A Multi-Level Analysis of Barriers and Promoting Factors to Cascade Screening Uptake Among Male Relatives of BRCA1/2 Carriers: A Qualitative Study.

Abstract

Background: Pathogenic variants in the BRCA1/2 genes significantly elevate risks of breast, ovarian, prostate, and pancreatic cancer. Clinical guidelines recommend cascade screening (CS) to identify at-risk family members and advance genetically targeted disease prevention. However, despite the benefits of CS, testing uptake remains suboptimal, particularly among male first-degree relatives (FDRs) of female BRCA1/2 carriers.

Aims: Little is known about factors that hinder or enhance the implementation of CS in at-risk men in BRCA-positive families. This qualitative study explored multifaceted barriers and promoting factors influencing CS in 11 untested male FDRs.

Methods: Participants engaged in semi-structured interviews exploring their experiences and perspectives regarding CS uptake. Thematic analysis, guided by the Health Action Process Approach, revealed a complex interplay of barriers and promoting factors at individual, interpersonal, provider, and environmental levels.

Results: Key barriers included limited awareness and communication, inaccurate knowledge regarding genetic testing, logistical constraints, and concerns regarding potential psychological outcomes. Potential promoting factors encompassed factors such as men's stage of life, actionability of genetic testing results, perceived benefit of prevention, familial cohesion, and provider direct recommendations.

Conclusions: These findings contribute to a deeper understanding of the factors shaping CS uptake within BRCA-positive families and hold implications for targeted interventions to enhance CS uptake and improve the management of hereditary cancer syndromes. Gender-specific education and public awareness campaigns are crucial, highlighting male cancer risk and surveillance strategies. Exploring alternative delivery methods, such as direct provider engagement with at-risk males, can address challenges of low CS uptake, moving beyond traditional patient-mediated approaches.