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Precision Medicine: Lung and Thyroid
Talking With Your Patients About Precision Medicine for Lung and Thyroid Cancers

Released: February 23, 2021

Expiration: February 22, 2022

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Genetically informed medicine is rapidly becoming the new standard of care in oncology. Precision medicine is at the forefront in the treatment of lung cancer and thyroid cancer where genetic mutations that are considered drivers of growth for these tumors have been identified and drugs that target the driver mutations have been developed. The availability of targeted therapies gives hope to patients with cancer, but it also generates a lot of questions.

Patients are our key stakeholders in precision medicine, and as oncology healthcare professionals, it is our responsibility to educate them about precision medicine, from making sure they grasp the terminology and have access to the appropriate resources to help them understand what is being tested for and why to helping set their expectations about the timing and outcomes of testing.

Precision Medicine Terminology
Patients need to have adequate genetic literacy to be able to engage in discussions with their oncology team about precision medicine. Understanding this new language will allow them to participate in shared decision-making and make informed decisions about their cancer care. In oncology, precision medicine generally refers to the use of genome sequencing to help identify biomarkers that can be used to understand the nature of a patient’s cancer diagnosis. Some biomarkers are prognostic, meaning they provide information about a patient’s overall outcome. Other biomarkers are predictive, giving the likelihood that a cancer will respond to a specific treatment and thereby helping us to optimize therapy decisions. This is the crux for precision medicine in cancer care: to identify predictive markers at the start of treatment such that the most effective treatment for a patient’s specific type of cancer is selected and ineffective treatments that might have harmful adverse events are avoided.

If patients have experience with a “hereditary” germline mutation, as may be the case in the context of genetic testing for thyroid cancer, it is important to help them to understand the difference between germline mutations, which are inherited genetic mutations, and somatic mutations that arise in the tumor while a cancer is developing. Germline mutations have implications not just for the patient; they may lead to cascade testing for family members to determine their risk of developing cancer. Targetable driver mutations are somatic mutations, not germline mutations, and develop independently from the patient’s genome so do not have familial implications.

Informational Resources on Precision Medicine
A great deal of educational materials, both in print and on the Web, are available for patients with cancer. However, resources for patients with cancer vary widely in terms of their accuracy and timeliness, and there is a real potential for obtaining misinformation. Therefore, it is critical for the oncology team to help patients to navigate this sea of available resources to find those that are based on evidence.

Helping patients to become literate in the language of precision medicine, as discussed above, can help them to know what terms to search for when looking for information about their disease or medications. The oncology team can also guide patients to reputable sources of information, such as referring them to the Web sites of national professional organizations. In contrast to institution-specific resources, national professional organizations have the bandwidth to keep their educational resources up to date on a regular basis. Some good examples include the National Comprehensive Cancer Network, the Association of Community Cancer Centers, the National Cancer Institute, the American Society of Clinical Oncology, and the Oncology Nursing Society. Making sure resources are up to date is also important. Whereas a document that a patient finds online may have been accurate 2 years ago, with the rapid pace of advances in cancer care, it may not have the same relevance now. Finally, if a patient comes across information from a potentially questionable source, I ask them to bring it to their next appointment or to give me a call so that I can check the reliability of the source as well as can make sure the information is current.

Setting Patient Expectations About Biomarker Testing

Need for Biopsy
It is crucial to help patients to understand that when they are first diagnosed, the most important thing is that we obtain an adequate amount of tumor tissue to run molecular profiling. In some cases, if there is not adequate tissue initially, we may recommend that a patient have an additional biopsy. However, because there are risks involved in obtaining additional biopsy tissue, we may consider testing a “liquid biopsy,” which is a sample of blood from the patient containing circulating tumor DNA. If a patient is a candidate for this minimally invasive procedure, the oncology team needs to explain that just like testing of tumor tissue, molecular profiling of a liquid biopsy can help guide therapy decisions. However, it should also be noted that if testing results are negative with a liquid biopsy, an additional tissue biopsy may need to be obtained. Regardless of which type of biopsy is used, it is important to stress that the information obtained as to which molecular targets each patient’s tumor has is essential to choosing the optimal treatment for their disease.

Types and Costs of Molecular Testing
It is also the responsibility of oncology healthcare professionals to educate patients about the types of tests that are appropriate and most efficient for each particular type of cancer. These may include tests used to identify point mutations in single genes to broad-based assays, like next-generation sequencing, that assess for a suite of driver mutations all at the same time. Because molecular profiling can be costly, it is also important to choose tests that are likely to be covered by insurance. Considering the recent advances in targeted therapies for the treatment of lung and thyroid cancers, most insurance companies fortunately will cover the cost of testing. However, in circumstances where tests are not covered, which can be a considerable financial challenge for patients, we can assist in helping to find resources for financial support to get the appropriate tests done.

When a Patient Is Suspicious of Testing
Some patients initially do not want to undergo genetic testing because they are afraid the genetic information obtained may have negative repercussions. For example, they fear that this information could lead to their or their family member’s insurance claims being declined. This seems to be of particular concern when assessing for hereditary germline mutations, such as is the case with medullary thyroid cancer. It is reassuring to these patients to remind them that there are privacy laws that protect against the use genetic information of any sort, in particular to influence your insurance.

Turnaround Times for Testing
Biomarker testing takes time. Some tests can take 2-4 weeks for results to come back, especially if a given hospital or facility is not equipped to run these tests themselves and they need to send tests out to an outside facility. Waiting for test results can provoke anxiety for patients, and as oncology healthcare professionals, it is part of our responsibility to help patients manage the additional stress during the wait.

For patients who are medically stable, I try to reassure them by explaining that their disease has likely been growing for several months leading up to their symptoms and diagnosis and, in most cases, is not going to accelerate quickly while we wait for their results to come back. I also reinforce the importance of taking this time upfront to make sure that we choose the optimal treatment for their disease. This is especially important considering that previous therapies have the potential to negatively influence their response to and outcomes with subsequent treatments.

We also try to encourage these patients to use the wait time constructively by getting things done that need to get taken care of in their lives, so that when it comes time to move forward with treatment, they are ready. This could include getting additional diagnostic imaging, financial planning, or family planning. Referral of patients to appropriate supportive care services, such as social work or palliative care services (if appropriate), is invaluable in helping to manage the anxiety and stress. It also provides patients the opportunity to build their relationships with other members of the multidisciplinary team during the wait time.

In some cases, we may not have the luxury to wait up to 4 weeks for test results to come back. If patients’ tumors have very aggressive growth patterns, we may be forced to start patients on broad-based treatment, such as chemotherapy, to get their disease under control while we wait for their test results to come back. In these cases, the test results may influence our ongoing treatment of the patients, and therapy may be switched to targeted therapy if a driver mutation is found.

Interpretation of Test Results
Finally, patients will need help interpreting their test results once they are received. Again, patients may be unfamiliar with the terminology, for example, what it means to have a mutation or a wild-type sequence. We also may need to manage patient expectations about their test results because many patients want to have a certain mutation, and if they do not, there is a risk of them losing hope after testing. This is especially the case if no targeted therapy is available for the type of mutation that they do have. The oncology team can help set the stage at the beginning, as we send biopsies out for testing, by talking through the possible results and what they might mean, thereby hopefully managing their emotional impact once received.

Your Thoughts?
How do you discuss precision medicine with your patients diagnosed with lung or thyroid cancer? Please answer the polling question and join the conversation by posting a comment below.