Invisible burden: addressing rare and genetic disorders in Pakistan’s healthcare landscape

Abstract

Rare and genetic disorders remain largely invisible in Pakistan’s healthcare landscape, yet they place a devastating burden on patients, families, and health systems. Their neglect in national health agendas contrasts sharply with global commitments under the UN 2030 Agenda, Universal Health Coverage (UHC), and the 2021 UN Resolution, which recognize equity for persons living with rare diseases as a priority.¹ However, the absence of a universally accepted definition, thresholds and criteria vary widely across countries, continues to hinder coherent policy and regulation.² Establishing a consistent definition is essential to guide strategies, prioritize research and drug development, and reduce inconsistencies shaped by demographic and socio-cultural contexts.³ Rare diseases, though individually uncommon, collectively affect an estimated 3.5–5.9% of the global population, about 263-446 million people at any time. With nearly 72% of these conditions being genetic and about 69.9% often manifested in childhood, their burden is profound yet largely invisible within health systems.⁴

While global figures highlight the magnitude of rare and genetic disorders, the challenge is even greater in developing countries, where fragile health systems, scarce resources, and competing priorities limit progress.^5,6 In such contexts, the lack of clear definitions, inadequate diagnostic infrastructure, and weak policy attention widen inequities. Pakistan exemplifies these challenges, highlighting the urgent need to translate global commitments into locally responsive strategies.

 The Undiagnosed Diseases Network International (UDNI), now spanning 41 countries including Pakistan, aims to strengthen diagnosis of undiagnosed rare diseases and develop standardized care pathways. Despite this inclusion, Pakistan faces profound barriers in rare disease diagnosis and care. Public and professional awareness remains low, access to and financing for genetic testing is limited, and multidisciplinary services are poorly funded and fragmented. The country also suffers from a shortage of trained specialists, weak institutional coordination, and minimal culturally appropriate care models.⁷ Broader systemic issues compound these gaps, including the absence of regulatory frameworks, limited expertise in medical genetics, scarce funding for genomic research, and a lack of genomic literacy across both providers and patients. Social determinants, such as high consanguinity, rural–urban disparities, gender inequities, and cultural or religious constraints, further impede the prioritization of clinical genetic services. Together, these barriers illustrate why Pakistan, despite global initiatives, struggles to build a sustainable framework for rare disease diagnosis and care.⁸

The multifaceted challenges surrounding rare disease care in Pakistan highlight the urgent need for a comprehensive, system-wide response, grounded in global health commitments yet responsive to national realities. A significant milestone has been the establishment of the country’s first Rare Registry for inherited metabolic disorders by the Biochemical Genetics Laboratory at Aga Khan University, marking an important step in quantifying and recognizing the burden of rare diseases.⁹ To build on this progress, a coordinated registry and surveillance system across all provinces is essential to capture the true prevalence and spectrum of rare and inherited conditions.

Simultaneously, strengthening diagnostic infrastructure through the expansion of genetic laboratories and ensuring equitable access to early detection services must be prioritized. Addressing the critical shortage of trained professionals requires targeted capacity-building initiatives for clinicians, pediatricians, and genetic counselors. Public–private partnerships can also play a transformative role by reducing financial barriers, making advanced diagnostics and long-term care more accessible in low- and middle-income settings.¹⁰

Professional societies such as the Pakistan Society of Medical Genetics and Genomics (PSMG)¹¹ and the recently established Pakistan Society for Novel and Rare Diseases (SNARE)¹² are well positioned to advance the field of medical genetics and rare disease care. By fostering interdisciplinary collaboration, raising awareness among both professionals and the public, and supporting education and telehealth initiatives, these organizations provide vital platforms for advocacy and innovation. Their efforts are equally crucial for promoting the culturally sensitive integration of medical genetics into Pakistan’s healthcare framework.

Pakistan stands at a pivotal juncture in addressing rare and genetic disorders. The path forward requires a coordinated national strategy that integrates registries, diagnostic infrastructure, workforce development, and sustainable financing into a cohesive framework. Aligning these efforts with global commitments under the UN 2030 Agenda and UHC will not only reduce inequities for patients and families but also strengthen the resilience of the entire health system. By leveraging professional societies, fostering public–private partnerships, and promoting culturally sensitive care, Pakistan can bring the “invisible burden” of rare diseases into the national spotlight. This approach can bridge science, policy, and compassion to create a more equitable and hopeful future for those affected.