Inconsistencies in pedigree symbols in human genetics publications: A need for standardization

Abstract

To determine consistency in usage of pedigree symbols by genetics professionals, we reviewed pedigrees printed in 10 human genetic and medical journals and 24 medical genetics textbooks. We found no consistent symbolization for common situations such as pregnancy, spontaneous abortion, death, or test results. Inconsistency in pedigree design can create difficulties in the interpretation of family studies and detract from the pedigree's basic strength of simple and accurate communication of medical information. We recommend the development of standard pedigree symbols, and their incorporation into genetic publications, professional genetics training programs, pedigree software programs, and genetic board examinations.

Artificial Intelligence Techniques and Pedigree Charts in Oncogenetics: Towards an Experimental Multioutput Software System for Digitization and Risk Prediction

“…As anticipated, it will be engineered as a semi-interactive tool so to allow error correction. A preliminary realization step will be the creation of a training database of hand-drawn pedigree chart symbols compliant to the standard human pedigree nomenclature recommended by the Pedigree Standardization Work Group or PSWG (formerly Pedigree Standardization Task Force, PSTF) of the National Society of Genetic Counselors (NSGC) [41][42][43][44][45]. In this standard, adopted worldwide, nomenclature and Schematically, and disregarding old-fashioned procedures based on the recognition of symbols by explicit feature calculations (as these methods are strongly dependent on the symbol shape cleanness and tend to lack sufficient robustness), the approach we will follow consists of a typical supervised scheme based on DL object detection and recognition, in which each pedigree symbol would be treated as a different class label for classification, and the model would identify which symbols are present and their spatial relationships to reconstruct the pedigree chart structure.…”

“…As anticipated, it will be engineered as a semi-interactive tool so to allow error correction. A preliminary realization step will be the creation of a training database of handdrawn pedigree chart symbols compliant to the standard human pedigree nomenclature recommended by the Pedigree Standardization Work Group or PSWG (formerly Pedigree Standardization Task Force, PSTF) of the National Society of Genetic Counselors (NSGC) [41][42][43][44][45]. In this standard, adopted worldwide, nomenclature and recommended pedigree symbols, to be used in clinical practice, publications, and electronic health records, are established.…”

Análisis de la causalidad en el estudio genético de los trastornos neuropsiquiátricos: revisión narrativa

“…Para representar los pedigríes se usan símbolos estandarizados, cada generación se representa en números romanos y dentro de cada generación, los miembros de la familia, en arábigos, los niños se listan en orden de nacimiento de izquierda a derecha. Cuando se observa una característica o trastorno y se decide estudiar la familia de esa persona, esta persona se denomina probando o caso índice y se señala con una flecha en el árbol genealógico, aunque en los reportes en la literatura no hay un consenso sobre su uso 26 .…”

The family medical history as a tool in preconception consultation

“…A pedigree is of limited utility if the symbols and abbreviations cannot be easily interpreted. By using uniform symbols, there is decreased chance of misinterpretation of patient, family, medical, and genetic information (Bennett et al 1993;Steinhaus et al 1995).…”