Nucleic Acid Amplification-Based Diagnostics for Pulmonary Diseases: What Is the Current State and Perspectives of Nucleic Acid Amplification Technologies Used in Diagnostics Associated with Pulmonary Diseases?

Rapid advances of genomic technologies in medical sciences resulted in growth of identified molecular biomarkers, including those required for proper drug administration and therapy selection in pulmonary diseases. While high-throughput technologies are powerful tool for wide screening, targeted real-time monitoring using nucleic acid amplification is still the most important method for DNA and RNA detection widely employed in clinical diagnostics. In this chapter, we overview the key nucleic acid amplification platforms successfully used in the clinical diagnostics, including that associated with pulmonary diseases, and briefly outline their advantages and pitfalls. We further focus on the specific isothermal amplification technology SmartAmp and Eprobes developed by RIKEN outlining its implementation in quick and robust detection of several clinically important SNP and cancer-associated somatic mutations. Finally, we describe the further potential of expansion of utilization of Eprobes platform for direct protein detection for clinical diagnostic needs.