Bennett Robin L, French Kathryn Steinhaus, Resta Robert G, Doyle Debra Lochner
Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Box 357720, Seattle, WA 98195-7720, USA.
J Genet Couns. 2008 Oct;17(5):424-33. doi: 10.1007/s10897-008-9169-9. Epub 2008 Sep 16.
In 1995, the Pedigree Standardization Task Force (PSTF) of the National Society of Genetic Counselors (NSGC) proposed a system of pedigree nomenclature. Recently, the PSTF (now called the Pedigree Standardization Work Group or PSWG) sought evidence that the published symbols met the needs of health professionals, were incorporated into health professional training and were utilized in publications. We searched PubMed and reference lists of select publications, reviewed the Instructions for Authors of several journals, searched the websites of professional societies, sought comment from the membership of the NSGC, and looked at recommendations and training practices of various health professional organizations. Many journals still do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature. We did not find significant objections or alternatives to the 1995 nomenclature. Based on our review, we propose only a few minor stylistic changes to the pedigree symbols. The pedigree nomenclature of the NSGC is the only consistently acknowledged standard for drawing a family health history. We recommend regular and continued review of these pedigree standards to determine if additional symbols are needed to accommodate changes in clinical practice to ensure that the symbols continue to meet the needs of health professionals and researchers as well as adhere to evolving ethical and privacy standards. All health professionals, trainees, and researchers should be made aware of the utility of using a common pedigree nomenclature in clinical practice and publication. This will become particularly important as electronic medical records become more widely utilized.
1995年，美国国家遗传咨询师协会（NSGC）的谱系标准化特别工作组（PSTF）提出了一套谱系命名系统。最近，PSTF（现称为谱系标准化工作组或PSWG）寻找证据，以证明已发布的符号满足了卫生专业人员的需求，已纳入卫生专业人员培训并在出版物中得到使用。我们检索了PubMed和精选出版物的参考文献列表，查看了几本期刊的作者须知，搜索了专业协会的网站，征求了NSGC成员的意见，并研究了各种卫生专业组织的建议和培训实践。许多期刊仍然没有引用谱系的具体标准，但已发现的那些期刊引用了PSTF的命名法。我们没有发现对1995年命名法有重大异议或替代方案。基于我们的审查，我们仅对谱系符号提出一些细微的样式更改。NSGC的谱系命名法是绘制家族健康史唯一一直被认可的标准。我们建议定期持续审查这些谱系标准，以确定是否需要额外的符号来适应临床实践的变化，以确保这些符号继续满足卫生专业人员和研究人员的需求，并遵守不断发展的伦理和隐私标准。所有卫生专业人员、学员和研究人员都应意识到在临床实践和出版物中使用通用谱系命名法的效用。随着电子病历的更广泛使用，这将变得尤为重要。
