RECOMMENDATIONS FOR STANDARDIZED HUMAN PEDIGREE NOMENCLATURE

The construction of an accurate family pedigree is a fundamental compo nent of a clinical genetic evaluation and of human genetic research. P revious surveys of genetic counselors and human genetic publications h ave demonstrated significant inconsistencies in the usage of common pe digree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenar ios such as pregnancies conceived through assisted reproductive techno logies. The Pedigree Standardization Task Force (PSTF) was organized t hrough the Professional Issues Committee of the National Society of Ge netic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on curr ent usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in hum an genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to >10 0 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigr ee nomenclature are presented here. By incorporating these recommendat ions into medical genetics professional training programs, board exami nations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigre e nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also impro ve the quality of patient care provided by genetic professionals and f acilitate communication between researchers involved with genetic fami ly studies.