Abstract
Personalized medicine is a developing field of medicine that has gained in importance in recent decades. New diagnostic tests based on the analysis of circulating cell-free DNA (cfDNA) were developed as a tool of diagnosing different cancer types. By detecting the subpopulation of mutated DNA from cancer cells, it is possible to detect the presence of a specific tumour in early stages of the disease. Mutation analysis is performed by quantitative polymerase chain reaction (qPCR) or the next generation sequencing (NGS), however, cfDNA protocols need to be modified carefully in preanalytical, analytical, and postanalytical stages. To further improve treatment of cancer the Food and Drug Administration approved more than 20 companion diagnostic tests that combine cancer drugs with highly efficient genetic diagnostic tools. Tools detect mutations in the DNA originating from cancer cells directly through the subpopulation of cfDNA, the circular tumour DNA (ctDNA) analysis or with visualization of cells through intracellular DNA probes. A large number of ctDNA tests in clinical studies demonstrate the importance of new findings in the field of cancer diagnosis. We describe the innovations in personalized medicine: techniques for detecting ctDNA and genomic DNA (gDNA) mutations approved Food and Drug Administration companion genetic diagnostics, candidate genes for assembling the cancer NGS panels, and a brief mention of the multitude of cfDNA currently in clinical trials. Additionally, an overview of the development steps of the diagnostic tools will refresh and expand the knowledge of clinics and geneticists for research opportunities beyond the development phases.
Highlights
Personalized medicine and the transition of clinically applicable research into practice have been rapidly evolving since the end of the last century
We describe the innovations in personalized medicine: techniques for detecting circular tumour DNA (ctDNA) and genomic DNA mutations approved Food and Drug Administration companion genetic diagnostics, candidate genes for assembling the cancer next generation sequencing (NGS) panels, and a brief mention of the multitude of cell-free DNA (cfDNA) currently in clinical trials
Modern diagnostics for non-small cell lung cancer were developed on high risk cancer genes such as epidermal growth factor receptor (EGFR), PD-L1, anaplastic lymphoma kinase (ALK), BRAF (Supplementary Table 5), coding proteins involved in cell proliferation, and immune system evasion (Supplementary Table 5) [76,77,78,79,80,81,82,83,84,85,86,87,88]
Summary
Personalized medicine and the transition of clinically applicable research into practice have been rapidly evolving since the end of the last century. We describe the innovations in personalized medicine: techniques for detecting ctDNA and genomic DNA (gDNA) mutations approved Food and Drug Administration companion genetic diagnostics, candidate genes for assembling the cancer NGS panels, and a brief mention of the multitude of cfDNA currently in clinical trials. Various analytical methods for the detection of cancer using circulating cell-free DNA (cfDNA)
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