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The Pathologist / App Notes / 2020 / Comprehensive Genomic Profiling

Comprehensive Genomic Profiling

11/10/2020

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The ability to decode DNA sequences is providing scientists with powerful insights into cancer biology. From a molecular perspective, cancer is a multifaceted disease involving multiple genetic variations and subsequent changes in gene expression patterns that induce uncontrolled tumor growth. The genomic characterization of cancer is leading to the identification and use of better diagnostic, prognostic and predictive biomarkers and more effective management.

 

 

The introduction of rapid DNA-sequencing procedures has significantly accelerated biological and medical research and discoveries. Academic researchers obtained the first DNA sequences in the early 1970s, using arduous procedures based on two-dimensional chromatography. Frederick Sanger was awarded two Nobel prizes, one for the sequencing of proteins and the other for the sequencing of DNA.

The next step from Sanger sequencing, next-generation sequencing (NGS), enables genome sequencing at high speed and low cost. By increasing the affordability, accessibility and reliability of DNA and RNA high-throughput sequencing platforms, NGS has revolutionized the practice of oncology, enabling clinicians to deliver personalized care to their patients. It is important to emphasize that while NGS provides molecular information, the treating clinician should interpret this in light of the clinical picture of the patient. The NGS platform does not recommend how to treat a patient.

 

 

>> Download the ebook PDF

 

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