Pakistan is sitting on a ticking time bomb of rare genetic disorders, and we can no longer afford to ignore it. Between 7 to 13.5 million of our children are estimated to be living with these conditions, making them one of the leading causes of infant deaths in the country. Behind these grim numbers lies a practice deeply ingrained in our culture: cousin marriages.
More than 60 percent of marriages in Pakistan are between cousins. In some regions, the figure soars to 70 and 80 percent. Generations of inbreeding have fuelled an alarming rise in inherited diseases — from congenital heart defects and rare cancers to neurological disorders, thalassemia, and metabolic syndromes. These are not isolated cases. They are widespread, routine, and tragically, often invisible until it is too late.
The experts gathered at the 1st Rare and Genetic Diseases Summit 2025 did not mince words. Prof. Javed Akram called out the medical community itself, accusing 99 percent of doctors of ignoring rare diseases and merely treating symptoms. He is right: the absence of diagnostic services, registries, and genetic counseling has reduced countless families to repeated tragedy, losing child after child without ever knowing the cause. This is not just a health crisis. It is a national failure.
It is time Pakistan followed the lead of countries like Cyprus and Iran, where mandatory premarital genetic testing has slashed the incidence of thalassemia. Such policies are not about limiting choice — they are about saving lives. Making genetic testing compulsory before cousin marriages would not only prevent needless suffering but also ease the colossal burden on our struggling health system.
But testing alone will not be enough. We need investment in neonatal screening, genomic databases, training of doctors, and availability of affordable therapies. Orphan drugs, where available, must be made accessible. Families must be counseled, communities engaged, and the silence around rare diseases broken.
SNARE has shown commendable leadership in bringing together scientists, clinicians, and policymakers on one platform. But their warnings should now become the foundation for urgent policy. If we continue down this path of denial, Pakistan will remain the epicenter of avoidable genetic tragedy, generation after generation.
The choice is clear: either we confront this cultural and medical crisis head-on with science, policy, and compassion — or we continue to bury our children with the excuse of tradition.