Cancer genetic testing uptake in the primary care setting: Patient perspectives on barriers and facilitators throughout the testing process

TL;DR

This study explores how patients in primary care settings experience and perceive genetic testing for hereditary cancer risks, identifying barriers and facilitators throughout the process.

Contribution

The study reveals how patient readiness for genetic testing can change over time and highlights the need for repeated testing opportunities.

Findings

Limited access to technology and financial struggles hindered some patients from completing the risk assessment.

Privacy concerns and fear of insurance discrimination were common reasons for declining genetic testing.

Patient readiness for testing changed over time, with some initially declining later requesting testing.

Abstract

Genetic testing for gene variants associated with hereditary cancers can help with cancer prevention, early detection, and treatment. However, testing has not been well integrated into primary care settings where its preventative impact can be realized. To explore patient‐level barriers and facilitators throughout the genetic testing process in primary care settings, we conducted a thematic analysis of semi‐structured interviews with 31 patients within the Early Detection of Genetic Risk (EDGE) study who had not completed the risk assessment (n = 2), had completed the risk assessment but were ineligible (n = 8), had declined testing (n = 10), and had completed testing (n = 11). Interviewees were broadly interested in genetic testing. Those who did not complete the risk assessment cited limited access to technology, exacerbated by health and financial struggles. Several interviewees who completed the risk assessment but were deemed ineligible for testing indicated that their lack of knowledge about biological relatives prevented complete responses to the risk assessment. Those who opted out of testing cited concerns over privacy, insurance discrimination, and potential psychological burden. Notably, the majority who declined testing were unsure if they would refuse again in the future, and three went on to request genetic testing after being invited to complete an interview. Those who changed their minds about testing stated changes in life circumstances (such as obtaining life insurance) that facilitated openness to testing. Patients who completed testing shared similar concerns to those who declined but were motivated by their familial cancer history and believed genetic testing could lead to preventative options. A key finding of this study was that patient readiness for testing changed over relatively brief follow‐up times. These results highlight the need for practicable approaches to re‐offering genetic testing to individuals over time.

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