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J Genet Counsel (2008) 17:424–433 DOI 10.1007/s10897-008-9169-9


Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors
Robin L. Bennett & Kathryn Steinhaus French & Robert G. Resta & Debra Lochner Doyle

Received: 12 April 2008 / Accepted: 29 May 2008 / Published online: 16 September 2008 #National Society of Genetic Counselors, Inc. 2008

Abstract 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 intohealth 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 Many journalsstill do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature.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
R. L. Bennett (*) Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Box 357720,Seattle, WA 98195-7720, USA e-mail: K. S. French Division of Genetics and Metabolism, University of California, Irvine, Orange, CA, USA R. G. Resta Hereditary Cancer Clinic, Swedish Cancer Institute, Seattle, WA, USA D. L. Doyle Genetic Services Section, Washington State Department of Health, Seattle, WA, USA

pedigree nomenclature of the NSGC is the only consistentlyacknowledged 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. Keywords Electronic medical record . Family history . Genetic counseling . National Society of Genetic Counselors . Pedigree symbols . Pedigree standardizationIntroduction A medical pedigree is a graphic presentation of a family’s health history and genetic relationships and it has been a pivotal tool in the practice of medical genetics for nearly a century (Bennett 1999; Resta 1993). With the mapping of the human genome and the increasing role of genetics in daily medical practice, recording and interpreting a pedigree should be a standard competency of allhealth professionals (Bennett 1999; Center for Disease Control 2008; HHS 2008; NCHPEG 1995). In the early 1990s, the National Society of Genetic Counselors Pedigree Standardization Task Force (NSGC PSTF) documented that even genetics professionals were using an inconsistent array of symbols and nomenclature to record pedigrees (Bennett et al. 1993; Steinhaus et al. 1995).

Update ofStandardized Pedigree Nomenclature

425 Table 1 Examples of Journals, Text and Reference Books Which Include the National Society of Genetic Counselors Standard Pedigree Nomenclature General reference AMA Manual of Style. A Guide for Authors and Editors, 10th Edition (2007) Journals American Journal of Medical Genetics American Journal of Human Genetics Genetics in Medicine Journal of Genetic Counseling...
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