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Patient Education Project Identifies Need for Consistent Terms in Cancer Testing


This article has been updated to correct Eric Konnick's title and the results of the patient survey.

NEW YORK – Research led by the LUNGevity Foundation and funded by industry partners of LUNGevity's Take Aim Initiative has found that consistent terminology for cancer testing is needed to improve patients' understanding of the care they're receiving.

In vitro diagnostic testing is increasingly being integrated in cancer care to direct treatment or assess patients' inherited cancer risk. However, the rapid growth of options in the testing space, the increasing number of genetic mutations identified as playing a role in cancer, and the varying terminology for describing testing can be confusing for cancer patients trying to navigate their own care.

According to a white paper published last week by the LUNGevity Foundation, a nonprofit lung cancer-focused research and education organization, cancer patients are often perplexed about what genomic testing to ask for, what testing they've had, which tests are appropriate for their specific condition, and how certain testing fits with their care plan. These concerns are what led LUNGevity to launch a project about consistent testing terminology with a working group of 41 stakeholders from patient advocacy groups, professional societies, drug companies, and diagnostics firms.

The project's working group identified 33 terms currently used to communicate with cancer patients about testing for germline and somatic mutations, genomic signatures, and other biomarkers. The group then narrowed these 33 terms down to two recommended umbrella terms: "biomarker testing" to describe somatic testing and "genetic testing for an inherited mutation" or "genetic testing for inherited cancer risk" to describe germline testing.

Before settling on these umbrella terms, the working group surveyed cancer patients to gauge how familiar they were with certain testing terms and if they had any preferences. The survey, which had more than 300 respondents from the hereditary cancer community and about 1,700 respondents from the broader cancer community, revealed that patients preferred to use "genetic testing for an inherited mutation" or "genetic testing for inherited cancer risk" to describe germline genetic testing.

"Developing consistent terminology can reduce patient confusion, improve communication, facilitate shared decision making, support value-based care, and assure concordance in policy development," the authors said in their white paper.

For the last year, the LUNGevity Foundation has made the consistent terminology project its focus. However, the organization has been researching the topic within the lung cancer community since 2015, said Nikki Martin, lead author of the white paper and director of precision medicine initiatives at LUNGevity. The idea to write a white paper that expands on the consistent terms to include all cancers, along with a collaboration with other stakeholders in the patient advocacy and life sciences community, grew from LUNGevity's previous research, conversations with other patient advocacy organizations and professional societies about the inconsistency in cancer testing terminology, and through word of mouth as working group members shared the goals with other stakeholders who expressed an interest in joining the project, said Martin.

"It was just very interesting that within just the advocacy world and in the cancer space, we were all using different terms," said Martin. "We thought if we're ever going to be working together as a pan-cancer advocacy world, if we're ever going to address barriers to testing and barriers to precision medicine for our patient community, then we're going to have to start by first helping patients understand what testing is by using common language."

As an example, Martin noted that in lung and colorectal cancer, patient advocacy groups commonly use "biomarker" testing in patient education. But for other cancers, terms such as "mutational" testing, "genomic" testing, "molecular" testing, or" tumor profiling" are used. Another example is the term “genetic testing” can often be confused with “genomic testing” and even “biomarker testing” in the clinic, which can be confusing and misleading to patients, said Martin.

More confusion ensues if the tests that will be conducted haven't been explained well to patients by their healthcare provider. Nurses have recounted to Martin how patients may not show up for a biopsy or test because they got tested through the popular direct-to-consumer testing firm 23andMe, and the test was negative.

The company tests for three BRCA1/2 mutations that tend to show up in individuals of Ashkenazi Jewish ancestry, for example, but many in the medical community don't consider this test complete and wouldn't rely on it to assess inherited breast and ovarian cancer risk for their more diverse patient population. However, patients may not understand the difference between the type of testing they're getting from a company like 23andMe and from a clinical laboratory that their doctor orders testing from.

