Dr. Omshree Shetty
Scientific Officer, Molecular Pathology Laboratory
Tata Memorial Hospital, India
The introduction of next-generation sequencing (NGS) benchtop platforms has offered a powerful alternative for mutation detection, dramatically improving the speed and the efficiency of DNA/RNA testing. NGS has also allowed for a better understanding of the genetic basis for an individual’s response to therapy.
The present study is a road map for developing multigene panel testing for solid tumors. The issues with the formalin fixed Paraffin Embedded Tissues, Quality of the nucleic acids and the stringency required for making the library preparation are the key issues which need to be addressed appropriately for a successful NGS run.
The crest and trough of NGS as the title suggest describes the problem and pitfalls faced in a routine molecular diagnostic laboratory, the challenges in detection, identification and characterization of the molecular alterations which are clinically relevant. The classification of the alteration as per the recommended guidelines and the importance of the same has been discussed in this presentation. Overall, the study describes the incorporation of targeted gene panel in solid tumors into routine clinical practice. Such NGS-based comprehensive gene panel testing are the key to tailored personalized medicine approach in future.