Opinion
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Delays in Detection and the Impact on Access to Targeted Therapy
Panelists highlight that despite established guidelines, delays and gaps in molecular profiling—especially for KMT2A rearrangements—persist due to report complexity, misinterpretation, and misconceptions about patient eligibility, underscoring the urgent need for improved provider education, expert collaboration, and comprehensive testing to ensure accurate diagnosis, optimal treatment selection, and better patient outcomes in acute myeloid leukemia (AML).
Despite widespread awareness that molecular profiling is essential in AML, delays and gaps in testing persist—especially for identifying KMT2A rearrangements. Although standard of care guidelines support comprehensive genetic analysis at diagnosis, testing is often skipped or not fully interpreted, particularly in community settings or for older, less fit patients. A major barrier is the complexity of reports: results may be labeled in multiple, inconsistent ways—such as “MLL,” “translocation 9;11,” or specific fusion partners—making it difficult for providers unfamiliar with these nuances to recognize a KMT2A rearrangement. Establishing close communication with pathologists and utilizing expert review can help ensure that key findings are not overlooked.
Another barrier is the assumption that genetic testing will not alter the clinical course for certain patients, such as older individuals or those deemed unfit for intensive therapy. However, this approach can lead to inappropriate treatment choices and missed opportunities to use emerging targeted therapies. Even in cases with lower blast counts or ambiguous pathology, molecular testing can clarify the diagnosis, identify actionable targets, and significantly impact prognosis and therapeutic direction. The misconception that patients without intensive options will not benefit from this information is a clinical misstep that needs to be corrected through ongoing provider education.
The consequences of delayed or missed molecular profiling are profound. It can lead to misclassification of disease (eg, labeling AML as high-risk MDS), missed access to effective targeted agents, and inaccurate prognostic counseling. Comprehensive testing should be viewed not only as a diagnostic necessity but also as a tool for predicting therapeutic response and guiding life planning. In a landscape where AML is increasingly defined by its genetic underpinnings, early and accurate identification of mutations like KMT2A rearrangements is critical to ensure patients receive the most appropriate, effective care.
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