Lahore: Generations of inbreeding through cousin marriages have alarmingly increased the burden of rare genetic disorders in Pakistan, where hundreds of thousands of children are born each year with rare cancers, neurological disorders, congenital heart defects, thalassemia, metabolic diseases and other inherited conditions — but most die undiagnosed and untreated, national and international speakers warned at the 1st Rare and Genetic Diseases Summit 2025 in Lahore on Saturday.
Calling for mandatory genetic testing before cousin marriages, especially between first cousins, experts said Pakistan must urgently initiate pre-marital counseling and nationwide screening to understand the scale of the crisis. They reminded that over 60 percent of all marriages in Pakistan are between cousins, with rates as high as 80 percent in Khyber Pakhtunkhwa and 70 percent in Azad Jammu & Kashmir, fueling what they described as a “silent epidemic” of preventable childhood deaths.
Doctors from across specialties — cardiology, oncology, neurology, hematology, endocrinology, ophthalmology and dentistry — said children with rare disorders were now a routine sight in their OPDs. Yet most were diagnosed late, when diseases were no longer curable, due to lack of genetic facilities.
They stressed that the intergenerational cycle of suffering would continue unless Pakistan invests in genetic counseling, builds diagnostic capacity, and integrates genomic testing into mainstream healthcare.
The scientific sessions, organized by the Society of Novel and Rare Diseases (SNARE), were attended by experts from the United States, United Kingdom, France and Germany, alongside senior researchers from major Pakistani institutions.
Delivering the presidential message, Prof. Javed Akram underlined that rare diseases pose immense challenges due to delayed diagnoses, limited research, and lack of targeted therapies. “Every step towards understanding these conditions not only helps a few, but also pushes the boundaries of science and transforms countless lives worldwide,” he said.
Prof. Masood Sadiq, Vice Chancellor of the University of Child Health, Lahore, and a leading paediatric cardiologist, warned that the genetic basis of cardiomyopathies was being overlooked in Pakistan. He flagged “red-flag” cases such as sudden cardiac death in young people, conduction abnormalities and unexplained heart failure, saying these often point to inherited disorders. He classified cardiomyopathies into hypertrophic, dilated, restrictive, arrhythmogenic, and left ventricular non-compaction, sharing local research on cases of Pompe’s disease and carnitine deficiencies.
“Genetic insight turns a single diagnosis into a chance to protect a whole family,” he remarked, urging registries, cascade screening and collaborative genetic programs.
From Karachi, Prof. Jamal Raza, Executive Director of the Sindh Institute of Child Health and Neonatology (SICHN), called for reducing the exorbitant cost of treatment for rare diseases, which can run into hundreds of thousands of dollars. He announced that Karachi will host the next SNARE summit in October 2026, pledging to make it a showcase of research, collaboration, and advocacy.
Prof. Huma Arshad Cheema, chair of the scientific committee, reiterated that cousin marriages are perpetuating genetic disorders across Pakistan, with thousands of families losing multiple children without ever knowing the cause. “This is a silent epidemic. Awareness, early neonatal screening and genetic counseling are the only way forward,” she stressed.
Other speakers highlighted specific genetic links: Prof. Jaida Manzoor spoke on monogenic obesity in Pakistani children; Prof. Shazia Maqbool explained how South Asians are genetically predisposed to obesity under favorable environmental conditions; and Prof. Aftab Mohsin discussed rare and unexpected hepatological conditions.
International experts cited successful models from countries like Cyprus and Iran, where mandatory premarital testing for thalassemia carriers drastically reduced disease incidence. They urged Pakistan to establish a national genomic database, incorporate genetic services in all major hospitals, and train doctors in genetic counseling.
The experts concluded that rare disease advocacy in Pakistan is not about saving a few children, but about protecting generations from avoidable tragedy. As Prof. Akram put it: “If Pakistan begins with genetic testing before cousin marriages, it can dramatically reduce disease burden, protect families, and change the lives of millions struggling in silence.”
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