Gene-Disease Validity Assessments in Hereditary Cancer Testing

This white paper discusses the Gene-Disease Validity (GDV) scoring system, which evaluates the strength of associations between specific genes and diseases, particularly in hereditary cancer testing. It outlines the importance of GDV in clinical decision-making and genetic testing, categorizing gene-disease relationships into tiers based on scientific evidence. The paper highlights the evolution of clinical genetic testing through next-generation sequencing (NGS) technologies and the challenges posed by including genes with limited GDV in multi-gene panel tests (MGPT). It emphasizes the necessity for established guidelines to determine gene inclusion in MGPTs and the implications of uncertain gene-disease associations for patient care. The document also presents a case study illustrating the assessment process and the significance of accurate GDV for reliable genetic testing outcomes. Furthermore, it discusses the role of clinicians in providing comprehensive information to enhance GDV accuracy and the ongoing need for rigorous research to validate gene-disease relationships.