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Advocacy Groups Raise Cancer Patient Awareness of Genomic Profiling, Help Manage Testing Complexity


NEW YORK (GenomeWeb) – At a race to raise awareness of lung cancer, Bonnie Addario saw a “darling little lady” running toward her. Before she knew it, the woman threw her arms around her and said, “Bonnie! Bonnie! You saved my life!”

The lung cancer patient recounted how she had watched a live streamed educational program and learned about the Bonnie J. Addario Lung Cancer Foundation's “Don't Guess. Test.” campaign to raise awareness about precision medicine and comprehensive genomic profiling. Afterwards, she had asked her doctor if she could get tested, but he didn't think she needed it. She got a second opinion, had her tumor profiled, found out she had an EGFR mutation, and was able to receive the EGFR inhibitor Tarceva (erlotinib).

Addario, chair of the eponymous foundation, recently recounted this story to GenomeWeb with some difficulty, her voice raspy and quavering. "I'm sorry, I only have one vocal cord and it hasn't woken up yet this morning,” said Addario, whose own lung cancer story may not have turned out to be one of survival if she, like the patient at the race, hadn't educated herself and advocated on her own behalf.

Over a decade ago, then 57 years old, Addario went to the doctor with searing chest pain. After initially being misdiagnosed, a CT scan revealed a shadow on her left lung, but doctors said they couldn't operate on her tumor because it was in a hard-to-reach part of her aortic arch. However, after reading an article about a partnership between the University of California, San Francisco and Sequoia Hospital near her home, Addario went to see the UCSF thoracic surgeon leading the effort, David Jablons. He took on Addario's case, treating her first with chemotherapy and radiation to shrink the tumor, and then removing the top left lobe of her lung and part of her esophagus.

The procedures paralyzed one of her vocal cords and damaged two major cardiac arteries, but Addario, still cancer free, believes this saved her life. She started the Addario Lung Cancer Foundation to empower other patients with information, so they can become their own advocates.

Raising patient awareness of the latest advances through campaigns like “Don't Guess. Test.” is particularly critical in genomic medicine, which involves difficult, fast-moving science that physicians, regulators, and insurers are all struggling to keep up with. “This is all very complicated,” Maurie Markman, president of medicine and science at the Cancer Treatment Centers of America (CTCA), told GenomeWeb. “It's complicated enough to talk about chemotherapy, radiation, and surgery when an individual is diagnosed with cancer. That's always been overwhelming. But now you have this thing called molecular testing.”

Genomic advances are invigorating research and treatment options for deadly diseases like lung cancer, which has a five year survival rate of below 18 percent. Researchers have identified markers, such as EGFR mutations, ALK rearrangements, and PD-L1 expression, and have been using them as molecular guideposts for advancing precision drugs like Tarceva, Xalkori (crizotinib), and Keytruda (pembrolizumab).

These drugs are extending the lives of some lung cancer patients from months to years, but often patients don't know that they may be candidates for a molecularly targeted drug because they aren't tested for genomic alterations. A global survey earlier this year by drug maker Boehringer Ingelheim found that 81 percent of newly diagnosed advanced non-small cell lung cancer patients received testing for EGFR mutations, an improvement from an earlier survey that showed around 50 percent of patients were getting tested. However, oncologists started one in four patients on first-line treatment before they received information about their patients' mutations status, and 51 percent of oncologists indicated that patients' EGFR mutation status did not impact their therapeutic strategy for those patients. 

The survey pointed to some of the barriers to incorporating genomic information into patient care, such as difficulty getting tumor tissue from patients and test turnaround time. It also suggested that in order for physicians to make use of the information from comprehensive genomic profiling, which instead of testing for a handful of genes, like EGFR and ALK, analyzes hundreds of genes, they will need support for interpreting reports and gaining access to off-label drugs.

It's complicated enough to talk about chemotherapy, radiation, and surgery when an individual is diagnosed with cancer ... But now you have this thing called molecular testing.

Memorable message

“Genomic profiling, along with immunotherapy, is the greatest thing that's happened in lung cancer in decades,” Addario said. The aim of “Don't Guess. Test.” — backed by 17 organizations, including the Friends of Cancer Research, the American Lung Association, and cancer testing firm Foundation Medicine — is to educate patients, so they can have an informed discussion with their physicians about genomic profiling.

The message to test shows up on buttons and T-shirts. Representatives from participating organizations talk about it at educational events and 5K races. The slogan is pithy, memorable, and gets people asking questions. “It's the elevator pitch, where if you had a business card that said 'Don't guess. Test.' and someone asked what it meant, you would be able to explain it between the 1st floor and the 12th floor,” Addario said. “And we can.”

When people ask, Addario and others explain that every lung cancer patient's disease is different, that molecular characteristics of the tumor are one among many of these differentiating factors, and that genomic profiling may be able to identify markers, which in turn could expand a patient's treatment choices or identify clinical trial options.

Testing may not help every lung cancer patient, and there may be cases where a physician rightly determines that genomic profiling isn't appropriate, Addario acknowledged. For example, a patient's tumor may have progressed to a point where getting a biopsy sample for genomic analysis isn't possible. “But we want it to be a consideration,” Addario said.

