Clinical decision-making strategies for rare somatic variants in cancer

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    For patients with cancer, new drugs are available that specifically target tumor cells with certain DNA alterations (also called somatic variants). These innovative drugs offer new promising treatment opportunities referred to as precision medicine. This requires advanced molecular diagnostic techniques to perform an in-depth profiling of DNA alterations of each patient’s tumor by clinical scientists in molecular pathology. Using this molecular information, pathologists can reach a more appropriate diagnosis and oncologists can treat patients with drugs that exploit the cancer’s vulnerabilities. However, molecular testing results are increasingly difficult to interpret, which can influence the diagnosis or treatment decision. Bart Koopman explored such complex results from routine molecular diagnostics and investigated strategies that can be used to improve decision-making.

    Koopman compared Dutch Molecular Tumor Boards (MTB) in the Netherlands, multidisciplinary collections of experts that provide (treatment) recommendations for cancer patients with challenging molecular testing results. This revealed that MTBs were similar in setup, and demonstrate high agreement in treatment recommendations for challenging cases, with favorable treatment outcomes. In addition, Koopman investigated how rare somatic variants affect decision-making using real-world data from the Dutch Pathology registry. This included current needs for optimization of diagnostic testing algorithms, diagnostic considerations that succeed detection of a rare variant, the utility of classifying actionability and the interpretation of resistance mechanisms. His research also revealed points of improvement for which consensus guidances were proposed for the optimization and harmonization of somatic variant interpretation and clinical decision-making to ensure that all patients receive appropriate treatment options.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    • Groen, Harry, Supervisor
    • Schuuring, Ed, Supervisor
    • van Kempen, Leon, Co-supervisor
    Award date18-May-2022
    Place of Publication[Groningen]
    Publication statusPublished - 2022

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