When stakeholders surveyed patients for the white paper, however, it revealed that patients want to have a better understanding of the cancer testing landscape and the terms used to describe their testing options. One patient, for example, wished there was a dictionary for patients to learn about all common tumor mutations.

Resolving inconsistency in testing terminology is not only important for patient education, but also for equitable access to testing, the white paper noted. For example, the US Food and Drug Administration has approved therapies for multiple molecular subtypes of lung cancer, but only 7 percent of patients receiving care in the community care setting, where most cancer patients are treated, are being tested for all seven of the biomarkers that are included in the National Comprehensive Cancer Network's (NCCN) guidelines.

Moreover, despite guidelines from NCCN and others recommending genetic testing in certain groups of cancer patients for their inherited risk, testing rates are below 50 percent for most populations, including those with breast cancer at age 45 or younger, triple-negative breast cancer at age 60 or younger, as well as for ovarian, pancreatic, metastatic prostate, or male breast cancer patients at any age.  

Although there are different guidelines for when cancer patients should receive germline and somatic testing, there is increasing awareness in the cancer community that both types of tests can inform choice of therapy and help identify investigational drug trial opportunities. However, not all cancer patients receive both types of tests. As such, it is critical that physicians and patients learn to distinguish between these types of tests and understand their differences in terms of what can be learned and what can be missed.  

"Despite the imperative for testing to support the ability of patients and providers to make informed decisions about treatment options, too many patients across cancer types are still not receiving testing at diagnosis, after progression/recurrence, or as part of the treatment decision-making process," the stakeholders wrote in the report.

The white paper recognized that there are many reasons why biomarker and germline genetic testing is underutilized across cancer types, such as limited access to medical genetics experts and genetic counselors, insurance coverage and prior authorization policies, and limited sample availability. "It's a multifaceted issue, but certainly the confusion about terminology can't help it," said Sue Friedman, executive director and founder of Facing Our Risk of Cancer Empowered (FORCE), the patient advocacy organization that led the patient survey.

The authors of the white paper hope that using consistent testing terms will become a best practice for patient education and communication, allow patients to better understand their needs, and give patients the verbal tools needed to communicate with providers about testing, said Martin. It's possible that this type of communication could increase the uptake of testing, but there would need to be further research to measure the correlation between consistent terms and testing rates, she said.  

Eric Konnick, an assistant professor in the department of laboratory medicine and pathology at the University of Washington and a member of the working group, said he believes that consistent language will empower patients, particularly those with rare tumors, to advocate for themselves, learn what the current standard of care is, and get the tests that will help guide their care, even when their providers can't help them.  

"I think something as simple as terminology has the potential for having large systematic effects," he said.    

Going forward, the stakeholders hope to work with different organizations like the NCCN and encourage them to layer the consistent language into their practice guidelines. In the near term, those involved in the white paper will be using these terms in their own work.

Friedman for one committed her organization, FORCE, to using these terms. "It's about plain language and communication," she said. "It may seem like a small matter, but it may be the difference between someone reading something that would be relevant to them and recognizing that it is relevant to them."

To ensure that these terms take hold in the cancer community, the authors of the white paper would like them to be integrated into educational materials for patients, such as short videos that explain genetics concepts that can help patients with their decision-making. They also hope that the terms will be used more readily by healthcare providers and experts in the field, in webinars, presentations at national meetings, and peer-reviewed publications.

Martin acknowledged that it may be challenging to identify and reach out to the right provider groups that can help promote the findings from the white paper to more of their members, establish connections in the cancer community, and gain the trust of professional societies like NCCN. "We knew that we needed a vehicle to educate providers, so we agreed that writing a white paper is a credible and direct task," said Martin. "What we're asking is that providers use this language more consistently, and we're going to need time to build those relationships."

In the long term, the group has ambitions to convince payors and legislators that these consistent terms are needed for cancer patients and is considering forming a coalition, led by a multi-stakeholder steering committee, for that purpose.