Human genetic studies taking place across the world have minimum representation from Asian population groups. Most of these studies have been performed on people with European origin. Now, discovery and genetic association found from the European population can not necessarily be translated to non-European population group. This limits the researchers in understanding human diseases accurately for the non-European population, including those from Asia (which represent 60 per cent of the global population).
Recently, there has been slight improvement in non-European studies but still, it remains highly underrepresented. The goal of the GenomeAsia consortium is to sequence high-quality whole-genome data from Asia and make it available free for the scientific community and industry.
As part of the pilot project, GenomeAsia 100K consortium has published a research study covering 1,739 individuals of 219 population groups from 64 countries across Asia. The samples included 598 from India, 156 from Malaysia, 152 from South Korea, 113 from Pakistan, 100 from Mongolia, 70 from China, 70 from Papua New Guinea, 68 from Indonesia, 52 from the Philippines, 35 from Japan and 32 from Russia.
This study provides a useful genomic resource which will facilitate genetic studies in Asia including India. More than 20 per cent of genetic variants identified in this study are not reported in previous studies. For eg, HBB variant (chromosome 11: 5248155 c.92+5G>C) associated with ß-thalassaemia is found in south Asians and is at a lower frequency in southeast Asians. This study will also improve the identification of pathogenic variant for the rare diseases more accurately. The complex history of Asian populations and population structure has also been reported in this study. The population group from India, Malaysia and Indonesia consists of multiple ancestral populations as well as multiple admixed groups.
In several clinics globally, the recommendations for dosing of certain drugs are guided by apparent or self-reported population identity. In this study, the authors assessed the allele frequencies of key pharmacogenomic variants in the GenomeAsia dataset to identify inter-population differences that have potential implications on drug testing and treatment. Interestingly, the study has identified drugs such as carbamezepine, clopidigrel, peginterferon and warfarin as the drugs with the largest impact on genetic variation related to ethnicity, and has predicted adverse drug responses in several population sub-groups. For example, a genetic variant in HLA-B gene is associated with risk for development of Steven Johnson syndrome in patients treated with carbamazepine was found to occur at an increased frequency in Austronesian group people (~400 million) from Indonesia, Malaysia and the Philippines.
Also, the study assessed the allele frequencies of key pharmacogenomic variants to identify inter-population differences that have potential implications on drug testing and treatment, and these novel findings can help the Pharma industry to reduce time and investment in their research while assessing the efficacy and toxicity of new drug development. In addition, the GenomeAsia has deeply catalogued population-specific genetic variants in “very important pharmacogenes” (VIP genes) such as VKORC1, IFNL3, CYP2B6, CYP2D6 and CYP2C19, affecting dosage, efficacy and toxicity of associated FDA approved drugs.