Neurogenetic Stigmatization and Bio-Sociological Burden in Parents of Children with Rare and Genetic Diseases: Development and Validation of the Genetic Guilt and Psychosocial Burden Scale (GGPBS)

Abstract Background Parents of children with rare and genetic diseases face a distinctive psychosocial burden that extends beyond general caregiving stress. The phenomenon of neurogenetic stigmatization, encompassing genetic carrier guilt, social stigmatization, and secondary traumatic stress, has been documented qualitatively but lacks a validated quantitative measurement tool. This study aimed to conceptualize neurogenetic stigmatization and bio-sociological burden, and to develop and psychometrically validate the Genetic Guilt and Psychosocial Burden Scale (GGPBS). Methods A three-phase sequential mixed-methods design was employed. Phase 1 generated an initial 68-item pool through systematic literature review, qualitative interviews with 15 parents, and expert consultation; content validity was assessed using the Content Validity Index. Phase 2 administered the preliminary scale to 247 parents of children with confirmed genetic diagnoses and conducted Exploratory Factor Analysis (EFA). Phase 3 administered the refined scale to an independent sample of 312 parents and performed Confirmatory Factor Analysis (CFA); test-retest reliability was assessed in a subsample of 68 parents over a four-week interval. Results EFA identified a five-factor structure accounting for 67.42% of total variance: Factor 1, Genetic Carrier Guilt and Self-Blame (α=0.94); Factor 2, Social Stigmatization and Social Isolation (α=0.92); Factor 3, Parental Secondary Trauma and Grief (α=0.91); Factor 4, Intrafamilial Role Changes and Relational Burden (α=0.89); and Factor 5, Genetic Counseling Experience and Information Needs (α=0.87). CFA confirmed adequate model fit (χ²/df=2.34, CFI=0.95, TLI=0.94, RMSEA=0.06). Total scale Cronbach's α=0.96; test-retest r=0.89 (p<0.001). Consanguinity significantly elevated burden across all dimensions, while receipt of genetic counseling was associated with lower burden. Conclusion The GGPBS demonstrates strong psychometric properties and addresses a critical measurement gap in psycho-genetics. Culturally sensitive genetic counseling targeting genetic guilt, social stigmatization, and secondary trauma is warranted for families affected by rare genetic conditions, particularly in contexts with elevated consanguinity rates.