Genetic services in Pakistan: a review highlighting limitations and opportunities for improvement

Genetic services, including genetic testing and genetic counseling, are essential components of modern healthcare and play a critical role in diagnosis, management, and prevention of inherited disorders. In Pakistan, the burden of genetic disorders is substantially increased by high rates of consanguinity, limited public awareness, inadequate healthcare infrastructure, and the absence of formal genetic counseling services. This review evaluates the current status of genetic services in Pakistan, focusing on genetic testing facilities, genetic counseling, healthcare infrastructure, workforce limitations, ethical considerations, and recent initiatives aimed at improving genomic healthcare delivery. A narrative review of the literature was conducted using national and international studies related to medical genetics and genetic counseling. The findings indicate that genetic services in Pakistan remain limited, costly, and largely inaccessible within the public healthcare sector. Advanced diagnostic technologies, including whole exome/genome sequencing (WES/WGS), and non-invasive prenatal testing (NIPT), are mostly outsourced internationally, restricting access for much of the population. Furthermore, Pakistan lacks formal postgraduate training programs and professional accreditation systems for genetic counselors (GCs). Recent efforts by the Pakistani Society of Medical Genetics and Genomics (PSMG), including telehealth genetic clinics, educational programs, and international collaborations, represent important steps toward improving genetic services in resource-limited settings. This review emphasizes that establishing a national genomics policy, expanding local diagnostic infrastructure, and developing accredited genetic counseling training programs are urgently needed for the sustainable integration of genomic medicine into Pakistan's healthcare system.