How women respond to uncertainty in the context of genetic screening: A qualitative analysis framed by the uncertainty tolerance model

With advances in next-generation sequencing technologies, individuals can seek genetic risk information for multiple conditions. However, feasibility and communication challenges could arise if offering multiple genetic tests simultaneously, such as cancer predisposition testing and carrier screening for pregnancy planning. Genetic screening introduces uncertainty from probabilistic results, ambiguous gene-disease associations, and complex variant interpretation, intertwining with psychosocial concerns impacting decision-making and emotional well-being. This study utilized coding reliability thematic analysis with both a deductive and inductive approach using the uncertainty tolerance model as a framework to explore how reproductive-age women perceive and respond to uncertainty in the context of genetic screening. Through in-depth interviews with 20 women recruited from obstetrics/gynecology clinics, the study revealed cognitive, emotional, and behavioral responses to uncertainty. Participants lacked familiarity with genetic screening but expressed interest in learning more. Positive cognitive responses were associated with desires for proactive health management, while negative responses often stemmed from concerns about test accuracy and potential side effects. Emotional responses ranged from hope and excitement to fear and anxiety, shaping information-seeking behaviors. The study underscores the importance of tailored patient education and communication strategies in genetic counseling to address uncertainty, support informed choice, and alleviate distress. The findings offer insights for improving genetic counseling practices and enhancing patient-centered care.