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 Many journals still do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature.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.
This is a preview of subscription content, access via your institution.
Adult Society.com. Retrieved 10-16-2007, from http://www.adult-society.com/transgender.html.
American Medical Association (2007). AMA manual of style: a guide for authors and editors (pp. 660–666, 10th ed.). New York: Oxford University Press.
American Society of Clinical Oncologists (2004). ASCO curriculum: Cancer genetics and cancer predisposition (pp. 3–7, 2nd ed.). Alexandria, VA: ASCO.
Bennett, R. L. (1999). The practical guide to the genetic family history. New York: Wiley.
Bennett, R. L. (2000). Pedigree parables. Clinical Genetics, 58, 241–249 doi:10.1034/j.1399-0004.2000.580401.x.
Bennett, R. L. (2006a). Genetic counseling. In M. S. Runge, & W. C. Patterson (Eds.), Principles of molecular medicine (pp. 46–52, 2nd ed.). Totowa, New Jersey: Humana Press.
Bennett, R. L. (2006b). Genetic counseling. In D. R. Lynch (Ed.). Neurogenetics: scientific and clinical advances (pp. 32–34). New York: Taylor Francis.
Bennett, R., Lochner Doyle, D., Harrison, T., Byers, P. (2007). Core elements of the pedigree in the era of electronic medical records. Journal of Genetic Counseling, 16, 687 Cooper, S. and Austin, J., Presented Abstracts from the twenty-sixth annual education conference of the National Society of Genetic Counselors, Kansas City, Missouri, October 2007. doi:10.1007/s10897-007-9100-9
Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., & O’Sullivan, C. (1993). The need for developing standardized family pedigree nomenclature. Journal of Genetic Counseling, 2, 261–273. doi:10.1007/BF00961575.
Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., O’Sullivan, C., Resta, R. G., Doyle, D. L., et al. (1995). Recommendations for standardized pedigree nomenclature. American Journal of Human Genetics, 56, 745–752.
Botkin, J. R., McMahon, W. M., Smith, K. R., & Nash, J. E. (1998). Privacy and confidentiality in the publication of pedigrees: a survey of investigators and biomedical journals. Journal of the American Medical Association, 279, 1808–1812 doi:10.1001/jama.279.22.1808.
Byers, P. H., & Ashkenas, J. (1998). Pedigree—publish? Or perish the thought? American Journal of Human Genetics, 63, 678–681 doi:10.1086/302033.
Firth, H. V., Hurst, J. A., & Hall, J. G. (2005). Oxford desk reference: clinical genetics (p. 674). New York: Oxford University Press.
Galton, F. (1889). Natural inheritance (p. 249). London: Macmillian.
Genetic Nursing Credentialing Commission. Retrieved 10-16-2007, from http://www.geneticnurse.org [home].
Jenkins, J., & Calzone, K. A. (2007). Establishing the essential nursing competencies for genetics and genomics. Journal of Nursing Scholarship, 39, 10–16 doi:10.1111/j.1547-5069.2007.00137.x.
Kingston, H. M. (2007). Genetic Assessment and pedigree analysis. In D. L. Rimoin, J. M. Connor, R. E. Pyeritz, & B. R. Korf (Eds.), Emery and Rimoin’s principles and practice of medical genetics (pp. 520–522, 5th ed.). Philadelphia: Elsevier.
LeRoy, B. S., & Walker, A. P. (2002). Genetic counseling: history, risk assessment, strategies and ethical considerations. In R. A. King, J. Rotter, & A. H. Motulsky (Eds.), The genetic bases of common disease (pp. 87–101, 2nd ed.). New York: Oxford University Press.
National Coalition of Health Professionals Education in Genetics (NCHPEG) (1995). Core competencies in genetics for all health professionals. Retrieved 10-16-2007, from http://www.nchpeg.org/core/corecomps2005.pdf.
Nukaga, Y., & Cambrosio, A. (1997). Medical pedigrees and the visual production of family disease in Canadian and Japanese genetic counselling practice. In M. Elston (Ed.). The sociology of medical science & technology (pp. 29–55). Malden, MA: Blackwell.
Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2007). Thompson and Thompson, genetics in medicine (pp. 117–118, 7th ed.). Philadelphia: Saunders Elsevier.
Offitt, K., Groeger, E., Turner, S., Wadsworth, B. A., & Weiser, M. A. (2004). The “duty to warn” a patient’s family members about hereditary disease risk. Journal of the American Medical Association, 292, 1469–1473 doi:10.1001/jama.292.12.1469.
Preview, S.C.O.P.U.S. Retrieved 10-16-2007, from http://www.scopus.com.
Resta, R. G. (1993). The crane’s foot—the rise of the pedigree in human genetics. Journal of Genetic Counseling, 2, 235–260. doi:10.1007/BF00961574.
Schuette, J. L., & Bennett, R. L. (1998). Lessons in history: obtaining the family history and constructing a pedigree. In D. L. Baker, J. L. Schuette, & W. R. Uhlmann (Eds.), Lessons in history: obtaining the family history and constructing a pedigree A guide to genetic counseling (pp. 27–54). New York: Wiley–Liss.
Steinhaus, K. A., Bennett, R. L., Uhrich, S. B., Resta, R. G., Doyle, D. L., Markel, D., et al. (1995). Inconsistencies in pedigree nomenclature in human genetics publications: a need for standardization. American Journal of Medical Genetics, 56, 291–295 doi:10.1002/ajmg.1320560314.
Turnpenny, P., & Ellard, S. (2007). Emery’s elements of medical genetics (p. 104, 13th ed.). Churchill Livingston: Elsevier.
Vilain, E., Achermann, J. C., Eugster, E. A., Harley, V. R., Morel, Y., Wilson, J. D., et al. (2007). We used to call them hermaphrodites. Genetics in Medicine, 9, 67–73 doi:10.1097/GIM.0b013e31802cffcf.
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.
About this article
Cite this article
Bennett, R.L., French, K.S., Resta, R.G. et al. Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors. J Genet Counsel 17, 424–433 (2008). https://doi.org/10.1007/s10897-008-9169-9
- Electronic medical record
- Family history
- Genetic counseling
- National Society of Genetic Counselors
- Pedigree symbols
- Pedigree standardization