General Approach To Evaluating The Utility Of Genetic Panels

Genetic panel testing offers potential advantages and disadvantages compared with direct sequence analysis. This conceptual framework outlines a structure for evaluating the utility of genetic panels, by classifying them into clinically relevant categories and developing criteria for evaluating panels in each category. Genetic panels using next-generation technology or chromosomal microarray analysis are available for many clinical conditions. The major advantage of panels is the ability to analyze many genes simultaneously, potentially improving the breadth and efficiency of the genetic workup. A potential disadvantage of panels is that they provide a large of amount of ancillary information whose significance may be uncertain. Limited published evidence has reported that the analytic validity of panels approaches that of direct sequencing. The clinical validity and clinical utility of panels are condition-specific. The clinical validity of panels will reflect the clinical validity of the underlying individual variants. The clinical utility of panels will depend on the context in which they are used, ie, whether the advantages of panel testing outweigh the disadvantages for the specific condition under consideration. Panels can be classified into categories based on their intended use and composition. For each category of panels, specific criteria can be used to evaluate medical necessity. When all criteria for a given category are met, that panel may be considered medically necessary.