Pakistan has taken a major step toward developing its first National Genomic Policy, with the Ministry of National Health Services and the Health Services Academy hosting a high-level consultation involving leading local and international experts.
Federal Health Minister Emphasizes Prevention
Federal Health Minister Syed Mustafa Kamal emphasized the need to shift from a treatment-based healthcare model to one focused on prevention through genomics, early screening, and precision medicine. Experts highlighted Pakistan’s growing burden of inherited diseases, noting that 60–70% of marriages are consanguineous, significantly increasing the risk of genetic disorders.
Burden of Genetic Disorders
According to Health Services Academy officials, the country has over 10 million thalassemia carriers, with 7,000–10,000 new cases reported annually. Genomic and inherited diseases are estimated to cost Pakistan PKR 200–300 billion each year.
Draft National Genomic Policy Reviewed
During the meeting, experts reviewed a draft National Genomic Policy that proposes establishing a national public health genomics program, genomic surveillance systems, workforce training, local diagnostic facilities, and preventive screening initiatives. Officials said preventive genomic screening could deliver substantial health and economic benefits, including reducing thalassemia-related births by up to 90%.
Participation from Leading Institutions
Participants from leading institutions, including Aga Khan University, Quaid-i-Azam University, National University of Sciences and Technology, and Massachusetts Institute of Technology, described the initiative as a landmark step for Pakistan’s healthcare future.
Recommendations and Next Steps
The consultation concluded with recommendations to advance genomic research, governance, screening programs, and equitable access to genomic services nationwide, aiming to reduce disease burden, lower healthcare costs, and strengthen national health security.



