Genetic markers for assessment of retinoblastoma predisposition

Here we provide a conceptual framework for the application of current approaches in the analysis of retinoblastoma to the clinical setting. The aim of genetic medicine is to minimize the burden of inherited disease through appropriate diagnosis and management of patients and to maximize information, so that families can make reasonable decisions about reproduction. Recent genetic, cytogenetic and molecular genetic approaches have improved our understanding of the biological events leading to the occurrence of retinoblastoma and, in addition, have provided tools for the enhanced assessment of risk for some individuals. The knowledge, however, is incomplete and the tools imperfect, as indicated by our continued provision of risk probabilities that are neither one nor zero. We therefore hope to emphasize both the scope and the limitations of these techniques so that their application can be effectively considered.