How Genomic Profiling Can Play a Crucial Role in Lung Cancer Treatment

The treatment of non-small cell lung cancer (NSCLC) has undergone significant advancements in recent years, providing more opportunities for patients and their loved ones. Among these advancements is a deeper understanding of specific genomic drivers in a person’s lung cancer, which can provide insights into the treatment options that may be most effective for them based on their specific cancer type.

Tailoring a person’s care to their specific characteristics as opposed to the standard “one-size-fits-all” approach is called precision, or personalized, medicine. For those living with NSCLC, precision medicine means using comprehensive genomic profiling (CGP), a type of biomarker testing, to look for alterations in the DNA of their tumor cells. It’s crucial that those living with lung cancer feel empowered to take an active role in decision-making early on and speak with their care team about testing to ensure they get matched to the most appropriate treatment for their cancer.

CGP is the most thorough type of biomarker testing, but this type of testing can be unknown to many patients and is often underutilized. So, what is it, and how do patients know when it’s right for them? 

We talked with thoracic oncologist Dr. Geoff Oxnard, to explore how NSCLC leads the charge for CGP. We also discussed how patients can become more involved in their care, including tips on how to talk to their doctor about CGP. 

The Mighty: Can you start by briefly explaining what NSCLC is, including approximately how many people it affects in the United States?

Dr. Oxnard: NSCLC is the most common type of lung cancer. It’s estimated that over 200,000 people will be newly diagnosed with NSCLC in the U.S. this year.  Lung cancer is the leading cause of cancer death in the U.S., and about 80% to 85% of all lung cancers are NSCLC. 

But, thanks to precision medicine, we’ve learned more about the biology of NSCLC, including the origin, behavior, and development of the disease, so we can ensure people receive a treatment that is more targeted to them. By considering specific information such as a person’s genetic makeup, the environment they live in, and their specific cancer type, we are able to rule out treatments that may not be as effective and match a patient to the right treatment at the right time. 

How has treatment evolved over the past several years?

In 2002, researchers conducted a clinical trial that randomly assigned one of four different chemotherapy regimens available at the time to patients who were living with NSCLC, and the results were suboptimal. The good news is that this trial is considered “ancient history” because we’ve made incredible progress. In the past decade, we’ve discovered two new types of therapies that may benefit patients diagnosed with NSCLC: targeted drug therapies and immunotherapies. Both types exist because we’ve learned more about how different cancer cells grow, and we can target those specific cells to slow or block their growth. 

You’ve talked a little bit about precision medicine. Can you explain what precision medicine means for NSCLC?

As I mentioned before, recent discoveries have allowed us to better understand a person’s disease, genes, environments, and lifestyles and tailor their treatment to them. This is called precision medicine, where we connect the “right” patient with the “right” medicine. So, when I first meet with a patient who is feeling hopeless, I am able to say, “There is hope,” because of the potential impact of precision medicine. 

The first step of precision medicine, no matter the cancer type, is genomic profiling, which aims to find a genomic alteration that can change the story of a patient’s treatment journey. When I find a targetable alteration, I can recommend a treatment that will target it, giving us the potential to induce a rapid and durable treatment response. I’ve even had patients say to me, “Except for that moment where I take my medication each day, I can forget that I have lung cancer.” 

You mentioned that genomic profiling is integral to precision medicine. Can you provide an overview of CGP? 

CGP allows a doctor to check for genomic changes in the DNA of a tumor. Those genomic changes are fundamentally what drive a patient’s NSCLC and those specific genomic alterations can lead to cancer growth and spread. So, we can determine what treatment is best for a patient to prevent that growth and spread. 

CGP is done using either a tissue or liquid biopsy of the tumor. A biopsy is a medical procedure that uses a sample of tissue or blood to look for DNA from tumor cells. The DNA is then sequenced using modern technologies to obtain a comprehensive profile of the tumor’s unique genes and molecular structure. For a tissue biopsy, a doctor uses a needle to take a small sample of body tissue from the tumor. For a liquid biopsy, a doctor uses a needle to draw a small sample of blood from a vein, usually the arm. CGP results can typically arrive in one to two weeks after the biopsy. 

Who should consider CGP? 

CGP is standard for any person diagnosed with NSCLC today. The Food and Drug Administration (FDA) has approved several genomic profiling tests, and the National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology recommends biomarker testing for specific types of NSCLC. In my practice, I consider CGP for anyone diagnosed with lung cancer, especially those with advanced-stage cancers. If someone is diagnosed with NSCLC, their health care team can help determine whether biomarker testing, specifically CGP, should be part of their care. 

Why don’t all patients currently undergo comprehensive genomic profiling? 

We’ve talked about how outcomes have improved significantly for lung cancer patients in the past 20 years, but there’s still a lack of awareness around what’s possible. First, we need to make sure that we are messengers of this optimism so others recognize that the story of lung cancer is actively changing. The goal is to ensure that when people hear “lung cancer,” they know they may have options, and CGP can help them understand those options. 

What are some barriers that exist for those considering CGP?

CGP remains underutilized because of the many barriers that exist, including but not limited to a lack of awareness and access to testing. I also understand that cost is perceived as a major barrier. In some cases, Medicare may cover genetic testing for people with a lung cancer diagnosis who meet specific criteria, and many large insurance companies do, as well. Pharmaceutical companies who manufacture the tests may also offer patient assistance programs that provide financial assistance to those who need it. 

How can patients talk to their health care provider about testing? 

In the same way that someone would go to their doctor and ask, “What about getting a PET scan?” or “What about getting a clinical trial?”, “What about getting comprehensive genomic profiling?” should be part of the conversation. If a doctor said that they have already done the testing, their patient could follow up and ensure it was in fact comprehensive testing. A patient’s motivation helps their health care team understand what is important to them. I want patients to feel empowered to be involved in their own care.  

After the testing, the results may be difficult to interpret, but patients can ask their health care team to review the results with them. If a doctor doesn’t initiate that conversation, a patient can call the lab to receive their results and bring them into their next appointment. Patients are allowed to ask questions. If a patient doesn’t know what to ask, they can say, “What does this mean?” or “What do these results mean for my treatment journey?” 

If a patient is currently on a treatment that is working well, they can still ask for testing because the results may be important down the line. Patients can start the conversation by asking, “How can we be ready for what’s next? If I need to switch to a new treatment, can we test now to be better prepared?”

Finally, what advice might you offer someone newly diagnosed with lung cancer regarding CGP?

CGP testing should be a standard part of the conversation. When a patient talks to their doctor about their treatment options, it’s important to understand the diagnosis, including stage and subtype, and their genetic profile. If a patient is not sure where to start, they can always ask, “Could comprehensive genomic profiling provide useful information about my treatment plan?” or “How can I make sure I’ve had comprehensive testing so we know what treatments are the best fit?” By advocating for oneself and asking important questions, patients and their health care team can decide if biomarker testing and CGP are right for them.