Chemotherapy is the standard care for the treatment of non-small cell lung carcinoma (NSCLC) patients, however most of non-small cell lung cancer tumours are not sensitive to this treatment. As an alternative to chemoterapy, target therapy with gefitinib (epidermal growth factor receptor-tyrosine kinase inhibitor) has been used in clinical practice in patients with tumours harbouring mutations in EGFR gene, improving their treatment effectiveness. For that reason EGFR mutations analysis should be perform to support the treatment decision for a patient with NSCLC. Despite all the foreseen benefits of EGFR genotyping, the current PCR-based methods used have been shown some associated bottlenecks:
i) use of complex samples (tumour biopsy embedded in Formalin Fixed Paraffin, FFPE);
ii) require a better understanding from the clinical geneticist to accurately interpret the information provided and to setup the best line of therapy and treatment;
iii) the assays are quite expensive and time-consuming.
New age diagnostic tools, such as microfluidic platforms and nanodiagnostics are emerging technologies for DNA analysis requiring lower sample volumes and providing comparable sensitivity and specificity at lower costs. Nonetheless, sample preparation and detection of the result of a chemical analysis on-chip are still weak points in many lab-on-a-chip devices. The current proposal, aiming the integration of “all laboratory-based process steps” in one single step, is both challenging and feasible: development of a microfluidic chip that combines blood sample processing (DNA extraction/purification, multiplex amplification) and detection of EGFR mutations in tumour DNA by means of gold and silver-nanoparticles (Ag and Au-nanoprobes). Furthermore a microfluidic chip analyser with an integrated user-friendly software to report genotyping results will be developed.