Doctors reading reports in the hospital.
Two doctors working together on paperwork.

Clinical actionability, or the determination of whether clinical action should be taken based on heterogeneous information generated by cancer genomic analysis, remains a key challenge for scientists and clinicians.

Rodrigo Dienstmann, M.D., et al., writing in Molecular Oncology in 2014 (“Standardized decision support in next generation sequencing reports of somatic cancer variants”), noted that hundreds to thousands of somatic mutations exist in each cancer genome.  Many of these variants have well-established biological and clinical relevance and are putative targets of molecular therapy. But the author said most variants have no known significance, greatly complicating clinical decision making. 

While investigators say that it remains unclear how and to what extent these variants may affect clinical decision making, work continues in multiple laboratories to develop platforms to identify potentially actionable DNA alterations in tumor samples. These laboratories, usually at major cancer clinical centers, have devoted significant resources to optimizing sophisticated deep-sequencing platforms and bioinformatics power to connect the dots between genomic variations and potential actionability.

Andrea Desmond and colleagues at the Massachusetts General Hospital, Harvard, Stanford, and Beth Israel Deaconess Hospitals investigated how often multigene panel testing would identify clinically actionable mutations among patients tested for, but lacking BRCA1 and BRCA 2 mutations.

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