The rapid growth in molecular genetics, the development of new targeted treatments, and the decreasing costs of next-generation sequencing (NGS) have fueled the expansion of large sequencing panels. However, the adoption of comprehensive genomic tests in the clinic is not yet widespread, with challenges such as tumor heterogeneity, drug combination implementation, and complex bioinformatics impeding its wide adoption.
The white paper from Qiagen highlights the use of the Human Somatic Mutation Database and the Human Genomic Mutation Database to optimize productivity, interpret complex genetics reports, and discriminate between actionable variants and variants of uncertain significance (VUS). These databases help clinicians to evaluate secondary findings, establish their role in the disease, and evaluate their therapeutic, prognostic, and predictive potential. Additionally, the paper emphasizes the need for periodic re-evaluation of detected variants, as their clinical impact may change over time and the importance of seeking novel information and off-label therapies for patients.
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