How to Write and Interpret a Genetic Report

A genetic report provides extensive information about an individual’s genetic alterations that may influence their health, assisting in diagnosis, risk assessment, and treatment planning. To interpret the report accurately, start by verifying the patient’s details and identifying the type of genetic test performed. When analysing or interpreting a genetic variant, take into account its classification (pathogenic, likely pathogenic, variant of uncertain significance (VUS), or benign), its type, and its frequency within the population. Evaluate the evolutionary conservation of the variant and its predicted impact on protein function. Review the clinical evidence and determine whether the variant segregates with the disease in the family. It is also important to correlate findings with the patient’s phenotype and inheritance pattern. Consider functional studies, the population background, and whether the variant is germline or somatic to assess its clinical significance. Finally, reflect on the recommended follow-up actions and understand the limitations of the test to fully grasp the report’s implications for patient management.