Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors |
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Authors: | Robin L Bennett Kathryn Steinhaus French Robert G Resta Debra Lochner Doyle |
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Institution: | (1) Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Box 357720, Seattle, WA 98195-7720, USA;(2) Division of Genetics and Metabolism, University of California, Irvine, Orange, CA, USA;(3) Hereditary Cancer Clinic, Swedish Cancer Institute, Seattle, WA, USA;(4) Genetic Services Section, Washington State Department of Health, Seattle, WA, USA |
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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 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 Many journals still do
not cite specific standards for pedigrees, but those found cited the PSTF nomenclature.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. |
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