，可以开始采用统一的家系命名。使用标准化家系命名将减少对患者及家族医学和基因信息错误解读的可能性。它还可能提高基因专业人员提供的患者护理质量，并促进参与基因家族研究的研究人员之间的交流。
