Last Updated:November 19, 2024, 16:16 IST

DNA serves as a blueprint that guides the future of lung cancer treatment

While most lung cancers are sporadic, a small percentage may have hereditary components

Lung cancer continues to be one of the most prevalent and deadly cancers globally, with a concerning rise in cases in India, from 98,278 in 2020 to 103,371 in 2022. The disease is primarily linked to environmental and lifestyle factors like smoking and air pollution, but genetic mutations also play a role in its development. Early-stage lung cancer may go unnoticed, but as it progresses, symptoms like chest pain, coughing, weight loss, and difficulty in breathing appear.

Household and outdoor air pollution are major contributors to lung cancer and disproportionately affect vulnerable populations such as children, women, the elderly, and individuals with pre-existing conditions. On the other hand, a family history of lung cancer, particularly in non-smokers or those with multiple affected relatives, can suggest a potential inherited genetic predisposition to the disease.

Inherent gene mutations are less common but can significantly increase the overall risk, however, acquired mutations play an important role in the development of lung cancer. These mutations also serve as important genomic biomarkers for deciding the best treatment options. Dr Suruchi Aggarwal, Head – Scientific Affairs, MedGenome shares how DNA influences lung cancer treatment.

Lung cancer treatment has witnessed a revolution in recent years, largely driven by the increasing understanding of genetics and personalized medicine. The era of “one-size-fits-all” treatments is going away and targeted therapies tailored to an individual’s genetic profile, offering better outcomes and fewer side effects.

Genomic testing performed on tumor samples or through liquid biopsy, identifies genetic mutations or alterations such as EGFR, ALK, ROS1, BRAF, KRAS, and others through the Next Generation sequencing technique. These mutations are the drivers of cancer progression and therapies have been designed to target the mutated cancer cells. For example, if L858R or Exon 19 del mutation in the EGFR gene is identified in a Non-small cell lung cancer patient, the EGFR inhibitors are used, which block the growth pathways resulting in a highly effective personalized treatment. Nevetheless, cancer cells can evolve, rendering these treatments ineffective over time. Genetic analysis further helps identify secondary mutations that cause resistance, such as the T790M mutation in EGFR-mutated lung cancer. This information allows doctors to switch to second-line or next-generation treatments, maintaining disease control.

There are other molecular biomarkers like PD-L1 expression or tumor mutational burden (TMB) which guide immunotherapy decisions. Immunotherapies, such as checkpoint inhibitors, harness the body’s immune system to attack cancer cells. Knowing the genetic and molecular landscape of the tumor ensures precision medicine and the right patients can avail of these innovative therapies, improving success rates.

The liquid biopsy technology is particularly transformative for lung cancer which enable non-invasive analysis of circulating free DNA (cfDNA) from a blood sample, especially when tissue is not available or is inadequate. Liquid Biopsy can be very useful in newly diagnosed patients to identify targetable mutations as well as in treated patients, it allows real-time monitoring of genetic changes, treatment response, and early detection of relapse.

Genetic insights pave the way for participation in cutting-edge clinical trials. Patients with rare genetic alterations like MET amplifications can access experimental therapies, offering hope even in advanced stages of lung cancer.

While most lung cancers are sporadic, a small percentage may have hereditary components. For example, inherited mutations in genes like TP53 or RB1 can predispose individuals to lung cancer. Genetic testing not only helps in risk assessment for families but also informs surveillance strategies and early interventions.

DNA serves as a blueprint that guides the future of lung cancer treatment. With genetic testing and personalized approaches becoming more accessible, patients have a greater chance of effective, precise care.