With over 65pc cousin marriages, genetic disorders on the rise in Pakistan: experts

With over 65 percent of marriages in Pakistan occurring between cousins, and rates rising to 85 percent in some communities, experts have highlighted a sharp rise in genetic disorders across the country.

Speaking at the Swiss-Pakistan Workshop titled “Genomic Disorder and Recessive Disorder” at the Dow University of Health Sciences (DUHS), they warned that Pakistan ranks among the nations with the highest rate of consanguineous marriages globally.

The workshop, held at Dr. Abdul Qadeer Khan Auditorium of Dow International Medical College on Tuesday, brought together experts from Pakistan and Switzerland to discuss the impact of genetic mutations caused by cousin marriages.

Vice Chancellor DUHS Prof. Muhammad Saeed Quraishy noted that cultural, social, and economic factors drive this trend, which, while having certain biological benefits, significantly increases the risk of recessive and dominant genetic disorders in children.

Prof. Quraishy revealed that genetic diseases such as thalassemia, microcephaly, and other hereditary conditions are prevalent in families with repeated consanguinity. “The alarming rate of cousin marriages in Pakistan necessitates urgent genetic research and healthcare interventions,” he said.

Prof. Atta-ur-Rahman, the workshop’s guest of honour, emphasized the importance of scientific development to combat genetic diseases. He observed that despite economic challenges, Pakistan continues to advance in biological and genetic research.

Dr. Stylianos Antonarakis from the University of Geneva shared that approximately 2,980 genes linked to recessive diseases have been identified, while an estimated 8,000 to 9,000 remain unknown. He explained that genomic variability can drive evolution but also imposes the burden of genetic disorders, especially in populations with high rates of cousin marriages.

Dr. Ambreen Fatima of Aga Khan University highlighted Pakistan’s high prevalence of genetic disorders, including a 6% carrier frequency of thalassemia and one of the world’s highest rates of microcephaly. She also criticized the limited focus on genetic disorders in the healthcare system, which is overwhelmed by infectious diseases and malnutrition.