About The Study: The findings of this diagnostic study including 43,000 individuals undergoing hereditary cancer testing demonstrate that the ability to perform RNA sequencing concurrently with DNA sequencing represents an important advancement in germline genetic testing by improving detection of novel variants and classification of existing variants. This expands the identification of individuals with hereditary cancer predisposition and increases opportunities for personalization of therapeutics and surveillance.
Authors: Rachid Karam, M.D., Ph.D., of Ambry Genetics in Aliso Viejo, California, is the corresponding author.
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(doi:10.1001/jamaoncol.2023.5586)
