Cancer Stakeholders Call for Consensus of Terms to Encourage Patients’ Genetic Testing
Cancer patients aren’t getting the testing they need for precision medicine, partially because of pervasive confusion regarding terminology, according to a whitepaper released July 7 by the Consistent Testing Terminology Working Group. This is a 41-stakeholder working group of patient advocacy, professional society and pharma/biotech/diagnostic testing partners.
To put the testing shortfall into perspective, only 7% of lung cancer patients in community oncology programs are tested for all seven of the biomarkers recommended in the National Comprehensive Cancer Network (NCCN) Guidelines. Slightly fewer than 27% of patients with gastrointestinal stromal tumors (GIST) are tested for the KIT mutation, recommended by the NCCN. The testing figures for metastatic colorectal cancer patients are much higher, but 40% still do not receive the recommended biomarker testing, according to the working group, which is an outgrowth of the Pan Tumor Precision Medicine & Biomarker Testing Roundtable convened by LUNGevity Foundation.
The whitepaper, “Using Consistent Terms in Precision Medicine to Eliminate Patient Confusion,” outlines a long list of reasons why so few people receive genetic testing. They include limited sample availability, lack of provider support for or knowledge about testing, limited lab access and poor insurance coverage. Confusion was another factor. Patients didn’t understand what testing was available, what information the tests provided, when they were needed, and how they affected therapy.
“Patients are struggling with the terms that bombard them after receiving a diagnosis, and that bombardment continues if their disease progresses or they have a reoccurrence,” Nikki Martin, director of precision medicine initiatives, LUNGevity, told BioSpace. “The advocate organizations use different terms, and so do the testing companies, labs, pharmaceutical companies and biotech firms. It all funnels down to patients, and we all play a role in confusing them. So, let’s all play a role in simplifying their experience.”
With this whitepaper, the working group is trying to harmonize the vocabulary used throughout the industry, increase patient literacy about lab testing and empower patients to ask for the appropriate tests for their disease and disease state.
In preparing the whitepaper, the working group identified “33 terms used to communicate with patients about germline mutations, somatic mutations, and other biomarkers. In many cases, multiple terms were used to describe the same test.” Germline testing, genetic testing and genomic testing, for example, commonly are confused.
Martin noted that, anecdotally, “Caregivers are bombarded by a variety of terms, too, and often use them improperly or interchangeably. Genetic testing isn’t the same as biomarker testing.”
The working group developed broad, consensus definitions for three terms in particular.
It uses the term “biomarker testing” to refer to the analysis of specimen from neoplastic tissue to look for relevant mutations, gene alterations, proteins, and/or other biomarkers.
It uses two terms to refer to germline testing. As the working group wrote, the phrases “‘genetic testing for an inherited mutation’ and ‘genetic testing for inherited (somatic) cancer risk’ were selected as consensus terms for tests to identify germline (acquired) mutations.” Those phrases were recommended by lay stakeholders after extensive patient survey, in the belief that the more scientifically accurate term, “germline testing,” would confuse most patients.
The need for clarification is directly proportional to the growth of precision medicine, particularly in oncology.
“The words that all of us use to speak to patients about testing is the first step in their ability to access precision medicine. Having everyone use consistent, plain language will make a big difference in terms of increasing patient empowerment and buy-in,” Martin said.
Results from tests to identify key characteristics about tumors and hematologic malignancies, or about hereditary or environmental cancer risks are the cornerstone of precision medicine, she elaborated. “If patients don’t understand the terms, there’s a chance they won’t have the right conversations with their providers – especially at the community cancer center level, where 80% of cancer patients are treated.”
If those conversations aren’t as productive as they should be, physicians’ abilities to select the most appropriate approved therapies may be hampered. Additionally, because so many clinical trials are based on biomarker testing, fewer patients will be enrolled, thus limiting their access to leading-edge therapies. Not learning about inherited risks furthermore prevents patients and their families from making informed lifestyle choices that could affects their risks of developing cancer.
Likewise, patients – and sometimes caregivers – don’t understand why repeated testing for somatic mutations or other biomarkers may be required after either a failed therapy or disease progression. Consequently, patients are uncertain about what kinds of tests they need, what kind of testing they may have had, whether the testing was appropriate, and what it all means for their care plans.
Developing consistent terminology, therefore, can increase patient understanding and communication and also facilitate shared decision-making, support value-based care and assure agreement in policy development. Ultimately, patients can have more informed conversations with their caregivers.
Members of the working group pledged to begin using these three terms consistently in their communications and are trying to make supporting materials more widely available to alleviate confusion. “These are the most plain language terms possible,” Martin said. “It’s important to use language that doesn’t scare people. This language resonates with patients.”
The next goal is for organizations that develop testing guidelines (such as NCCN) to adopt these terms. “They don’t need to replace the existing terms, but they should ensure these at least are identified as sub-terms providers will see,” Martin said. “How providers discuss terms affects testing.”
Looking further into the future, Martin said the working group plans to evolve into a pan-cancer alliance to address barriers to testing. The group also expects to expand the stakeholder base to include additional professional oncology associations and caregiver groups, as well as payers.