By Janine Guglielmino and Sue Friedman
On a chilly Saturday in winter 2019, before the pandemic forced us online, hundreds of patients with metastatic breast cancer crowded into a conference hall to hear a world-leading medical oncologist discuss precision medicine. At the start of the program, I explained we had organized our discussion by breast cancer subtype, and I asked why subtype remained a key concern in delivering breast cancer treatment. During a wide-ranging presentation, the doctor offered clear and concise explanations of each subtype and its targets, the tests and procedures needed to identify them, and the standard and emerging therapies that could be paired with those targets.
Afterward, flush with confidence that we had effectively armed our audience with information to make informed treatment decisions, I noticed a couple making a beeline for me. The man hesitated as he explained that his wife, standing beside him visibly shaken, had been diagnosed with metastatic disease just a few months ago. Why, he asked, was she ineligible for so many of the treatments we had just discussed? As he listed the names of several medications she was taking, it quickly became clear the couple did not understand the connection between subtypes and cancer targets. What we thought we had so clearly stated during our program was but more noise in an undecipherable language the couple had been forced to understand during their initiation into the world of breast cancer treatment.
What had gone wrong? My colleague Sue Friedman, the executive director of Facing Our Risk of Cancer Empowered (FORCE), and I have had hundreds of similar conversations with patients with cancer over the years. Patients leave their doctor’s office with little or no understanding of their diagnosis and spend hours combing Dr. Google and Facebook, searching for clues to put the puzzle pieces together. That’s when they come to us.
As advocates, our ability to help patients sort through their treatment options and find relevant support and information is directly tied to their ability to understand their diagnosis. Lack of access to their test results, use of jargon, inconsistent terminology to describe tests and test results, and a minefield of digital health misinformation converge to make this effort more challenging.
A persistent theme is patient confusion over the language we use to describe the most basic aspects of treatment, including the testing terminology that drives physician and patient choices. And the terminology is growing more complex, not less. With the growth of precision medicine, patients with breast cancer must now understand not only breast cancer subtypes but also the differences between acquired and inherited gene mutations. As the field adds more tests that look for specific tumor biomarkers, it is vital that patients understand how the results influence their treatment choices.
To better define the challenges patients face, FORCE and Living Beyond Breast Cancer (LBBC) conducted a survey in early 2019 to assess gaps in patient understanding of precision medicine.1 Nearly 650 respondents, primarily U.S. women, answered questions about understanding their pathology report, additional tumor test results, and results of genetic testing for inherited mutations. Of those who reported having any type of tumor testing, 46% said they did not fully understand the results. Most said they did additional research on their own. Understanding of genetic testing for inherited mutations fared better, but many respondents expressed confusion about the differences between genetic testing for inherited mutations and tumor testing for mutations found in the tumor. As one person shared, “Some people talk about the TUMOR having a BRCA mutation, versus the WOMAN having a BRCA mutation. I still don’t get that.”2
Health Literacy Affects Access to Care
The traditional definition of health literacy focuses on the individual, putting the responsibility for understanding information on the patient rather than the provider. But this is starting to change. The Healthy People 2030 initiative of the U.S. Department of Health and Human Services defines health literacy in two ways3:
- Personal health literacy is the degree to which individuals have the ability to find, understand, and use information and services to inform health-related decisions and actions for themselves and others.
- Organizational health literacy is the degree to which organizations equitably enable individuals to find, understand, and use information and services to inform health-related decisions and actions for themselves and others.
Importantly, this definition recognizes that health literacy is a societal responsibility; it is up to all of us to improve patients’ ability to understand and communicate about the medical information they have been given in order to improve their health outcomes.
Advocacy groups across cancer types recognize that patient confusion about medical jargon is a barrier to accessing precision medicine. To begin to address this problem, the nonprofit organization LUNGevity convened the Consistent Testing Terminology Working Group, a 40-member stakeholder group of patient advocacy organizations, professional societies, pharmaceutical and diagnostic companies, and laboratories.
Similar to FORCE and LBBC, LUNGevity had identified patient confusion around testing terminology as a significant contributor to eligible patients missing out on biomarker-driven care. In the lung cancer space, where multiple targetable mutations exist to deliver optimal treatment, the lack of harmonized language has led to confusion about testing purpose, types, and timing of results before starting therapy. Far fewer patients with lung cancer receive biomarker-driven testing than are eligible for it.4 FORCE and LBBC joined this group, which met regularly for over a year to develop consensus recommendations on plain language terms that describe biomarker and germline genetic testing that could be applied across cancer types and tests.
