2019 has seen a continuous and substantial growth of Medical Genomics and Bioinformatics in IHS. Increasedcontent related to precision medicine has been incorporated into almost every undergraduate programme. Inaddition, competitive and international collaborative research in these areas have produced findings whichmay be important for the future implementation of precision healthcare in the country. Some of the highlightsinclude: In-depth Insights of Bruneian Genomes: A total of 5.3 million short nucleotide variants (SNVs), of whichapproximately 130K are novel, have now been identified from Malay genomes in Brunei. Admixture analysiscomparing local Malay’s genomes with those from various population groups in Southeast Asia shows that,while genetically similar, contribution of genetic materials from the northern Philippines has clearly separatedBruneian Malays from the other Malay ethnic groups in the region. These subtle differences may form thebasis of refined population genetics necessary for stratified genomic medicine. Identification of Causative Genes for Genetic Diseases: Osteopetrosis is a rare genetic diseasecharacterised by abnormally low bone density and increased susceptibility to fracture. A collaboration withcolleagues from Iraq and Universiti Teknologi Brunei has enabled analysis of the whole exome data derivedfrom an affected Iraqi family using a novel and comprehensive bioinformatics approach. This has allowed (1)identification of a novel causative mutation in SNX10; (2) correction of a previous misdiagnosis; and (3)establishment of the multigenic nature of the disease. Publication of the work is in progress. Current Status and Perspectives of Pharmacogenomics (PGx) in Southeast Asia (SEA): PGx with itspotential to improve drug efficacy and safety for individuals is increasingly being recognised as one of themost promising examples of precision medicine. In Southeast Asia (SEA), the SEAPharm research network, ofwhich IHS is a member, has been tasked to promote and strengthen research in the field. In a recentlypublished ASEAN-wide study, a number of elements (e.g. pharmacovigilance database, PGx research,dedicated PGx laboratories, health economics research, structured PGx education, and supportive nationalhealth policy) essential for PGx implementation at the national level have been identified. However,development of these elements is found to be highly uneven among the member states in ASEAN. The ASEAN Pharmacogenetic Variants Catalogue: As part of an ongoing effort to map the PGx-relatedgenetic landscape in ASEAN, 351 reported genetic variants of 39 pharmacogenes and their associated drugtypes, responses and adverse reactions were systematically collated from various literature and databases.All variants were stringently audited to a high standard to ensure reliability of this catalogue. Interestingly,preliminary analysis shows that some of these PGx markers are not present within the known Bruneiangenomes. Improved Genomics and Bioinformatics Infrastructure: A Biomedical Genomics Core Laboratory is beingestablished to provide genomic resources, in particular Illumina next generation sequencing and services,ranging from project design to bioinformatics support, to both internal and external investigators. In addition,the computing infrastructure has also been boosted with a number of mid-level workstations and servers. Forging ahead, future research in Genomics and Bioinformatics at IHS is certainly looking promising.B E Y O N D | O C T . T O D E C . 2 0 1 9 | I S S U E 1 9 | R E S E A R C H I S S U EG R O W T H O F M E D I C A L G E N O M I C S A N DB I O I N F O R M A T I C S R E S E A R C H I N I H S 2D r . L u Z e n H u a t , S e n i o r A s s i s t a n t P r o f e s s o r
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