LAUSR

Summary This study aimed to investigate the frequency of consanguineous marriages and level of understanding of consanguinity-associated genetic risks in the Pashtun population, Pakistan. Information was gathered using a detailed questionnaire completed by 1500 individuals of both sexes over the 11-month period between April 2015 and February 2016. The mean inbreeding coefficient of the respondents was calculated and a five-point response scale was used to assess their understanding of consanguinity risks. The frequency of consanguineous marriages in the Pashtun population was found to be 58.3%, with a mean inbreeding coefficient of 0.0259. Marriage between second cousins was found to be the dominant marriage type. Level of education was found to be negatively related to the incidence of consanguineous marriage (p<0.001), and higher consanguinity was reported among the rural than the urban population (p<0.001). Participants in the ≥25-year age group, those with a higher level of education and those residing in urban areas exhibited a significantly higher understanding of consanguinity risks. The overall prevalence of consanguinity in the Pashtun population is high, demonstrating the need for awareness of its risks in the target population. The timely dissemination of information on potential health-related risks and the introduction of genetic counselling in the region would benefit both the individuals concerned and the community in general.