A Confusing Landscape of Terms
We began with a brief landscape assessment, which identified that our organizations used 33 separate terms to describe tests for germline mutations, somatic mutations, and other biomarkers in patient education materials—in some cases, several different terms were used to describe the same test; in others, similar words were used for very different tests. It’s no wonder patients have difficulty deciphering and communicating about the types of tests they already had and those they need or should request. As germline and tumor mutations vary in importance for treatment selection across cancer types, many of our organizations used some variation of the terms “genetic testing” or “genomic testing” to describe tests looking for mutations in the tumor or the germline, which serves as a point of confusion for the general public. As one respondent to our survey told us, “I wish there was a dictionary for all common tumor mutations that was accessible to patients, both in terms of getting it and in terms of understanding it.”
Developing consensus terms among such diverse organization and cancer types is not a straightforward task. There is great variability in the number and type of targetable mutations and the existence of formal guidelines based on cancer type. Some advocates represent multiple cancer types or, in the case of our two organizations, represent cancers that have both somatic (acquired) and germline (hereditary) mutations that may guide treatment recommendations. Some of the participating organizations focus on educating patients but, importantly, stakeholders representing clinicians and industry also participated.
The challenge is that for clear communication to happen, all stakeholders must use the same language. We all recognized that harmonizing the testing vocabulary could increase patient literacy and improve health outcomes. A shared language empowers patients with greater self-efficacy to communicate with providers and increases the chances they will receive optimal, guideline-driven care through shared decision-making.
Our working group ultimately chose two umbrella terms. “Biomarker testing” refers to tests that identify characteristics, targetable findings, or other test results from cancerous tissue. We recognize the limitations of this broad term, and agreed individual organizations may wish to add descriptive detail for their specific disease state. Tests that identify germline mutations or variants are referred to as either “genetic testing for an inherited mutation” or “genetic testing for inherited cancer risk.”
From our perspective, these terms collectively address a key confusion in the breast and ovarian cancer space, between tests conducted on cancer tissue for acquired mutations and those conducted on healthy tissue for hereditary mutations. We more deeply describe our methodology and process for selecting these terms in a white paper, infographic, and other materials available on the Common Cancer Testing Terminology website.
Health literacy is a shared responsibility among all health care stakeholders. As advocates, we believe it is our role to build bridges among health care professionals, industry, and biotechnology to improve equitable access to these tests. Now the next step in our hard work begins—building support for utilization of the consensus testing terms among the key stakeholders serving our communities.
As part of this effort, FORCE and LBBC will survey colleague organizations in breast, ovarian, and other spaces in the coming months about their use of testing terminology and willingness to support the consensus terms, as well as barriers to utilization. We will communicate with supporting health care professionals about the need for consistent vocabulary, and scrutinize the language used within our programs, services, and content. We are hopeful our collective efforts will contribute to the systems change necessary to support our patients and our communities. A successful campaign will move the needle forward in increasing access to appropriate biomarker testing as part of standard treatment.
In the meantime, we are doing our part to drive understanding and raise health literacy. As I listened to the husband and wife explain their confusion and frustration the day of our program, I searched across the table for a clean napkin. There, I sketched an inartful picture of a lock and key to help them visualize hormone receptors. I spoke briefly about breast cancer subtypes. When I saw a light of recognition in their eyes, I called over one of our health care professional speakers. And I hoped the couple was on their way to feeling a little less vulnerable, and a little more informed, as they began to travel the long and unfamiliar road ahead.
Ms. Guglielmino is the vice president of mission delivery at Living Beyond Breast Cancer (LBBC). She represents LBBC on the Metastatic Breast Cancer Alliance and is a member of the advocacy and outreach committee of the National Accreditation Program for Breast Centers (NAPBC). Follow her on Twitter @janinegug. Disclosure: Ms. Guglielmino has no relationships to disclose.
Dr. Friedman is the founder and executive director of Facing Our Risk of Cancer Empowered (FORCE). She is a 25-year breast cancer survivor with a BRCA2 mutation. Follow her on Twitter @force4sue. Disclosure.
- Friedman S, Guglielmino J. Breast Cancer Patients Need More Information on Precision Medicine, Tumor Testing and Genetics. FORCE Blog. Jul 15, 2019.
- White Paper on the Need for Consistent Terms for Testing in Precision Medicine. Accessed Feb 17, 2021.
- Centers for Disease Control and Prevention. What Is Health Literacy? Reviewed Jan 28, 2021.
- Mason C, Ellis PG, Lokay K, et al. Patterns of Biomarker Testing Rates and Appropriate Use of Targeted Therapy in the First-Line, Metastatic Non-Small Cell Lung Cancer Treatment Setting. J Clin Pathways. 2018;4:49-54.