Can genetics help us beat lung cancer?

If a person is diagnosed with non-small cell lung cancer (NSCLC) and it’s classified as early-stage, this means that it hasn’t yet spread to other organs in the body. For all cancers, not just lung cancer, catching the disease at this early stage can provide the best chance to reduce recurrence and prolong survival.

We are seeing tremendous strides being made in lung cancer diagnosis and treatment which is bringing new possibilities for people with this disease. Sophisticated diagnostic tools coupled with novel targeted therapies are two advances that are helping to redefine the treatment of lung cancer across all stages of the disease. Undergoing a comprehensive biomarker test can help to understand the exact characteristics of a person’s tumour to inform which treatment option might work best. For example, the test might reveal a specific gene alteration that could be targeted with a novel therapy, offering that individual a more personalised treatment approach.

Lung cancer is one of the most common, and deadly, forms of cancer, claiming the lives of around 1.8 million people each year.1 Alone, it is responsible for more deaths than breast, colorectal and prostate cancer combined.2 NSCLC is the more prevalent type, accounting for ~85% of cases.3 Treating lung cancer early, before it has spread, may help prevent the disease from returning and provide people with the best opportunity for a cure.

It is an exciting time for lung cancer research, with advances in screening, diagnostic testing and drug development ushering in a new era for patients like Amanda. At the root of these groundbreaking advancements is a focus on understanding the genetics and disease pathways behind cancer. Previously classified into two main types, we now know that lung cancer is much more diverse, with multiple different genetic subtypes. Genomic testing and advanced diagnostics can identify biomarkers in a patient’s tumour that can be targeted with novel precision medicines, empowering us to help lung cancer patients like never before. Examples of biomarkers that can be targeted include:

  • The anaplastic lymphoma kinase (ALK) gene rearrangement causes the formation of an ALK fusion protein, which drives the abnormal growth and survival of cancer cells.4 It is usually found in people who are non-smokers or light smokers.5

  • Epidermal growth factor receptor (EGFR) is a signalling protein that sits across the cell membrane.6 When epidermal growth factor (EGF) binds to EGFR, it triggers cell growth and division.

  • ROS1 is a tyrosine kinase, which plays a role in controlling how cells grow and proliferate.7

  • Rearranged during transfection (RET) gene alterations, such as fusions and mutations, are key disease drivers in many types of cancer, including NSCLC.8

  • PD-L1 is a protein that is involved in regulating the body’s immune response.9

  • Neurotrophic tyrosine receptor kinase (NTRK) gene fusions are disease drivers across a wide range of tumour types.10

Testing for these biomarkers can help identify people who may benefit from targeted therapies or immunotherapies.

More than half of lung cancer patients are diagnosed at an advanced stage, after the cancer has spread to other parts of the body, at which point the disease is often considered incurable.11 For those who are diagnosed early, around half of all people (45-76%, depending on disease stage) will experience a cancer recurrence following surgery, despite adjuvant chemotherapy.12 Improvements in screening, diagnostic testing and treatment for people with early-stage disease are urgently needed to prevent disease recurrence, prolong survival, improve use of healthcare resources and provide the best opportunity for cure.

In addition to the physical and psychological burdens, people with lung cancer often face judgement, discrimination and a lack of empathy around their disease due to the association of lung cancer with smoking, which can make them feel lonely and discouraged from seeking advice.13 Many people with lung cancer have a history of tobacco smoking, but approximately one in five people who develop lung cancer have never smoked.14 Further, ALK+ lung cancer often impacts patients at an earlier age, meaning that they may have to leave work to focus on treatment, potentially leaving them with a financial burden.15

Collaborative research in the areas of diagnostics and pharmaceuticals is driving innovation that will potentially transform the lives of cancer patients and their families. Roche’s diagnostics and drug development programmes are designed to address the multifaceted nature of this disease and ultimately provide an effective treatment option for every person with lung cancer. Together with our partners around the world, we are paving the way for the next era of precision medicine by identifying more actionable biomarkers to advance scientific understanding and develop novel targeted therapies for people in need of new options. Driven by the promise of the future and the rewards that come with giving patients like Amanda a chance to experience more of life’s memorable moments, today’s collaborative relationship between diagnostics and pharmaceutical research is instilling hope where there once was none.


  1. World Health Organization. Cancer. [Internet; cited 2023 October]. Available from:

  2. American Cancer Society. Key Statistics for Lung Cancer. [Internet; cited 2023 October]. Available from:

  3. American Cancer Society. What Is Lung Cancer? [Internet; cited 2023 October]. Available from:

  4. Choi YL, et al. Identification of novel isoforms of the EML4-ALK transforming gene in non-small cell lung cancer. Cancer Res 2008 Jul 1;68(13):4971–6.

  5. Shaw AT, Engelman JA. ALK in Lung Cancer: Past, Present, and Future. J Clin Oncol. 2013 Mar 10; 31(8): 1105–11.

  6. Wee P, Wang Z. Epidermal Growth Factor Receptor Cell Proliferation Signaling Pathways. Cancers (Basel). 2017 May 17;9(5):52.

  7. Davies KD, Doebele RC. Molecular pathways: ROS1 fusion proteins in cancer. Clin Cancer Res. 2013 Aug 1;19(15):4040-5.

  8. O'Leary C, et al. Rearranged During Transfection Fusions in Non-Small Cell Lung Cancer. Cancers (Basel). 2019 May 3;11(5):620.

  9. Han Y, et al. PD-1/PD-L1 pathway: current researches in cancer. Am J Cancer Res. 2020 Mar 1;10(3):727-742.

  10. Forsythe A, et al. A systematic review and meta-analysis of neurotrophic tyrosine receptor kinase gene fusion frequencies in solid tumors. Ther Adv Med Oncol. 2020 Dec 21;12:1758835920975613.

  11. Masago K, et al. Long-term recurrence of completely resected NSCLC. JTO Clin Res Rep 2020. 1(3):100076.

  12. Pignon JP, et al. Lung Adjuvant Cisplatin Evaluation: A Pooled Analysis by the LACE Collaborative Group. World J Clin Oncol. 2008;26(21):3552-3559.

  13. Diaz D, et al. Stigmatizing attitudes about lung cancer among individuals who smoke cigarettes. NIH PubMed Central 2022 Apr.

  14. American Cancer Society. Lung Cancer Risks for People Who Don’t Smoke. [Internet; cited 2023 October]. Available from:

  15. Xu T, et al. Assessment of Financial Toxicity Among Patients With Advanced Lung Cancer in Western China. Front Public Health. 2022 Jan 12;9:754199.


Learn about this specific form of lung cancer that affects younger patients, many of whom have never smoked.To learn more about EGFR testing look at our infographic

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