Women’s Knowledge of Genomic Testing and Precision Medicine in Breast Cancer Treatment Decision-Making

Various factors contribute to the underuse of precision medicine in clinical practice, including lack of patient and/or physician knowledge, concerns about the possible release or misuse of test results, cost, and the lack of genetic counselors. However, advances in genomic testing have led the way toward precision medicine, a treatment that is specific to a tumor's genetic polymorphism. This focused treatment has been found in clinical trials and practice to improve the overall efficacy of cancer treatment. The primary aim of this study was to ascertain the level of knowledge of genetic and genomic testing and precision medicine in a diverse group of women diagnosed with breast cancer(BC). In addition to this aim, the perceptions that women had about their role in decision-making in relation to their physicians' style of presenting treatment information were assessed.

Focus group interviews with 29 Black women and Latinas diagnosed with breast cancer. Transcripts were analyzed using thematic analysis, which allows researchers to draw themes from the experiences and knowledge of the participants. Two researchers agreed on a specific number of codes, which were organized and compiled into themes. Two main themes and several sub-themes were identified.

The main themes noted were ambiguity and uncertainty with genomic testing and the role of the physician as decision maker. The themes found were (a) ambiguity and uncertainty and (b) the role of healthcare providers. The themes shared a focus on aspects of obtaining necessary knowledge to potentially allow for a shared decision-making model in the treatment of breast cancer, including lack of adequate knowledge, need for more information, the source and timing of information, and the women's perceptions of their providers as sources of information and support. Many of the women understood the concept of genetic testing to identify the BRCA1/BRCA2 variant, but none of the women were aware of genomic testing and its treatment implications for personalized medicine. Participants discussed treatment decision-making, identifying various roles the physician might play in treatment planning, from primary decision-maker to collaborator. All the women recalled discussions with their physicians about genetic testing; however, it was clear they were more likely to be thinking of BRCA1/BRCA2 testing rather than testing of the tumor to allow for focused treatment (i.e., genomic testing).

A woman's understanding of her disease and treatment can be expected to play a role in her readiness for shared decision-making, specifically in complicated decisions related to precision medicine. When considering knowledge and understanding of information provided to patients with BC in general, the theme of ambiguity and uncertainty also emerged in the context of women's experiences of getting a large amount of or too much information and being unable to fully understand it. Providers need to consider cultural factors as well as level of health literacy in their attempts to explain potential treatments so that patients can feel they are actively participating in shared decision making as well as having access to cutting-edge treatments for breast cancer.