Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

Autoři: Mullin Ho Chung Yu aff001;  Marcus Chun Yin Chan aff001;  Claudia Ching Yan Chung aff001;  Andrew Wang Tat Li aff002;  Chara Yin Wa Yip aff002;  Christopher Chun Yu Mak aff001;  Jeffrey Fong Ting Chau aff001;  Mianne Lee aff001;  Jasmine Lee Fong Fung aff001;  Mandy Ho Yin Tsang aff001;  Joshua Chun Ki Chan aff001;  Wilfred Hing Sang Wong aff001;  Jing Yang aff001;  William Chun Ming Chui aff002;  Patrick Ho Yu Chung aff003;  Wanling Yang aff001;  So Lun Lee aff004;  Godfrey Chi Fung Chan aff001;  Paul Kwong Hang Tam aff003;  Yu Lung Lau aff001;  Clara Sze Man Tang aff003;  Kit San Yeung aff001;  Brian Hon Yin Chung aff001
Působiště autorů: Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China aff001;  Department of Pharmacy, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China aff002;  Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China aff003;  Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children's Hospital, Pokfulam, Hong Kong SAR, China aff004;  Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China aff005;  Department of Paediatrics and Adolescent Medicine, The Hong Kong Children’s Hospital, Kowloon Bay, Hong Kong SAR, China aff006;  Dr Li Dak-Sum Research Centre, The University of Hong Kong–Karolinska Institutet Collaboration in Regenerative Medicine, Pokfulam, Hong Kong SAR, China aff007
Vyšlo v časopise: Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population. PLoS Genet 17(2): e1009323. doi:10.1371/journal.pgen.1009323
Kategorie: Research Article


Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing point-of-care patient genotype information. Nonetheless, its implementation in the Chinese population is limited by the lack of population-wide data. In this study, secondary analysis of exome sequencing data was conducted to study pharmacogenomics in 1116 Hong Kong Chinese. We aimed to identify the spectrum of actionable pharmacogenetic variants and rare, predicted deleterious variants that are potentially actionable in Hong Kong Chinese, and to estimate the proportion of dispensed drugs that may potentially benefit from genotype-guided prescription. The projected preemptive pharmacogenetic testing prescription impact was evaluated based on the patient prescription data of the public healthcare system in 2019, serving 7.5 million people. Twenty-nine actionable pharmacogenetic variants/ alleles were identified in our cohort. Nearly all (99.6%) subjects carried at least one actionable pharmacogenetic variant, whereas 93.5% of subjects harbored at least one rare deleterious pharmacogenetic variant. Based on the prescription data in 2019, 13.4% of the Hong Kong population was prescribed with drugs with pharmacogenetic clinical practice guideline recommendations. The total expenditure on actionable drugs was 33,520,000 USD, and it was estimated that 8,219,000 USD (24.5%) worth of drugs were prescribed to patients with an implicated actionable phenotype. Secondary use of exome sequencing data for pharmacogenetic analysis is feasible, and preemptive pharmacogenetic testing has the potential to support prescription decisions in the Hong Kong Chinese population.

Klíčová slova:

Alleles – Bioinformatics – Drug metabolism – Glucose-6-phosphate dehydrogenase deficiency – Hong Kong – Chinese people – Pharmacogenetics – Variant genotypes


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