A recent review in Cancer Screening and Prevention looks at current and emerging methods for diagnosing colorectal cancer (CRC) with a focus on screening methods and point-of-care (POC) testing. The authors evaluated current practices, diagnostic challenges, and emerging technologies aimed at improving early detection and management of CRC.
Colorectal cancer is among the leading causes of cancer morbidity and mortality worldwide. It typically develops from precancerous polyps through gradual genetic and epigenetic changes. While the majority of cases occur in individuals over 50, younger patients increasingly present with aggressive disease. Risk factors include family history, hereditary syndromes, inflammatory bowel disease, obesity, diet high in red or processed meat, smoking, and alcohol consumption.
The review also notes disparities in survival outcomes linked to access to diagnostic services, with higher incidence and mortality reported in certain racial and ethnic groups. These variations underscore the importance of early and equitable access to diagnostic testing.
Screening remains the most effective way to reduce deaths from CRC. Widely used non-invasive tests include fecal occult blood tests, fecal immunochemical tests, and stool DNA tests. These methods can detect blood or molecular changes in stool, but their accuracy varies and many patients still require follow-up colonoscopy.
Blood-based tests, such as liquid biopsy, offer another non-invasive option, but their sensitivity is limited, especially for detecting precancerous adenomas. Colonoscopy remains the gold standard, as it allows for direct visualization and removal of lesions. However, it is invasive, resource-intensive, and associated with risks that may reduce patient compliance.
The review emphasizes that new technologies are being studied to improve diagnostic precision. Single-cell sequencing and spatial transcriptomics provide detailed information on tumor biology and the tumor microenvironment. AI is being applied to colonoscopy and histopathology to improve adenoma detection and reduce missed diagnoses. Integration of multi-omics data is also being explored to support better risk assessment and treatment planning.
The authors emphasize the need for screening tools that are accurate, minimally invasive, and applicable across diverse populations. They also point to lifestyle measures – such as healthier diets, exercise, and smoking cessation – as important for prevention and complementary to diagnostics.
The review concludes that while progress has been made, further work is needed to standardize advanced diagnostic technologies, lower costs, and validate them in larger populations. Continued innovation, combined with adherence to existing screening guidelines, remains key to lowering the global burden of colorectal cancer.
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