PERCEPTIONS OF GENETIC TESTING FOR HEREDITARY DISEASES AMONG AT RISK FAMILIES

Background: Genetic testing for hereditary diseases presents significant opportunities for early diagnosis and preventive care, yet its uptake among at-risk family members remains inconsistent. While biomedical frameworks guide testing protocols, less is known about the lived experiences and social factors that influence how individuals interpret, communicate, and act on genetic risk. A qualitative approach is essential to explore the emotional, relational, and cultural dimensions of these experiences. Objective: This study explores the perceptions, emotional responses, and communication practices of at-risk family members offered genetic testing for hereditary conditions. Methods: A qualitative phenomenological design was employed. Twenty-two participants were purposively recruited from three genetic counseling clinics. Data were collected through semi-structured, in-depth interviews and analyzed using Braun and Clarke’s thematic analysis framework. Trustworthiness was ensured through member checking, researcher reflexivity, and triangulated coding. Results: Three key themes emerged: (1) emotional navigation of genetic risk, including fear, uncertainty, and generational guilt; (2) communication challenges within families, with variability in disclosure practices; and (3) perceived value and consequences of testing, shaped by cultural beliefs, health literacy, and personal experience. Differences in understanding and emotional readiness influenced both testing decisions and family discussions. Conclusion: The study highlights the complex emotional and relational landscape surrounding genetic testing in families. Findings underscore the need for personalized, culturally sensitive genetic counseling and supportive policies that promote ethical and effective cascade testing. Further research should explore digital interventions and clinician-supported disclosure models.