Pakistan Genome Resource (PGR), the country’s largest genomic database developed by sequencing the genomes and exomes of more than 173,000 people, has been established to provide a comprehensive genetic reference for the Pakistani population and improve healthcare through precision medicine and the discovery of new gene-disease associations.
Pakistan Genome Resource established to advance precision medicine, improve healthcare outcomes
PESHAWAR, Jul 06 (APP):Pakistan Genome Resource (PGR), the country’s largest genomic database developed by sequencing the genomes and exomes of more than 173,000 people, has been established to provide a comprehensive genetic reference for the Pakistani population and improve healthcare through precision medicine and the discovery of new gene-disease associations.
The initiative, described in a study published in prestigious journal `Nature’, involved genomic analysis of 173,303 participants recruited from 23 cities, including Karachi, Lahore, Peshawar, Quetta, Multan, Rawalpindi, Islamabad, Mardan, Swat, Hyderabad, Larkana and Faisalabad.
The study significantly expands the catalogue of human genetic variation, providing a comprehensive genomic reference for Pakistan while highlighting the importance of including underrepresented populations in global genetic research.
According to the researchers, the project aims to better understand naturally occurring genetic variations among Pakistanis and how these influence susceptibility to diseases such as diabetes, heart disease, kidney disorders, blood diseases and inherited conditions, while also supporting the development of safer and more effective medicines.
Explaining the research findings, Prof. Dr. Yasar Mehmood Yousafzai of Khyber Medical University (KMU) said Pakistani populations have long been underrepresented in international genomic studies, and the Pakistan Genome Resource fills a major scientific gap by establishing a reliable genetic reference for the country.
He said the study demonstrates the rich genetic diversity of Pakistanis and provides scientists with valuable information for understanding disease biology, developing precision medicine and improving public health.
The researchers identified more than 6.6 million coding genetic variants across 19,021 genes, with nearly 47 percent of these variants not previously reported in non-South Asian populations included in the Genome Aggregation Database (gnomAD).
The study also identified naturally occurring loss-of-function variants in 6,476 protein-coding genes. Researchers say such discoveries are particularly valuable for drug development because genes that can be naturally switched off without causing disease may represent safe targets for future medicines.
The report emphasizes that these genetic variations are naturally occurring and do not indicate that Pakistanis possess “missing genes.”
Similar variations exist in all human populations, although they are especially informative in Pakistan due to its large, genetically diverse population and relatively high rates of consanguineous marriages in some communities.
According to the researchers, the genomic reference will help doctors distinguish between harmless and disease-causing genetic variants, leading to more accurate diagnosis of inherited disorders and improved patient care.
The findings are expected to strengthen research on thalassaemia, inherited childhood disorders, rare diseases, cancer, cardiovascular diseases, diabetes, kidney diseases and individual responses to medicines. They may also support future genetic counselling, carrier screening, premarital counselling and family-based risk assessment.
Prof. Yousafzai stressed that the responsible use of genomic information requires informed consent, robust privacy safeguards, ethical oversight, secure data management and protection against misuse of genetic information.
He added that all research findings must undergo clinical validation before being incorporated into routine medical practice.
The researchers concluded that Pakistan’s rich genetic diversity represents a valuable scientific resource that, if studied responsibly and ethically, could significantly improve disease diagnosis, prevention, genetic counselling, treatment strategies and biomedical research, ultimately contributing to better healthcare outcomes across the country.
