Next-Generation Sequencing Unlocks New Insights Into Cancer
Next-generation sequencing (NGS) technologies have transformed genomic cancer testing by enabling rapid, comprehensive analysis of a patient's entire cancer genome. By sequencing all of the DNA within a tumor sample, NGS can detect millions of genetic mutations and other abnormalities that may be driving cancer growth and progression. This level of genomic insight was previously impossible prior to the development and scaling of NGS approaches over the last decade.
NGS Has Revealed the Enormous Complexity of Cancer Genomes
Early Genomic Cancer Testing studies using NGS quickly revealed that tumors are far more genetically complex than previously imagined. The average cancer contains hundreds and sometimes thousands of genetic mutations, the vast majority of which have unknown significance. Interpreting this complex mutational landscape and teasing apart the handful of "driver" mutations that confer a selective growth advantage from harmless "passenger" mutations has challenged researchers. Large cancer genome datasets and computational tools are helping to disambiguate these driver and passenger mutations on a global scale.
Gene Panels Can No Longer Capture the Full Spectrum of Cancer Genetics
For many years, targeted gene panels sequencing a limited selection of around 50 genes were the standard approach for genomic cancer testing. However, as cancer genome analysis has expanded, it has become clear that clinically important mutations frequently occur outside of the narrow gene panels. Pan-tumor analyses of thousands of cancers have founddriver mutations in many new genes not traditionally associated with specific cancer types. Comprehensive genomic profiling using NGS is now needed to optimize cancer treatment in the era of precision and personalized medicine.
Integration of Genomic Data Into Clinical Decision Making
Actionable information provided by genomic cancer testing, such as identifying rare drivermutations that can be targeted with FDA-approved or clinical trial therapies, is directly influencing treatment decisions. Systems for seamlessly integrating genomic results into electronic health records and clinical decision support are helping oncologists leverage this newfound genomic knowledge at the point of care. Examples include tumor boards, genetic counseling, and clinical trial matching based on a patient's genomic alterations. Widespread genomic testing thus has the potential to substantially improve outcomes for many cancer patients by enabling genetically guided treatment strategies.
Challenges Remain for Analyzing and Applying Cancer Genomic Data
While NGS technologies have opened a new window into the genomic underpinnings of cancer, challenges remain for fully leveraging this opportunity. Analytic pipelines must evolve to keep pace with ever-growing cancer genome reference datasets and clinical knowledgebases. Novel computational and statistical techniques are needed to solve problems like distinguishing passenger from driver mutations with limited supporting evidence. Integrating multimodal genomic and molecular data types like mRNA expression, methylation, and protein levels will provide a more comprehensive portrait of cancer biology. There are also ethical, legal and social challenges around managing incidental or uncertain genomic findings. With continued effort across research, clinical care, and regulatory agencies, genomic cancer testing promises to accelerate progress against this leading cause of death worldwide.
Next-generation genomic sequencing has revolutionized our understanding of cancer through comprehensive analysis of whole tumor genomes. Leveraging these new insights requires overcoming remaining challenges in large-scale data analysis and clinical integration. With translation of genomic discoveries into treatment practices, cancer genomic testing holds great potential to improve patient outcomes through precision oncology approaches.
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