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 Many journals still do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature.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.
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- Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors
Journal of Genetic Counseling
Volume 17, Issue 5 , pp 424-433
- Cover Date
- Print ISSN
- Online ISSN
- Springer US
- Additional Links
- Electronic medical record
- Family history
- Genetic counseling
- National Society of Genetic Counselors
- Pedigree symbols
- Pedigree standardization
- Industry Sectors
- Author Affiliations
- 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