Kholud R Alrubaie, Raghad A Alzaylaee, Latifah A Alayyaf, Farjah H Algahtani, Shaker A Alomary, Abdullah M Assiri, Mariam M AlEissa
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引用次数: 0
Abstract
Pharmacogenomics has the potential to improve the safety and efficacy of medicines in Saudi Arabia, and has a strong basis for implementation through population-specific genomic evidence, growing laboratory capacity and national digital health investment. We undertook a structured policy analysis and evidence synthesis of Saudi, regional, and international evidence; compared selected implementation capabilities across established models; and assessed national readiness descriptively across key health system domains. Using published evidence and structured expert judgement, we propose gene-drug priority tiers according to their clinical impact, population relevance and feasibility. Saudi Arabia's strengths are in genomic evidence and digital health infrastructure, but large gaps exist in governance, laboratory standardization, electronic health record interoperability, clinical decision support, workforce readiness, reimbursement, and outcome evaluation. Five pathways are proposed for initial implementation: CYP2C19-clopidogrel, DPYD-fluoropyrimidines, TPMT/NUDT15-thiopurines, HLA-guided anticonvulsant prescribing and HLA-B*57:01-abacavir. We propose a framework that could be supported by the Population Health Observatory and a six-phase roadmap, moving from governance and technical design to multicenter pilots, national scale-up and continuous evaluation.
期刊介绍:
Genes (ISSN 2073-4425) is an international, peer-reviewed open access journal which provides an advanced forum for studies related to genes, genetics and genomics. It publishes reviews, research articles, communications and technical notes. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.