Genomic Testing
Genomic testing, also known as genomic profiling or comprehensive genomic profiling, is an advanced type of cancer testing that examines the entire genome of a patient's tumor. This detailed analysis provides crucial information about the genetic changes and mutations that are driving the cancer's growth and progression. By obtaining this genomic profile, doctors can gain a deeper understanding of each patient's specific cancer and how it may respond to various targeted therapies or immunotherapies.
What is Sequenced in Genomic Testing?
The Genomic Cancer Testing utilizes next-generation sequencing technologies to analyze both the coding and non-coding regions of a patient's genome. The exact genes and portions of DNA that are sequenced can vary depending on the test, but some common areas analyzed include:
- All known cancer-related genes: Tests sequence hundreds of genes that are implicated in cancer development, progression or resistance to treatment. This identifies any mutations that may serve as biomarkers or therapeutic targets.
- Whole exome sequencing: The protein-coding portions of all genes, called the exome, are sequenced to uncover any mutations affecting gene function. Around 85% of known disease-causing mutations occur within exomes.
- Whole genome sequencing: The entire genome, including coding and non-coding regions, is sequenced at high depth for the most comprehensive mutational profile. This can find mutations even in poorly characterized regions of the genome.
- RNA sequencing: Also known as whole transcriptome profiling, this assesses gene expression levels and detects any abnormalities like gene fusions from cancer-associated chromosomal rearrangements.
Uncovering Targetable Genomic Alterations
Once the genomic sequencing data is processed and analyzed, oncologists can review the results to see if any targetable genomic alterations were found. These genomic biomarkers could indicate the potential responsiveness of the cancer to FDA-approved targeted therapies or clinical trials of investigational drugs. Some examples include:
- Mutations in EGFR, ALK or ROS1 that predict response to tyrosine kinase inhibitors in lung cancer.
- BRAF or NRAS mutations indicating suitability for BRAF or MEK inhibitors in melanoma.
- HER2 amplifications showing promise with HER2-targeted therapies for breast or gastric cancer.
- MSI-high or dMMR status qualifying patients for immunotherapy in various cancers.
- Rare genomic changes opening eligibility for molecularly matched clinical trials.
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