Recommendations for standardized human pedigree nomenclature
- 371 Downloads
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.
Unable to display preview. Download preview PDF.
- Bennett RL, Steinhaus KA, Uhrich SB, O'Sullivan C (1993) The need for developing standardized family pedigree nomenclature.J Genet Couns 2:261–273.Google Scholar
- Frankel MS, Teich AH (1993) Ethical and legal issues in pedigree research. Report on a conference sponsored by the AAAS Committee on Scientific Freedom and Responsibility and the AAAS-ABA National Conference of Lawyers and Scientists. American Association for the Advancement of Science, Washington, DC.Google Scholar
- Galton F (1889)Natural Inheritance. London: MacMillan.Google Scholar
- Glass R, Motulsky AG, Juengst E, Squires B (1994) Ethics and the publication of clinical genetics.CBE Views 17(5): 70–71.Google Scholar
- Paris Conference (1971) Supplement (1975): Standardization in human cytogenetics. Birth Defects Original Article Series 11. Vol 9. New York: National Foundation.Google Scholar
- Resta RG (1993) The crane's foot: the rise of the pedigree in human genetics.J Genet Couns 2:235–260.Google Scholar
- Steinhaus KA, Bennett RL, Uhrich SB, Resta RG, Doyle DL, Markel DS, Vincent VA. Inconsistencies in pedigree nomenclature in human genetics publications: a need for standardization.Am J Med Genet (in press).Google Scholar