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Implementation of Next-Generation Sequencing (NGS) in Clinical Oncology Diagnostics
Next-Generation Sequencing (NGS) has revolutionized oncology by transitioning cancer treatment from a "one-size-fits-all" model to precision medicine. In a clinical setting, NGS involves high-throughput sequencing of tumor DNA and RNA to identify somatic mutations, copy number variations, and structural rearrangements.
The Diagnostic Pipeline
The process begins with the acquisition of a tissue biopsy or a "liquid biopsy" (circulating tumor DNA from blood). The DNA is fragmented, and adapters are ligated to create a "library." These fragments are then amplified and sequenced in parallel, producing millions of "reads."
Bioinformatics Analysis: Raw data is aligned against a reference human genome. Sophisticated algorithms filter out "noise" (benign polymorphisms) to pinpoint "driver mutations" that are actively causing tumor growth.
Actionability: A mutation is considered "actionable" if there is a Food and Drug Administration (FDA)-approved drug or an active clinical trial targeting that specific genetic flaw. For example, identifying an EGFR mutation in non-small cell lung cancer (NSCLC)…