Opinion
Video
The Why and When of Molecular Testing in AML
Panelists stress that timely and accurate diagnosis of KMT2A-rearranged acute myeloid leukemia (AML) is essential for personalized treatment planning, highlighting the need to overcome systemic delays in molecular testing, foster academic-community collaboration, and educate both clinicians and patients on the safety and importance of waiting for complete genetic data before initiating therapy.
Timely and accurate diagnosis of KMT2A-rearranged AML is critical, yet there are several barriers across health care settings that hinder this process. A common challenge is the outdated perception that treatment must begin immediately upon diagnosis, when in fact, understanding the molecular and cytogenetic profile is essential to guiding optimal therapy. Waiting a few days to obtain full genetic results is not only safe in most cases but increasingly necessary as frontline treatments are becoming more personalized. To support this, testing for cytogenetics, fluorescence in situ hybridization, and next-generation sequencing should be a standard component of the initial workup for all patients.
Access to timely diagnostics remains uneven between academic centers and community settings. Some community practices experience delays in obtaining comprehensive test results, sometimes waiting weeks, which could limit therapeutic options early in a patient’s course. A collaborative model—where patients may be referred briefly to larger centers for rapid molecular testing before returning to the community for treatment—could help bridge this gap. There is also an educational component: clinicians must reassess prior test failures or incomplete panels, especially in relapsed settings where targetable mutations may have been previously undetected.
For patients, the process can be overwhelming, particularly when told that treatment will be delayed for testing. But with thoughtful communication—explaining the biology of AML, the rationale behind waiting for precise test results, and the importance of personalized treatment—patients generally understand the need. It is also essential to stress that some interventions, like hydroxyurea or low-dose cytarabine, can be used to stabilize high white counts during this waiting period. Additionally, ongoing minimal residual disease testing, although often met with resistance due to repeated bone marrow biopsies, is becoming vital in monitoring disease response and guiding long-term management.
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