Carrier screening and genetic counseling in high-consanguinity populations: a narrative review

High-consanguinity rates in many Middle Eastern and North African populations have substantially increased the burden of autosomal recessive disorders, making carrier screening a critical public health priority. This narrative review synthesizes evidence published between 2020 and 2025 on carrier screening and genetic counseling in these populations, focusing on detection rates, counseling models, cultural acceptability, and key implementation barriers, including uptake, stigma, and equity. Carrier detection rates of 62-90% have been reported in population-level screening programs. The review findings suggest that program effectiveness depends critically on culturally responsive counseling, community engagement, and supportive legal and religious frameworks, rather than on technology alone. Significant implementation challenges persist, including limited population-specific genomic reference databases leading to high rates of variants of uncertain significance, the absence of standardized counseling pathways, substantial proportions of identified at-risk couples proceeding with marriage (50-67%), and insufficient long-term program evaluations. These findings highlight the need for context-specific implementation research, workforce development in genetic counseling, and policy frameworks that better integrate carrier and premarital screening with accessible reproductive options and culturally adapted counseling pathways in high-consanguinity populations.