Genetic testing and molecular profiling can be the key to better outcomes for patients with pancreatic cancer by allowing oncologists to implement more targeted therapies.
Genetic testing and molecular profiling (also known as tumor or somatic testing) can give patients with cancer the chance to significantly improve their treatment outcomes. These tests identify specific genetic alterations that are carried by the patient or within the patient’s tumor, allowing oncologists to use targeted therapies that work better with those genetic changes. As with breast cancer and lung cancer, targeted therapy can lead to better treatment efficacy and improved survival rates.
Genetic testing and molecular profiling can be the key to better outcomes for pancreatic cancer as well. Yet not all patients are aware of the importance of these tests, and some hesitate to let their provider run them. How can we ensure that these 2 critical tests are part of the standard of care for every patient with pancreatic cancer?
Genetic or germline testing can find inherited mutations in non-cancer cells. About 10% of pancreatic cancer cases are hereditary, caused by genetic or germline mutations in a person’s DNA that are handed down from their parents. Genetic testing looks for mutated genes in cells that have been present in the body since birth to determine if a patient has inherited pancreatic cancer.
Molecular profiling looks closely at the cancer cells themselves. The remaining 90% of pancreatic cancer cases are caused by mutations that accumulate over time, known as somatic mutations. Molecular profiling or genomic testing is conducted on samples of tumor tissue. This test analyzes DNA, RNA, and protein in cancer cells to extract information that may be used to inform treatment decisions.
Explaining the ins and outs of genetic testing and molecular profiling in a way that the patient can appreciate their effectiveness is critical, especially for those who are unsure about testing.
First, patients need to know that genetic testing is part of the standard of care for pancreatic cancer, per National Comprehensive Cancer Network (NCCN) guidelines, so it should be done at the start of treatment for every patient. Oncologists or surgeons can coordinate with genetic counselors to set up genetic testing, which is done via the collection of bodily fluid or tissue, such as saliva, blood, or cheek cells. It can be a simple, fast, and minimally invasive procedure with life-saving benefits.
The most salient reason for patients to have genetic testing is to create a targeted treatment plan. Patients with BRCA mutations, for instance, respond better to platinum-based drugs and PARP inhibitors. Genetic testing also improves understanding of family history and can uncover mutations that prove crucial to treatment decision-making.
Patients should also be made aware that medical genetic testing is different from the genetic testing done through private companies. 23andMe or AncestryDNA can help patients understand their ancestry, but the results will not identify genetic mutations that may be relevant to medical treatments.
Tumors are as unique as their owners. Patients with the same types of cancer will not necessarily respond in the same way to the same treatments. Molecular profiling offers a personalized approach. Once a tumor is found and biopsied, doctors order molecular profiling to possibly match patients with targeted treatments, though unfortunately, there are times when there is not enough material from the biopsy for testing.
Aside from impacting treatment, other key reasons exist for patients with pancreatic cancer to have genetic testing and molecular profiling. This knowledge can make a patient eligible for clinical trials to test new treatments that may work more effectively with specific mutations. This is a boon for patients with pancreatic cancer who may acquire access to cutting-edge therapies from day 1 of their treatment plans. Read more about the advantage of clinical trials for patients with pancreatic cancer in Let’s Win’s previous blog.
In addition, genetic mutations can be passed on to the next generation. BRCA1, BRCA2, and PALB2 increase an individual’s risk of pancreatic cancer. Correspondingly, a person’s risk for developing pancreatic cancer increases by 5% for each direct relation (eg, parent, sibling, or child) that has the disease. Genetic testing can provide an advance warning to those who may inherit cancer-based mutations in the future.
With just a 13% survival rate, pancreatic cancer is the third-deadliest cancer type today. Results of an analysis of patients enrolled in a PanCAN program called Know Your Tumor® showed that those patients who could be matched to a treatment geared to the specific molecular profile of their tumors lived longer, according to a study published in Lancet Oncology in April 2020.
Unfortunately, awareness of and access to testing is disparate among varying populations. Reaching underrepresented communities and encouraging them to participate in genetic testing and molecular profiling is critical. Outreach starts with doctors and trusted partners who can provide reassurance, information, and resources for these tests and what they might indicate.
Oncologists may need to encourage their patients if they are hesitant to do it. Many hospitals make it easy by having genetic counselors on staff. Likewise, many insurance plans cover the procedures.
By the time a patient reaches an oncologist, the cancer diagnosis has already been made. Sharing information about genetic testing and molecular profiling is an important part of cultivating a more informed plan and offering better treatment options for these patients.
Let’s Win consolidates a wide and deep spectrum of information, resources, and support for those at risk of developing pancreatic cancer, those who have already been diagnosed, and those who are supporting and treating them.
When it comes to the devastating diagnosis of pancreatic cancer and similar diseases, genetic testing and molecular profiling can make a huge difference. One extra day, month, or year for that patient will have been more than worth the effort.
This blog was written by Let’s Win Pancreatic Cancer, an organization that guides patients who have been diagnosed with pancreatic cancer to vital information for better outcomes.
For more educational resources on cancer diagnostics, visit the ACCC website.
Understanding both the benefits to be had from offering BsAb therapy to its community and the scope of this undertaking, Vanderbilt-Ingram Cancer Center took a novel approach with its APP-led BsAb step-up dosing clinic, which won the program a 2026 ACCC Innovator Award.
