Journal of Genetic Counseling

, Volume 4, Issue 4, pp 267–279 | Cite as

Recommendations for standardized human pedigree nomenclature

  • Robin L. Bennett
  • Kathryn A. Steinhaus
  • Stefanie B. Uhrich
  • Corrine K. O'Sullivan
  • Robert G. Resta
  • Debra Lochner-Doyle
  • Dorene S. Markel
  • Victoria Vincent
  • Jan Hamanishi
Article

Abstract

The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to >100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.

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References

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Copyright information

© National Society of Genetic Counselors, Inc. 1995

Authors and Affiliations

  • Robin L. Bennett
    • 1
  • Kathryn A. Steinhaus
    • 2
  • Stefanie B. Uhrich
    • 3
  • Corrine K. O'Sullivan
    • 8
  • Robert G. Resta
    • 4
  • Debra Lochner-Doyle
    • 5
  • Dorene S. Markel
    • 6
  • Victoria Vincent
    • 7
  • Jan Hamanishi
    • 3
  1. 1.Division of Medical GeneticsUniversity of Washington Medical CenterSeattle
  2. 2.Division of Human GeneticsUniversity of California at IrvineOrange
  3. 3.Obstetrics and GynecologyUniversity of Washington Medical CenterSeattle
  4. 4.Center for Perinatal StudiesSwedish Medical CenterSeattle
  5. 5.Genetics Services SectionDepartment of HealthSeattle
  6. 6.Human Genome CenterUniversity of MichiganAnn Arbor
  7. 7.Division of GeneticsUniversity of South Carolina School of MedicineColumbia
  8. 8.Medical Genetics, RG-25University of Washington Medical CenterSeattle

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