Moreover, although Foundation Medicine is a partner in “Don't Guess. Test.” and markets a comprehensive genomic profiling test that gauges alterations in more than 300 genes, doctors can decide to order a test from another lab. “This is not a commercial for Foundation Medicine. This is an awareness program for patients,” Addario said, adding that Foundation Medicine's involvement “is giant on their part.”

Recognizing that genomic profiling can often reveal markers that may be targeted by off-label drugs, Foundation Medicine has also been actively working with the advocacy community to help patients and physicians act on the results of its test. For example, last year the company partnered with the Patient Advocate Foundation to launch the FoundationOne CareLine Program, which pairs patients with case managers who can appeal to insurance companies or pharmaceutical firms for access to treatments, or help gain access to investigational drugs through compassionate use programs. 

Contributing to research

In the era of precision cancer care, advocacy is also getting personalized, observed CTCA's Markman. Since some physicians aren't entirely comfortable with genomic information, advocates are stepping in to help patients get testing services and connect them to experts not readily available in community practices.

“The advocacy organizations, from an educational perspective, could be incredibly helpful to individual patients and their families to explain what [genomic profiling] means in general,” Markman said. “And if they have testing and are found to have an X or Y abnormality, [advocates can] potentially help them understand that or get them to an expert in the field.”

The Pancreatic Cancer Action Network, in launching the “Know Your Tumor” program a year ago, is hoping to corral its various resources — a clinical trials database, a patient registry, and a call center that connects with thousands of people each year looking for information — toward getting more patients tested and advancing genomics knowledge in pancreatic cancer.

When a pancreatic cancer patient contacts PCAN's call center, the staff gathers information to determine if their disease is at a stage where they could submit a tumor sample for analysis. If so, staff members inform patients about genomic profiling and gauge their interest in testing.

Since launching “Know Your Tumor,” 400 people have been enrolled in the program, and 127 patients have received genomic profiling from firms like Foundation Medicine and Caris. PCAN is hoping to test 3,000 patients in three years. A personalized medicine services firm called Perthera facilitates the tissue collection, sends the sample for genomic profiling to a CLIA-certified lab, and organizes the review of the test results by a panel of pancreatic cancer experts and molecular biologists, who come up with a list of options for the treating physician. Based on the results, patients could also join a clinical trial from PCAN's database.

Our role as an advocacy group is to survey the whole field and put the pieces together strategically, so they continue to build on each other.

Patients’ test results and treatment outcomes will be stored in a registry that's in final beta testing. PCAN and Perthera are also planning to share patients' experiences from the “Know Your Tumor” campaign at a medical conference in January.

According to Lynn Matrisian, PCAN's VP of scientific and medical affairs, the organization launched “Know Your Tumor” hoping that the genomic revolution would bring new treatment options and research opportunities for pancreatic cancer patients in the way it has for lung and breast cancer patients. Specifically, she hopes that the program will help PCAN double survival rates for pancreatic cancer patients by 2020.

The five year survival rate for pancreatic cancer patients is 7 percent. There are few treatment options and no obvious environmental factors or carcinogens, such as sun exposure in melanoma or smoking in lung cancer. And because fewer patients get pancreatic cancer relative to breast or lung cancer, physicians at community practices see only a few cases a year, making it difficult to develop best practices.

Two years ago, there also wasn't much in the way of genomic knowledge beyond KRAS mutations. “No one gets excited by having a KRAS mutation in their tumor,” said Matrisian, explaining that having such a mutation only informs what treatment a patient shouldn't get.

More recently, there has be reason for optimism as research has put a spotlight on BRCA 1 and 2 mutations that increase pancreatic cancer risk, and uncovered a critical role for alterations in DNA repair genes. Studies have shown that platinum-based treatments and PARP inhibitors might work particularly well in some cancer patients with such markers, and the US Food and Drug Administration has even approved a PARP inhibitor, Lynparza (olaparib), for advanced ovarian cancer patients with germline BRCA mutations.

PCAN launched “Know Your Tumor” wanting to contribute to scientific progress. “Our role as an advocacy group is to survey the whole field and put the pieces together strategically, so they continue to build on each other,” Matrisian said.

So far, Matrisian noted that the “Know Your Tumor” program has been able to identify “quite a few” pancreatic cancer patients who have BRCA2 mutations in their tumors. She estimated that genomic profiling will yield actionable results for between 40 percent and 50 percent of pancreatic cancer patients. “With some more trials, testing, and understanding, we can come up with some very good protocols for molecular subsets of patients,” she said.

Despite the growing demand for genomic profiling among cancer patients, reimbursement remains challenging. Many insurers consider such tests investigational and a few have limited coverage policies. PCAN connects patients to the Patient Advocate Foundation for help in this regard.

“We have been very encouraged [by the fact] that our patients are getting molecular testing and it is getting covered by insurance and they are not getting big bills for that,” Matrisian said.

Addario's group even encourages lung cancer patients to crowdfund the several thousand dollars in costs for genomic profiling among friends, family, and colleagues. The crowdfunding approach has also been embraced by the rare disease community as a way to pay for whole-genome sequencing.

The aim, ultimately, of advocacy groups like PCAN and the Addario Lung Cancer Foundation is to make genomic profiling a standard tool in the physicians' armamentarium, and a readily available part of cancer patients' treatment options. The “Don't Guess. Test.” message is so clear and concise that Addario expects to use it for a very long time. “Well, I can see us not using it if [comprehensive genomic profiling] becomes so commonplace that it's being done all the time,” she said.