Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors.
Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors.
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DOI：
10.1007/s10897-008-9169-9
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发表时间：
2008-10-01
影响因子：
1.9
通讯作者：
Doyle, Debra Lochner
中科院分区：
文献类型：
--
作者：
Bennett, Robin L;French, Kathryn Steinhaus;Doyle, Debra Lochner
1995年，国家遗传咨询师协会（NSGC）的谱系标准化工作组（PSTF）提出了谱系命名系统。最近，PSTF（现称为谱系标准化工作组或 PSWG）寻求证据，证明已发布的符号满足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使用。我们检索了 PubMed 和选定出版物的参考文献列表，查阅了几种期刊的作者须知，检索了专业协会的网站，征求 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，但那些被发现引用了 PSTF 命名法的期刊。我们没有发现对 1995 年命名法的重大异议或替代方案。根据我们的审查，我们仅建议对谱系符号进行一些细微的风格更改。 NSGC 的谱系命名法是唯一一致公认的绘制家族健康史的标准。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，并遵守不断发展的道德和隐私标准。所有卫生专业人员、受训人员和研究人员都应了解在临床实践和出版中使用通用谱系命名法的实用性。随着电子病历的使用越来越广泛，这一点将变得尤为重要。
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 Many journals still do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature.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.