Can adding RNA sequencing to germline genetic testing improve accuracy and clinical sensitivity over time compared to DNA sequencing alone?

By Dr. Sushama R. Chaphalkar, PhD.Nov 8 2023Reviewed by Lily Ramsey, LLM In a recent study published in the Journal of American Medical Association Oncology, researchers from California investigated the diagnostic outcomes of concurrent sequencing of deoxyribonucleic acid and ribonucleic acid to detect the predisposition to hereditary cancer in 43,524 individuals.

An increasing amount of evidence suggests that specific systemic therapy in individuals with germline pathogenic variants may be effective in high-risk patients, including those with a familial history of cancer. Related StoriesAbout 65.1% of these individuals had a history of cancer, with breast cancer being the most common type, followed by colorectal and ovarian cancer. The cohort included participants from the following races: Ashkenazi Jewish, Asian, Black, Hispanic, non-Hispanic White, and others.

The splicing impact of variants was predicted using in silico modeling via SpliceAI. The percent splicing index and number/type of splicing events were measured in patients compared to control data to identify abnormal transcripts.

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