Open access
Sep 2026
An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders.
PURPOSE Functional genomics (FG) approaches, such as RNA-seq and proteomics, offer a complementary diagnostic modality for individuals whose cases remain unsolved after genomic sequencing. This study evaluates the cost-effectiveness and cost-benefit of FG for individuals with suspected monogenic disorders relative to m...
Francisco Santos Gonzalez, Ellenore M. Martin, Madeleine Harris et al.
· Genetics in Medicine · 0 citations