How genetic profiling could transform outcomes for lung cancer patients

How genetic profiling could transform outcomes for lung cancer patients

Lung cancer, the deadliest cancer globally, is often diagnosed late due to its non-specific symptoms. In a bid to explore how personalised treatment options could improve outcomes for lung cancer patients, Dr Carlos Rafael Sousa, Molecular Diagnostics Lab Director at Unilabs Portugal, studied how medical professionals can use advancements in genetic profiling to detect and treat the disease based on an individual’s genetic make-up. 

Why does lung cancer remain the highest cancer-related mortality in the world? 

There are a few reasons behind the high mortality rates associated with lung cancer. Firstly, the fact that lung cancer symptoms are quite unspecific means many people don’t realise they have the disease until it is in its advanced stages, making it much harder to treat.  Access to screening is also an issue, with only three European countries having implemented a National Lung Cancer Screening programme. Even when screening is available, the adoption rate is low. Together, these issues contribute to delayed diagnoses and reduced survival outcomes.

What motivated you to focus on the connection between genetic alterations and treatment choices in lung cancer?

Increasing knowledge around the somatic genetic alterations present in different lung cancers have dramatically improved the ability of medical specialists to personalise treatment plans and improve the prognosis for many patients. Treatment for the most common type of lung cancer, non-small cell lung cancer (NSCLC), requires a tumour’s histology and genetic profile to be carefully assessed. Because of its high mutational load, we use a tool known as next-generation sequencing (NGS) to identify these mutations and select highly-targeted therapies. 

Advances in molecular testing, such as the use of NGS, have improved our ability to target specific cancer cells using tailored drugs. This means we can avoid damage in healthy tissues—and it significantly improves the survival rate and quality of life for many cancer patients.

How will your findings contribute to the development of new treatments for lung cancer?

This research shows that diagnosis is not only important in defining a treatment plan, but that it can also be a catalyst for pharmaceutical research, and for the discovery of new drugs. At Unilabs, we aim to be at the heart and start of all effective treatment decisions and now I would add that we also want to be at the heart and start of any yet-to-be-invented future treatments too.

What are some of the upcoming breakthroughs for lung cancer that your research points to?

Pharmaceutical companies and research groups are committed to discovering new drugs that allow us to provide personalised treatment to each patient and improve their chances of survival. 

I expect we may start to see trials with patients recruited based on the molecular profile of their tumour, which could be the catalyst that drives the discovery of countless drugs in the future. I foresee diagnostic companies, like Unilabs, and pharma working increasingly closely together.

What were the main challenges you faced during your research?

Medicine is a field where innovation is ever-present, and guidelines evolve almost monthly. So, we can gather relevant information that can be potentially outdated in a month’s time. This is something that everybody who works in cancer care—including oncologists, pathologists, and of course those of us involved in research—needs to be aware of and manage,

Are there any technological advances that have significantly aided your research on lung cancer and personalised medicine?

Definitely. Our work with the use of NGS, for example, has allowed us to identify the panels of genes that have helped us to innovate superior, personalised treatments. The feedback from oncologists, and the knowledge our lab work has brought us, have definitely improved our understanding of this topic.

Where do you see lung cancer treatment and personalised medicine in 10 years?

I expect there will be continuous monitoring and adaptation of treatment over time, using tools such as liquid biopsy, or capture of circulating tumour cells (CTCs). I believe we will be able to monitor and react to the evolution of many cancers —caused by the Darwinist process itself that the treatment ends up inducing—by selecting the cancer clones that survive a specific drug or treatment.

How important is public awareness about the role of genetic profiling in lung cancer treatment, and what steps can be taken to increase it?

This is an interesting question and one that brings us to the increasingly growing presence of what I call ‘Doctor Google’. Patients today seek to be informed on new treatment possibilities. The result of this is that patients can help to put positive pressure on healthcare professionals to remain up-to-date and to be more open to new alternatives. Our role will not be to discourage people from seeking information, but rather to provide tools and reliable sources that guide the search for accurate information and reduce the possibility of patient misinformation. By improving public understanding of NGS somatic assays, for example, we could boost awareness and demand for genetic profiling and encourage stakeholders to remove access barriers, which today are mainly financial, and bureaucracy related.

Reference papers

https://pmc.ncbi.nlm.nih.gov/articles/PMC11899562/

https://www.mdpi.com/2075-4426/14/5/446 

Angerilli, V.; Galuppini, F.; Pagni, F.; Fusco, N.; Malapelle, U.; Fassan, M. The Role of the Pathologist in the Next-Generation Era of Tumor Molecular Characterization. Diagnostics 2021, 11, 339. https://doi.org/10.3390/diagnostics11020339

Matias-Guiu, X., Stanta, G., Carneiro, F. et al. The leading role of pathology in assessing the somatic molecular alterations of cancer: Position Paper of the European Society of Pathology. Virchows Arch 476, 491–497 (2020). https://doi.org/10.1007/s00428-020-02757-0 

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