From precision medicine to imprecision medicine through limited diagnostic ability to detect low allelic frequency mutations

Abstract

Routine molecular testing in NSCLC is currently moving beyond the classical EGFR mutational analysis and the evolving technologies such as NGS or ddPCR, with superior sensibilities but also multiplexing capabilities, allow the evaluation of greater number of mutations/genes and thus, impact on disease management. The continuous progress of targeted therapies requires molecular testing for a wider panel of mutations and different technologies sensitive enough for mAF to be able to integrate personalized molecular diagnosis in the different Pathology departments. As a consequence, efficient testing of multiple molecular abnormalities is an urgent requirement in thoracic oncology not only for an efficient treatment administration but also for an improvement of the cost-benefit balance. Therefore, it is mandatory that numerous research groups tackle this challenge combining efforts to increase population sizes, homogenize protocols and standardize technologies so the 5 pillars of PM are translated into a reality in the clinical practice.