Maternal awareness and misconceptions about genetic disorders: a cross-sectional study among mothers of affected children at PIMS Hospital, Islamabad

Genetic disorders impose a considerable health burden in low- and middle-income countries, where high consanguinity rates, limited access to services, and low health literacy intensify their impact. This study assessed awareness, knowledge, and misconceptions about genetic disorders among mothers of affected children at the Pakistan Institute of Medical Sciences (PIMS), Islamabad, and examined associated sociodemographic factors. A cross-sectional survey was conducted from April to May 2025 among 100 mothers of children with confirmed genetic disorders via a structured, interviewer-administered questionnaire. The mean participant age was 31.13 ± 6.06 years; 36% were illiterate, and 52% resided in urban areas. While 78% had heard of genetic disorders, only 18% knew of local genetic testing or counseling services, and 24% had received information from healthcare providers. Good awareness was seen in 16% and poor awareness in 78% of the participants; good knowledge was found in 25%, while 66% had poor knowledge. Misconceptions persisted, with 21% attributing genetic disorders to bad luck or punishment and 16% believing they were contagious; 38% demonstrated good understanding, and 46% demonstrated poor understanding. Education and socioeconomic class were significantly associated with awareness (p = 0.011, p = 0.001), knowledge (p < 0.001, p = 0.002), and beliefs (p < 0.001, p < 0.001), whereas age and residence were not significantly associated. The findings highlight a gap between general awareness and functional understanding, emphasizing the need for targeted, literacy-sensitive interventions to improve maternal genetic health literacy and support informed healthcare decision-making.