Consanguineous marriage is a longstanding social practice in many parts of India and refers to marriage between individuals who share a common ancestor. While culturally accepted in several communities, such unions increase the likelihood of both partners carrying identical recessive gene mutations, thereby increasing the risk of genetic disorders in their offspring. India already carries a significant burden of hereditary diseases, including thalassemia, sickle cell disease, muscular dystrophies, metabolic disorders, congenital anomalies, and various rare genetic conditions. Although such marriages may strengthen family and community ties, but they are associated with an increased risk of inherited genetic disorders and congenital anomalies in offspring. Common conditions linked to consanguinity include thalassemia, sickle cell disease, congenital heart defects, hearing impairment, intellectual disabilities, and other autosomal recessive disorders. Genetic counselling and genetic testing play a vital role in identifying hereditary risks, providing reproductive guidance, and supporting informed healthcare decisions. However, awareness and utilization of these services remain limited among many Indian couples, particularly in rural settings. This study aims to assess the awareness, knowledge, and utilization of genetic counselling services among consanguineous couples in rural and urban India. The findings may help identify barriers to service uptake and support the development of targeted educational and public health interventions to reduce the burden of inherited genetic disorders and improve maternal and child health outcomes.

Genetic counselling is an essential healthcare service that helps individuals and families understand genetic risks, inheritance patterns, available testing options, and reproductive choices. Genetic testing methods such as carrier screening, prenatal diagnosis, and newborn screening can facilitate early detection and prevention of inherited disorders. Despite advances in genomic medicine, awareness of genetic counselling services remains inadequate, and their utilization is often influenced by factors such as education, socioeconomic status, cultural beliefs, accessibility of healthcare facilities, and availability of trained professionals.

In India, disparities between rural and urban populations may further affect knowledge and access to genetic services. Assessing awareness and utilization of genetic counselling among consanguineous couples is therefore important for identifying existing gaps, understanding community perceptions, and developing effective strategies to promote informed reproductive decision-making. Enhanced awareness and access to genetic counselling services can contribute significantly to reducing the incidence of preventable genetic disorders and improving family health outcomes.