Carrier Screening Guidelines in India: The Way Forward

Carrier screening is likely to play an increasing and critical role in the prevention and management of genetic disorders.With the technique becoming available through various vendors and laboratories in India and with the considerable load of inherited conditions, the Society for Indian Academy of Medical Genetics (SIAMG) framed guidelines for Carrier Screening in December 2023.These have been endorsed by the Society of Fetal Medicine (SFM) and Federation of Obstetric and Gynecological Societies of India (FOGSI).These recommendations provide a roadmap for universal and expanded carrier screening (ECS), which is tailored to India's diverse genetic landscape.This work quotes segments of these guidelines and recommends a practical way forward for each scenario.