Precision Medicine Detection Methods

Precision medicine aims to customize treatment according to the unique genetic and molecular profile of a patient’s disease, particularly in cancer. Various advanced detection methods facilitate this personalized approach by analyzing genetic mutations, protein expression, and genomic alterations. 

Next-Generation Sequencing (NGS)

A high-throughput technology that sequences millions of DNA fragments simultaneously

Used to detect mutations, insertions/deletions, copy number variations, and gene fusions in targeted gene panels, whole exomes, or whole genomes

Enables identification of actionable mutations for targeted therapy and resistance mechanisms

1. Immunohistochemistry (IHC)

   • A laboratory technique that uses antibodies to detect specific proteins in tissue samples

   • Helps determine protein expression levels, such as hormone receptors (ER, PR), HER2 in breast cancer, or PD-L1 in immunotherapy candidates

   • Provides information about tumor characteristics and guides therapy decisions

   
   

2. Whole Exome Sequencing (WES)

   • Sequencing of all protein-coding regions (exons) of the genome, which represent about 1-2% of the total Focuses on identifying mutations that directly affect protein function and are more likely to drive disease

   • Useful for discovering novel mutations and understanding genetic causes of cancer

   
   

3. Whole Genome Sequencing (WGS)

   • Comprehensive sequencing of the entire genome, including coding and non-coding regions

   • Provides the most complete genetic information, detecting structural variants, non-coding mutations, and complex genomic rearrangements

   • Offers deeper insights but requires more data processing and interpretation

These approaches collectively establish the basis of precision oncology, facilitating precise diagnosis, prognostic evaluation, and tailored treatment plans informed by the molecular characteristics of each patient’s tumor.