A Child's Death Highlights Pakistan's Genetic Testing Gap

A tragic case in Pakistan has brought to light the severe limitations in the country's healthcare system concerning rare genetic disorders. Two-and-a-half-year-old Abiha died in June 2026 before a diagnosis could be confirmed for her suspected rare genetic condition. Her illness, marked by fever, vomiting, and organ enlargement, baffled doctors who had already lost two of Zafar's daughters to similar unexplained illnesses.

Specialists at Lahore's Jinnah Hospital suspected a genetic disorder, but the necessary advanced tests required samples to be sent abroad, a costly and time-consuming process. Pakistan currently lacks comprehensive estimates of genetic disorders, with limited testing infrastructure and no national registry. This leaves many families in a distressing search for answers.

Experts emphasize the urgent need for increased investment in public awareness, premarital screening, newborn screening programs, and genetic counseling. The federal health ministry is developing a national strategy for rare diseases, including a registry at the National Institute of Health, to better map and address these conditions.

Meanwhile, legislative efforts are underway to mandate carrier screening, such as the thalassaemia screening bill passed by the National Assembly in March 2026. These measures aim to equip prospective parents with knowledge about potential risks and facilitate early identification of affected infants, a stark contrast to the unresolved mystery of Abiha's condition.