A framework for the evaluation and reporting of incidental findings in clinical genomic testing | European Journal of Human Genetics (nature.com)
Currently, there are no widely accepted recommendations in the genomics field guiding the return of incidental findings (IFs), defined here as unexpected results that are unrelated to the indication for testing. Consequently, reporting policies for IFs among laboratories offering genomic testing are variable and may lack transparency. Herein we describe a framework developed to guide the evaluation and return of IFs encountered in probands undergoing clinical genome sequencing (cGS). The framework prioritizes clinical significance and actionability of IFs and follows a stepwise approach with stopping points at which IFs may be recommended for return or not.
Environmental Analytical Analytical Mass Spectrometrist at National High Magnetic Field Laboratory
3moHuan Chen