Pakistan is moving toward a major shift in its healthcare system with the development of its first-ever Pakistan genomics policy, aimed at integrating modern genetic science into disease prevention, diagnosis, and treatment across the country. Health experts say the initiative could reshape how inherited and chronic diseases are managed in Pakistan.
The Ministry of National Health Services, Regulations and Coordination has started consultations with leading national and international experts to finalize the draft policy. The move is being described as a milestone for a country where genetic disorders and inherited diseases contribute significantly to long-term healthcare challenges.
Officials say the policy is designed to shift Pakistan’s healthcare system from a treatment-focused model to a prevention-based approach using genomics, early screening, and precision medicine.
Rising burden of genetic diseases in Pakistan
Health experts highlighted during recent consultations that Pakistan faces a significant burden of genomic and inherited disorders, many of which remain underdiagnosed or untreated until advanced stages.
According to data shared in policy discussions, Pakistan has a high rate of consanguineous marriages, which increases the risk of recessive genetic conditions. Experts estimate that this contributes to a higher prevalence of diseases such as thalassemia, muscular disorders, and metabolic syndromes.
The country reportedly has millions of thalassemia carriers, with thousands of new cases emerging every year. Health professionals warn that without early screening and preventive policies, the economic and healthcare burden will continue to rise in the coming decades.
Officials also estimate that genetic and inherited diseases cost the country hundreds of billions of rupees annually, with projections suggesting the burden could reach trillions by mid-century if no intervention is made.
What the new genomics policy aims to achieve
The proposed Pakistan genomics policy focuses on building a structured national framework for genomic healthcare. It includes plans for:
- National genomic screening programs
- Expansion of genetic testing facilities
- Training of healthcare professionals in genomic medicine
- Development of local diagnostic infrastructure
- Integration of genomics into public health systems
- Establishment of genomic surveillance for disease tracking
Experts involved in drafting the policy say Pakistan can significantly reduce the burden of inherited diseases through early detection and preventive healthcare strategies.
Health authorities also plan to introduce awareness programs to educate families about genetic risks, especially in high-prevalence regions.
Experts call it a long-term healthcare investment
Medical scientists and public health experts participating in policy consultations described genomics as a high-return investment for Pakistan’s healthcare system. They argued that preventive genetic screening can reduce disease incidence and lower long-term treatment costs.
Experts believe early intervention programs, particularly for diseases like thalassemia, could reduce affected births significantly over time. They also emphasized that building local genomic research capacity will reduce dependency on foreign diagnostic services and improve access to affordable testing.
International experts participating in discussions also supported Pakistan’s move, saying many countries are now adopting precision medicine approaches to improve healthcare outcomes.
Strengthening healthcare through prevention
Federal health officials have stressed that Pakistan must evolve toward a preventive healthcare model. They said genomics can help identify disease risks early, allowing doctors to take preventive measures before conditions become severe.
The policy is also expected to improve national health security by enabling better tracking of disease patterns and genetic risks across populations. This data-driven approach could help policymakers design more targeted healthcare programs in the future.
Officials believe genomics can improve patient care and reduce pressure on hospitals and healthcare systems.
Next steps for policy implementation
The draft policy is under review following consultations with universities, research institutions, and medical experts from Pakistan and abroad. Institutions such as major universities and molecular biology research centers have contributed to the development process.
Once finalized, the policy will roll out in phases, starting with pilot screening programs and genomic labs in major cities.
Health authorities say the initiative’s success depends on funding, trained staff, and strong federal-provincial coordination.
