Metropolis Healthcare Reveals Key Insights From Molecular Genomics Study

Lung cancer remains one of the most common and fatal cancers globally, accounting for 18 per cent of all cancer-related deaths, with 2.2 million new cases diagnosed annually, according to the International Agency for Research on Cancer. In India, the disease continues to be a leading cause of cancer mortality. However, advancements in early detection and targeted treatments, especially genetic profiling, are significantly improving survival rates.

In observance of Lung Cancer Awareness Month this November, Metropolis Healthcare unveiled findings from a landmark seven-year research study (2015-2021). The study analysed data from over 3,200 individuals diagnosed with lung cancer, focusing on genetic changes in key markers like Epidermal Growth Factor Receptor (EGFR), Anaplastic Lymphoma Kinase (ALK), and c-ros oncogene 1 (ROS1). These molecular markers are crucial for guiding precision oncology treatments tailored to individual genetic profiles.

Key Findings

The research highlighted that 83 per cent of the samples analysed were adenocarcinomas, a common subtype of non-small cell lung cancer (NSCLC), and 17 per cent were squamous cell carcinomas. Both types predominantly affected patients over the age of 60.

Genomic Alterations

EGFR mutations (29.1 per cent): EGFR mutations were the most frequent genetic changes detected, making patients suitable candidates for targeted therapies.

ALK rearrangements (7.8 per cent): Alterations in the ALK gene were also identified as actionable targets for treatment.

ROS1 rearrangements (3.5 per cent): ROS1 changes, similar to ALK, were found to drive cancer progression but are treatable with targeted therapy.

Mutation Patterns

EGFR mutations were most commonly observed in exon 19 (65.6 per cent) and exon 21 (32.1 per cent), specific regions of the gene associated with uncontrolled cell growth. Interestingly, these mutations were more prevalent in younger patients and female individuals. ALK rearrangements, in contrast, displayed a balanced gender distribution and were more frequent among younger patients.

Impact on Treatment

Dr Kirti Chadha, Chief Scientific and Innovation Officer at Metropolis Healthcare, explained the importance of genetic profiling, stating: “Understanding genetic mutations in cancer-related genes enables clinicians to personalise treatments, whether it involves surgery, chemotherapy, or targeted medications. This approach forms the foundation of precision medicine, tailoring therapies to a patient’s unique genetic profile for better outcomes.”

The study underscores the critical role of molecular diagnostics in NSCLC. Techniques like Next-Generation Sequencing (NGS) enable simultaneous analysis of multiple genes, uncovering actionable mutations and broadening treatment options.

Guidelines and Global Standards

Metropolis’ findings align with the evolution of international guidelines. The 2017 NCCN guidelines emphasised testing for EGFR, ALK, and ROS1 in NSCLC, while the 2023 ESMO guidelines expanded the focus to include additional biomarkers such as BRAF, RET, MET, NTRK, HER2, and KRAS G12C. These advances highlight the growing importance of comprehensive genomic profiling in delivering personalised cancer care.

Metropolis Healthcare plans to further its research by incorporating comprehensive 50-gene panels, keeping pace with global standards.