Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors
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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 Many journals still do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature.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.
KeywordsElectronic medical record Family history Genetic counseling National Society of Genetic Counselors Pedigree symbols Pedigree standardization
The pedigree symbols and abbreviations are revised with permission from Cell Press and were originally published in Bennett, R. L. et al. (1995). Recommendations for standardized pedigree nomenclature. American Journal of Human Genetics, 56, 745–752. Meetings and conference calls of the PSWG were supported by grants from the National Society of Genetic Counselors, the University of Washington Division of Medical Genetics. The Mamafest gift fund of University of Washington Division of Medical Genetics provided support for graphic artist Christine Symonds. The Board of Directors of the National Society of Genetic Counselors reviewed and approved the revisions to the pedigree nomenclature on October 16, 2007. The pedigree symbols in the figures were formatted using Adobe InDesign CS2. None of the authors received financial compensation for their work. The meetings regarding Core Elements of the Pedigree in the Electronic Medical Record were supported in part by Project # H61MC00219 from the Maternal and Child Health Bureau (Title V, Social Security Act), Health Resources and Services Administration, Department of Health and Human Services.
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