Research indicates adding RNA sequencing to germline genetic testing could improve accuracy and clinical sensitivity, compared to DNA sequencing alone.
In this study, which included 43,524 individuals undergoing hereditary cancer testing, RNA sequencing was associated with increased diagnostic positive yield and decreased inconclusive rate of multigene panel testing for germline cancer predisposition.
RNA-dependent classifications were made in 17.1% of splicing variants classified as pathogenic (1.9% of any variant classified as pathogenic), and 71.1% of splicing variants of uncertain significance (2.1% of any variants of uncertain significance) resolved as benign.
The authors concluded: “[The] findings of this diagnostic study demonstrate that the ability to perform RNA sequencing concurrently with DNA sequencing represents an important advancement in germline genetic testing.”
Image credit | Shutterstock
