Experiences across a genetic screening and testing programme pathway: a qualitative study of mammogram patient perspectives

Abstract

Background: Population-based genetic screening and testing programmes have substantial potential to improve cancer-related outcomes through early detection and cancer prevention. Yet, genetic testing for cancer risk remains largely underused. This study aimed to describe barriers and facilitators to patient engagement at each stage of a California-based genetic screening programme, from completing the electronic screener to receiving the test and to identify potential improvements that could support precision medicine-based approaches to patient care.

Methods: We conducted 26 semistructured interviews among programme participants who did not complete the screener (n=9), those who did not receive the recommended test (n=7) and those who received a genetic test (n=10). Interviewees were selected from patients who recently received a mammogram through one of the participating Southern California clinics. Interviews were transcribed and coded using Atlas.ti. The study used a qualitative descriptive approach to identify similar and contrasting themes among the participant groups.

Results: This study found that barriers and facilitators to engagement were largely the same regardless of how far participants had moved through the process towards getting a genetic test. We identified four overarching themes: participants wanted clear communication of personal benefits at each stage; participants needed additional information and knowledge to navigate genetic screening and testing; a trusted provider could be instrumental in participants following a recommendation; and repetition and timing strongly impacted participants' likelihood to engage.

Conclusions: Providing education about the benefits of genetic screening and testing to patients and their families, as well as clear communication about what each step entails may help patients engage with similar programmes. Strategies aimed at increasing coordination among a patient's healthcare team can also help ensure information reaches patients in multiple ways, from multiple providers, to increase the likelihood that recommendations for testing come from trusted sources, which supports the uptake of genetic testing.

Keywords: cancer genetics; mass screening; patient satisfaction; quality improvement.

Figure 1. CARE Program workflow. *National Comprehensive Cancer Network. CARE, Comprehensive Assessment, Risk, Education.