Staying in the Unknown: Avoidance of Genetic Testing in Families With Hereditary Cancer Syndromes—A Qualitative Study

ABSTRACT

Aims

To explore the experiences and challenges associated with genetic testing decisions among untested individuals from hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) families.

Design

Qualitative descriptive study.

Methods

Semi-structured telephone interviews were conducted between 2022 and 2024 with 56 untested at-risk relatives drawn from the Israeli CASCADE cohort of HBOC and LS families, which comprises carriers of pathogenic/likely pathogenic variants, true negatives (non-carriers) and untested individuals. Interview narratives were analysed using thematic analysis.

Findings

Two overarching themes were generated. (1) Illusion of Mastery, encompassing four categories reflecting internal coping strategies participants employed to maintain perceptions of control, resulting in avoidance of genetic testing: choosing uncertainty as a psychological shield; avoiding anxiety; controlling health through lifestyle; and protecting life stages. (2) Lost in the System, encompassing five categories across two subthemes: (2.1) perceived deficiencies in informational, emotional and familial guidance from the healthcare system; and (2.2) active withdrawal from the system to avoid medical entrapment and preserve personal values, both resulting in avoidance of genetic testing.

Conclusions

Findings suggest avoidance rather than denial or outright refusal of genetic testing, reflecting active decision-making. This avoidance was shaped by a convergence of personal,familial and systemic factors, centered on autonomy, uncertainty management and psychological self-protection, in the context of inadequate informational and emotional support.

Implications for the Profession and/or Patient Care

These findings highlight nurses' potential to support informed, person- and family-centered genetic testing decision-making. Given their accessibility to at-risk families across diverse clinical settings, nurses can address emotional needs, provide clear guidance and acknowledge the psychological complexity underlying testing avoidance. Future studies should explore nurse-led interventions that facilitate informed decision-making while respecting individual autonomy.

Reporting Method

This study adhered to the Consolidated Criteria for Reporting Qualitative Studies (COREQ) guidelines.

Patient or Public Contribution

No patient or public contribution.