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 Molecular biomarkers—genetic and protein-based indicators—offer the potential to revolutionize screening by identifying high-risk individuals even before symptoms of colorectal cancer (CRC) develop. Unlike Western countries, where CRC screening is an integral part of healthcare systems, India lacks widespread, organized screening programs, according to Dr. Sumant Gupta, director, Metro Cancer Institute.
CRC is becoming an increasingly significant health concern in India, with a noticeable rise in cases. This increase is largely due to changing lifestyles, longer life expectancy, and the absence of routine, organized screening programs.
Standard screening methods like colonoscopies and fecal immunochemical tests (FIT) are available but not widely utilized, primarily due to low awareness and accessibility issues. Colonoscopy, though valuable, is an invasive procedure that requires preparation and clinical expertise, deterring many individuals from undergoing screening.
In light of these challenges, Dr. Gupta points to liquid biopsy-based tests as an innovative alternative. He informs, “Non-invasive early detection methods, such as liquid biopsies, present a more patient-friendly and accessible solution, offering a better chance for early detection and improved outcomes.”
Molecular biomarkers are emerging as critical tools in both CRC diagnosis and treatment. These biomarkers are enabling the shift toward precision medicine, where therapies are tailored to an individual’s genetic profile rather than relying on a generalized approach. “Every CRC case is unique. With the advent of molecular profiling, oncologists can make precise treatment decisions that improve patient outcomes while minimizing unnecessary side effects,” Dr. Gupta explains.
Notably, genetic mutations such as KRAS, NRAS, and BRAF play a pivotal role in determining the most effective treatments for CRC patients. For example, the presence of KRAS or NRAS mutations can indicate that anti-EGFR therapies like cetuximab and panitumumab will not be effective, allowing oncologists to avoid ineffective treatments. “By identifying these mutations early, we can not only avoid ineffective treatments but also minimize unnecessary costs,” says Dr. Gupta.
Furthermore, new therapies are showing promise for patients with specific mutations like the BRAF V600E mutation, which is linked to poor prognosis. “Combining BRAF inhibitors with other therapies has been proven to improve survival rates. Additionally, patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR) status are responding well to immune checkpoint inhibitors such as pembrolizumab and nivolumab, potentially avoiding chemotherapy altogether,” Dr. Gupta notes.
Liquid biopsy, which detects circulating tumor DNA in the blood, is also emerging as a game-changer in CRC detection. “This non-invasive method offers a less invasive alternative to traditional biopsies, making it particularly beneficial in India where access to advanced medical centers may be limited,” says Dr. Gupta.
Despite the promise of molecular biomarkers, the widespread adoption of these techniques faces several barriers in India. One of the primary challenges is cost, as advanced genetic tests remain expensive and are mostly available only in tertiary care centers. Dr. Gupta emphasizes the need for affordable testing options to ensure that precision medicine is accessible to a broader population.
Another critical issue is the lack of awareness about biomarker-driven therapies among both healthcare providers and the public. “Many physicians in India are not fully informed about the benefits of genetic testing, which can lead to suboptimal treatment choices. Educating healthcare professionals and raising public awareness are essential steps toward improving CRC management in the country,” says Dr. Gupta.
Dr. Gupta stresses the importance of integrating molecular biomarker testing into government healthcare programs, especially for individuals at high risk of CRC, such as those with a family history of the disease. Establishing national screening guidelines that include molecular diagnostics would be a significant step toward reducing CRC mortality rates.
Public health initiatives focusing on early screening and healthy lifestyle choices can also play a crucial role in reducing CRC risk. “Adopting a fiber-rich diet, exercising regularly, and avoiding tobacco and excessive alcohol consumption are vital preventive measures,” Dr. Gupta advises.
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