Variant Reclassification and Clinical Ramifications

Genetic test results can significantly change the route to diagnosis or the treatment available to a patient with a genetic condition. A DNA change that is detected during diagnostic genetic testing and considered to be associated with a patient’s medical condition is reported to a clinician as a genetic variant. The interpretation of a genetic variant is dependent on the evidence available at the time that a test is performed, which may change over time. The result on a genetic test report is liable to undergo “variant reclassification” giving a new genetic test result. In this paper, the authors review the current literature to explore the phenomenon of variant reclassification, how it can affect patient management and how it may affect a patient’s overall care. (By Dr Nicola Walsh, https://jmg.bmj.com/content/early/2024/01/30/jmg-2023-109488 )

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