Molecular Diagnostics for Precision Medicine in Colorectal Cancer: Current Status and Future Perspective
Guoli Chen1, Zhaohai Yang1, James R Eshleman2
1Department of Pathology, Penn State College of Medicine, Milton S. Hershey Medical Center, Hershey, PA, USA.
Abstract:
Precision medicine, a concept that has recently emerged and has been widely discussed, emphasizes tailoring medical care to individuals largely based on information acquired from molecular diagnostic testing. As a vital aspect of precision cancer medicine, targeted therapy has been proven to be efficacious and less toxic for cancer treatment. Colorectal cancer (CRC) is one of the most common cancers and among the leading causes for cancer related deaths in the United States and worldwide. By far, CRC has been one of the most successful examples in the field of precision cancer medicine, applying molecular tests to guide targeted therapy. In this review, we summarize the current guidelines for anti-EGFR therapy, revisit the roles of pathologists in an era of precision cancer medicine, demonstrate the transition from traditional "one test-one drug" assays to multiplex assays, especially by using next-generation sequencing platforms in the clinical diagnostic laboratories, and discuss the future perspectives of tumor heterogeneity associated with anti-EGFR resistance and immune checkpoint blockage therapy in CRC.
Insights
Precision medicine tailors cancer care using molecular diagnostics. For colorectal cancer (CRC), targeted therapies guided by molecular tests, like next-generation sequencing, improve treatment efficacy and reduce toxicity.
Area of Science:
- Oncology
- Molecular Diagnostics
- Precision Medicine
Background:
- Precision medicine revolutionizes healthcare by personalizing treatment based on molecular diagnostics.
- Targeted therapy, a cornerstone of precision cancer medicine, offers improved efficacy and reduced toxicity.
- Colorectal cancer (CRC) is a leading cause of cancer-related mortality globally, serving as a model for precision cancer medicine.
Purpose of the Study:
- To review current guidelines for anti-epidermal growth factor receptor (EGFR) therapy in colorectal cancer.
- To examine the evolving role of pathologists in precision cancer medicine.
- To discuss the shift from single-analyte assays to multiplex testing, including next-generation sequencing (NGS), in clinical diagnostics.
Main Methods:
- Review of current clinical guidelines and literature on anti-EGFR therapy in CRC.
- Analysis of the transition towards multiplex molecular assays, particularly NGS, in diagnostic laboratories.
- Discussion of emerging concepts such as tumor heterogeneity and its implications for treatment resistance and immunotherapy.
Main Results:
- Anti-EGFR therapies are integral to CRC treatment, guided by specific molecular markers.
- NGS platforms are increasingly adopted, enabling comprehensive genomic profiling and multiplex testing.
- Tumor heterogeneity presents challenges and opportunities for overcoming anti-EGFR resistance and optimizing immunotherapy.
Conclusions:
- Colorectal cancer exemplifies the success of precision cancer medicine through molecularly guided targeted therapies.
- The integration of advanced diagnostics like NGS is transforming CRC management.
- Future research should focus on addressing tumor heterogeneity to enhance therapeutic strategies, including immune checkpoint blockade.
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