Tumor Profiling- A Ray of Hope for Cancer Patients

Published on: 25 Feb 2022

 

Growing prevalence of cancer globally and increasing adoption of precision medicine options are pacing new paths for the advanced diagnostic products for determination of the cancerous gene and targeted therapies for the same.

According to the International Agency for Research on Cancer, 1 in 5 people develop cancer during their lifetime across globe. Moreover, 1 in 8 men and 1 in 11 women die from the disease indicating significant need for effective diagnostic and therapeutic options. Moreover, new estimates from GLOBOCAN suggests that more than 50 million people are living within five years of a past cancer diagnosis. Ageing populations globally and socio-economic risk factors remain among the primary factors driving this increase.

Timely diagnosis and ability to determine genetic profile of the cancerous cells are proving advantageous in saving many lives. Increasing new cancer cases due to ageing population and lifestyle changes are likely to drive the demand for cancer profiling products in near term.

Tumor profiling is a laboratory test to check for certain genes or gene mutations, proteins or other biomarkers in a sample tumor tissue. Recently, there has been significant development in the molecular diagnostic technology with more and more number of players entering with advanced solutions.

This can be witnessed form rise in research and development spending in cancer research of many leading players over the years. Moreover, huge funds are raised in the development of products against cancer. For example,

As per research published by ecancermedicalscience, around 153 public research funding organisations (RFO) in the EU and in the USA spent greater than €1 million annually on oncology. EU RFOs collectively spent €2.79 billion while the US RFOs collective spending accounted for €5.8 billion.

Some of the trending technologies of this life saving technology include:

Comprehensive Genome Profiling:

Comprehensive genomic profiling (CGP) is a next-generation sequencing (NGS) approach that uses a single assay to assess hundreds of genes including relevant cancer biomarkers, as established in guidelines and clinical trials, for therapy guidance.

A comprehensive single assay that assesses a wide range of biomarkers increases the chances of obtaining relevant information vs. targeted panels.

Cancer Hot Spot Testing:

Cancer mutations that are recurrently observed among patients are known as hotspots. Hotspots are highly relevant because they are, presumably, likely functional

Overview of Existing and Emerging Technologies of Cancer/Tumor Profiling:

Progress in cancer genomic research over the past few decades has reinforced the notion that center is caused by mutations in gene alterations which create dysregulated signalling cascade and derivatives of mutant proteins. Historically, first generation sequencing/sanger sequencing were primarily used as the for-tumor profiling in last decade However, it has several challenges such as heterogeneity, sub-clonality, ploidity of tumor cells etc.

Genotyping: These technologies emerged as an alternative to conventional first-generation technology being advantageous in terms of cost, throughput, and sensitivity. These are widely used to systematically profile patient tumor samples. Some of the limitations include limited sensitivity, restricted breadth and inability to detect multiple categories of genes.

Other Existing Technologies used for Cancer or tumor profiling include:

  • Fluoresce In Situ Hybridization (FISH)
  • Immunohistochemistry
  • Array CGH
  • SNP array
  • Kaytyping
  • PCR
  • Microbial Arrays
  • RNA Microarray

Next Generation Sequencing: As the research efforts progressed in recent years, several powerful DNA sequencing technologies emerged that were radically different than capillary based technologies. The cost of genome sequencing dropped over last years and the research cost reduced tremendously opening new doors for cancer therapies.

Emerging technologies for cancer profiling

  • Targ-Seq/WES
  • RNA Seq
  • Targ-Seq/WES
  • Whole Genome Sequencing
  • RNA Sequencing
  • Whole Exome Sequencing
  • ChIP sequencing
  • Liquid Biopsy

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