Patient Preferences and Understanding of a Precision Medicine Lexicon – Toward the Development of Patient-Friendly, Consistent Terminology

Background: As precision medicine testing and treatment options evolve, the complexity of what patients and caregivers need to understand to be active members of their healthcare team has increased dramatically. Patients and caregivers are overwhelmed and confused by precision medicine terms and explanations of concepts that can vary significantly from provider to provider within and across institutions.

Developing clear, consistent precision medicine terminology is critically important to ensure patients are making informed decisions and receiving optimal care. With this goal in mind, the Cancer Support Community (CSC) developed a precision medicine lexicon that healthcare providers, patients, oncology professional associations, industry, and patient advocacy organizations can mutually adopt.

Objective: To build on the work of the Consistent Testing Terminology Working Group, co-create with patients and caregivers a lexicon related to precision medicine, biomarker testing, and genetic testing to improve patient and caregiver understanding and patient/provider communication.

Methods: CSC’s precision medicine lexicon was developed with input from oncology professionals and then subjected to iterative focus group and online discussion board testing, as well as a survey of respondents representative of US cancer patients and caregivers. The research captured feedback and insights from patients and caregivers regarding clarity, familiarity, and overall understanding of precision medicine terms, such as:

• Gene
• Inherited mutation
• Genetic testing for inherited cancer risk
• Mutations in the cancer’s genes
• Biomarker testing
• Cancer subtype
• Tissue biopsy
• Liquid biopsy

Results:

• Each of the iteratively tested lexicon definitions were scored as clear and understandable (clarity score of 7 or greater out of 10) by 81% to 90% of the survey respondents
• The top terms somewhat or strongly favored by respondents for referring to both inherited mutations and acquired mutations were gene mutation and genetic mutation. For acquired mutation, the terms cancer marker and biomarker were also among the top 4 most strongly favored terms
• Respondents favored or strongly favored the term genetic testing for an inherited cancer risk when referring either to testing people who have not been diagnosed with cancer but have a family history (69%) or to testing people already diagnosed with cancer (69%)
• While there is a multistakeholder effort to use the term comprehensive biomarker testing to refer to testing mutations in the cancer’s genes, more specific terms are needed in cancer types (such as ovarian) where “biomarker tests” that are not genomic tests (to find mutations in the cancer’s genes) have been used for decades. The terms most favored by respondents to our survey that are more specific than comprehensive biomarker testing are gene-based cancer testing (59%) and genetic testing of the cancer (58%)

Conclusions: CSC has developed a precision medicine lexicon that incorporates patient and caregiver preferences and insights. If adopted, it could help contribute to improved patient/provider communication about a topic that patients and caregivers find confusing. The final lexicon will be promoted to healthcare providers, patient advocacy groups, and industry to standardize precision medicine terms that are patient- and caregiver-preferred and definitions that patients and caregivers have indicated are easy to understand.

Ethics Statement: This study was conducted under IRB-exempt protocols [category 45 CFR 46.101(b) 2].

Acknowledgements: This project was supported by grants from AbbVie, Amgen Oncology, Bristol Myers Squibb, Exact Sciences, Foundation Medicine, Genentech, Lilly Oncology, Merck, NeoGenomics, and Takeda.

Sources

Ciardiello F, Adams R, Tabernero J, et al. Awareness, understanding, and adoption of precision medicine to deliver personalized treatment for patients with cancer: a multinational survey comparison of physicians and patients. Oncologist. 2016;21:292-300.

Consistent Testing Terminology Working Group. Common Cancer Testing Terminology. www.commoncancertestingterms.org.

Joseph G, Lee R, Pasick RJ, et al. Effective communication in the era of precision medicine: a pilot intervention with low health literacy patients to improve genetic counseling communication. Eur J Med Genet. 2019;62:357-367.

National Academies of Sciences, Engineering, and Medicine. 2016. Relevance of Health Literacy to Precision Medicine: Proceedings of a Workshop. Washington, DC: The National Academies Press. https://doi.org/10.17226/23592.

Williams JR, Yeh VM, Bruce MA, et al. Precision medicine: familiarity, perceived health drivers, and genetic testing considerations across health literacy levels in a diverse sample [published online August 13, 2018]. J Genet Counsel.

Wynn RM, Adams KT, Kowalski RL, et al. The patient in precision medicine: a systematic review examining evaluations of patient-facing materials. J Health Eng. 2018:9541621.