What is Genomic Cancer Testing?

Genomic cancer testing, also known as tumor profiling or molecular profiling, refers to specialized medical tests that analyze the DNA, RNA or proteins of a tumor sample to identify specific genetic changes and biomarkers. This comprehensive genetic analysis of a patient’s cancer yields detailed molecular information that can guide treatment decisions. By looking at genomic alterations at the molecular level, doctors gain insights into the biological properties and future behavior of an individual’s cancer. This personalized approach helps determine which therapies may work best for each patient based on the unique genetic characteristics of their tumor.

How is Genomic Testing Performed?

The Genomic Cancer Testing with obtaining a fresh tumor tissue sample, usually through a biopsy. The sample is then analyzed in a clinical lab using advanced technology like next-generation sequencing. These powerful molecular diagnostic techniques allow researchers to efficiently sequence the entire genome or targeted regions of interest across millions of DNA fragments at once. Analyzing this vast amount of genetic data yields a detailed molecular profile of the patient’s tumor, revealing genetic mutations, alterations in gene expression and other biomarkers that may be driving cancer growth and progression. Some key tests performed include DNA sequencing to detect somatic mutations, RNA sequencing to study patterns of gene expression, and protein analysis through immunohistochemistry.

What Types of Genetic Information is Revealed?

Comprehensive genomic testing can uncover many different types of clinically relevant genetic alterations in a patient’s cancer. Common examples include mutations in cancer genes like KRAS, NRAS, BRAF, EGFR and ALK that are implicated in cellular signaling pathways involved in tumor growth. Finding these “driver mutations” is important as some can predict response to targeted therapies, while others may indicate resistance. Tests may also reveal mismatches in DNA that can point to defects in homology-directed repair – marking patients as candidates for immunotherapy with PARP inhibitors or cancer vaccines. Additionally, genomic profiling provides information about microsatellite instability or deficiencies in the immune system’s PD-L1 protein that predict whether immunotherapies will work.

How is the Data Used in Treatment Planning?

Once a patient’s tumor genomic profile is complete, an interdisciplinary molecular tumor board reviews the results along with the patient’s medical history and disease characteristics. For cases where a targetable genomic aberration is found, the board can recommend a targeted therapeutic approach that directly inhibits the specific genetic driver altered in that patient’s cancer. For example, if a BRAF mutation is present, a BRAF inhibitor may be prescribed. The absence of targetable alterations may instead prompt consideration of immunotherapy or chemotherapy depending on other test findings. By detecting predictive genetic biomarkers and tumor vulnerabilities, genomic cancer testing guides selection of the most suitable treatment strategy for each patient, hopefully improving outcomes through a personalized, precision medicine approach.

Expanding Genomic Testing Options

With rapidly advancing genomic technologies and continuous improvements in cancer genome interpretation, the potential applications of tumor profiling continue expanding. Researchers are working to understand the clinical relevance and predictive value of newly discovered cancer genes and gene fusions. Multi-cancer panel tests are becoming available that can profile up to several hundred cancer-related genes from a single tumor sample. These comprehensive assays provide a more complete molecular profile to aid in diagnosis and guide subsequent treatment decisions. Additionally, efforts are underway to implement broader genomic testing earlier in the disease course and across more cancer types and stages of disease. Widespread genomic sequencing of tumors also holds promise for accelerating cancer research through biomarker discovery and comparative analysis across large patient datasets.

Challenges and Barriers Remain

While Genomic Cancer Testing improves personalized care, challenges and barriers must still be addressed before its full potential can be realized. Expense remains a challenge, though costs have declined significantly. Clinical interpretation can be complex, requiring bioinformatics expertise. Turnaround time for results needs to be faster to aid critical treatment decisions. Most importantly, clinical utility must be demonstrated through well-designed studies showing improved patient outcomes with genomic-matched therapies. Wider clinical adoption will require guidelines on optimal testing panels and endorsement from medical societies. Overall, continued refinement of technologies, growing evidence supporting clinical applications, falling prices, and guideline development will be important to fully integrate genomic profiling into standard cancer care.

Comprehensive analysis of a tumor’s genomic makeup through specialized medical testing is advancing our ability to match each cancer patient with the treatment approach most likely to help them based on the unique genetic properties of their disease. Though challenges persist, ongoing improvements and clinical experience are establishing genomic cancer testing as a valuable tool for personalized, precision oncology care with the potential to significantly improve outcomes for many patients in the years ahead. As our understanding of cancer genomic alterations continues expanding, so too will opportunities to leverage this detailed molecular information to develop targeted therapies and rational treatment strategies tailored to individual patients.

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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it