Molecular Profiling of Cancer Tumors : Implications for Precision Medicine
Author: Adroit Market Research(i) : Contact: adroitmarketresearch.com
Synopsis and Key Points:
Advances in molecular profiling of tumor cells have increased potential of evolution of cancer cells and showcased need for early cancer diagnosis and personalized disease management.
The recent paradigm in the form of prominent advancements has opened new opportunities for minimally invasive liquid biopsies.
Cancer tumor profiling with NGS enables analysis of a selected set of genes or gene regions on the basis of their involvement with solid tumors.
Cancer is among the leading causes of death globally and is characterized as a heterogeneous condition of different cell subtypes, such as endovascular cells, immune cells and mesenchymal cells.
Recent advances in the molecular profiling of tumor cells have phenomenally increased the potential of the evolution of cancer cells and therefore showcased the need for early cancer diagnosis and personalized disease management.
One major standard of personalized and precision medicine (PPM) is the opportunity to provide personalized disease diagnosis and treatment as against the conventional model.
The concept of PPM revolves around the principles of point of care and patient-centered healthcare. The conventional cancer diagnostic methods rely on the low resolution, yet expensive in vivo imaging approaches along with invasive approaches for tumor biopsy. However, the emergence of key enabling technologies such as biomarker-based technologies shall make decentralized diagnostics a viable possibility.
The Story So Far...
Physicians may choose any of the below molecular profiling methods for tumor analysis. However, no single profiling method is mutually exclusive or equal. Highlights of such technologies are as follows:
- Immunohistochemistry: determination of protein expression level.
- Next generation sequencing (NGS): the most popular and promising method, used for rapid examination, and broad detection of DNA mutation, gene fusion and copy number variation in the genome.
- Sanger sequencing: an examination of DNA strands for identification of mutations through long continuous sequencing.
- Quantitative polymerase chain reaction: amplification and quantification of the targeted DNA molecule.
- Fragmented analysis: detection of a change in the DNA or RNA for indicating the presence or absence of any genetic matter.
- Chromogenic/ Fluorescence in situ Hybridization: detection of gene translocation, deletion, amplification and fusion.
- Pyro sequencing: detection and quantification of mutations, though synthesis sequencing.
The recent paradigm in the form of prominent advancements has opened new opportunities for minimally invasive liquid biopsies. Liquid biopsy offers a minimally invasive approach to multiple patient snapshots as against the conventional solid biopsy which provided only one static analysis.
Liquid biopsy or analysis of periphery blood assists in providing valuable information with respect to circulating tumor cells (CTCs) and DNA, etc.; scientists are already gathering vital evidence recommending its further clinical utility as a biomarker associated with tumor initiation and progression.
One of the prominent restraints to liquid biopsy is the low natural presence of CTCs in the peripheral blood. Certain microfluidic technologies have been made for filtering CTCs from the blood matrices; these technologies were developed on the basis of the distinctive physical features of circulating tumor cells and the presence of surface markers.
Some studies have reported that the implementation of microfluidic technologies was successful in CTC isolation from patients with metastatic cancers of the ling. Simultaneously, there is a rapid emergence of technologies such as next generation sequencing and digital polymerase chain reaction to understand and explore the genetic profile of cancer cells.
Cancer tumor profiling with NGS enables analysis of a selected set of genes or gene regions on the basis of their involvement with solid tumors. This enables high sensitivity for the detection of rare mutations. Furthermore, tumor profiling with NGS also demonstrates scalability to hundreds of samples. NGS can allow quick and cheap identification of all the required genetic information through the same tumor sample than Sanger sequencing. NGS also profiles high-risk genes linked with hereditary cancers and assist in the efficient selection of patients for specific therapeutic strategies.
What the Future Holds
The evolution of personalized and precision medicine in oncology shall witness a union between new diagnostic technologies and the discovery of novel biomarkers.
In the years to come, more numbers of cancer biomarkers from the genome to the epigenome shall be identified. Further evolution in profiling technologies shall enable the advent of low cost, portable and multiparametric (mp) technologies that shall focus on swift phenotyping of biofluids. The outcomes of this process shall be time and patient exclusive and shall be used for decoding disease sub-states with better precision.
Cancer medicine should, therefore, make the utmost use of the new generation of profiling technologies for delivering advanced cancer diagnostics and monitoring which would enable overall patient wellbeing.
(i)Source/Reference: Adroit Market Research. Disabled World makes no warranties or representations in connection therewith. Content may have been edited for style, clarity or length.
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