Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Yu MHC

PROVIDER: S-EPMC7891783 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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

Yu Mullin Ho Chung MHC Chan Marcus Chun Yin MCY Chung Claudia Ching Yan CCY Li Andrew Wang Tat AWT Yip Chara Yin Wa CYW Mak Christopher Chun Yu CCY Chau Jeffrey Fong Ting JFT Lee Mianne M Fung Jasmine Lee Fong JLF Tsang Mandy Ho Yin MHY Chan Joshua Chun Ki JCK Wong Wilfred Hing Sang WHS Yang Jing J Chui William Chun Ming WCM Chung Patrick Ho Yu PHY Yang Wanling W Lee So Lun SL Chan Godfrey Chi Fung GCF Tam Paul Kwong Hang PKH Lau Yu Lung YL Tang Clara Sze Man CSM Yeung Kit San KS Chung Brian Hon Yin BHY

PLoS genetics 20210218 2

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 ...[more]

PMID: 33600428

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Project description:ImportanceImplementation of pharmacogenetic testing to guide drug prescribing has potential to improve drug response and prevent adverse events. Robust data exist for more than 30 gene-drug pairs linking genotype to drug response phenotypes; however, it is unclear which pharmacogenetic tests, if implemented, would provide the greatest utility for a given patient population.ObjectivesTo project the proportion of veterans in the US Veterans Health Administration (VHA) with actionable pharmacogenetic variants and evaluate how testing might be associated with prescribing decisions.Design, setting, and participantsThis cross-sectional study included veterans who used national VHA pharmacy services from October 1, 2011, to September 30, 2017. Data analyses began April 26, 2018, and were completed February 6, 2019.ExposuresReceipt of level A drugs based on VHA pharmacy dispensing records.Main outcomes and measuresProjected prevalence of actionable pharmacogenetic variants among VHA pharmacy users based on variant frequencies from the 1000 Genomes Project and veteran demographic characteristics; incident number of level A prescriptions, and proportion of new level A drug recipients projected to carry an actionable pharmacogenetic variant.ResultsDuring the study, 7 769 359 veterans (mean [SD] age, 58.1 [17.8] years; 7 021 504 [90.4%] men) used VHA pharmacy services. It was projected that 99% of VHA pharmacy users would carry at least 1 actionable pharmacogenetic variant. Among VHA pharmacy users, 4 259 153 (54.8%) received at least 1 level A drug with 1 188 124 (15.3%) receiving 2 drugs, and 912 189 (11.7%) receiving 3 or more drugs. The most common incident prescriptions during the study were tramadol (923 671 new recipients), simvastatin (533 928 new recipients), citalopram (266 952 new recipients), and warfarin (205 177 new recipients). Gene-drug interactions projected to have substantial clinical impacts in the VHA population include the interaction of SLCO1B1 with simvastatin (1 988 956 veterans [25.6%]), CYP2D6 with tramadol (318 544 veterans [4.1%]), and CYP2C9 or VKORC1 with warfarin (7 163 349 veterans [92.2%]).Conclusions and relevanceClinically important pharmacogenetic variants are highly prevalent in the VHA population. Almost all veterans would carry an actionable variant, and more than half of the population had been exposed to a drug affected by these variants. These results suggest that pharmacogenetic testing has the potential to affect pharmacotherapy decisions for commonly prescribed outpatient medications for many veterans.

Project description:BACKGROUND:Fertility preservation for both medical and non-medical reasons are gaining increasing attention world-wide. This study aimed to evaluate the awareness, knowledge and acceptance on fertility preservation in Hong Kong Chinese. METHODS:This was a cross-sectional study carried out between June 2016 to March 2017. A self-administered questionnaire was distributed by convenience sampling. RESULTS:Forty two percent of subjects returned the questionnaire (n?=?296/697). Among them, only 54.3% were aware of any means of fertility preservation. Tertiary educated individuals are more aware than less educated individuals (73.6% versus 46.6%, p?<?0.001). The most commonly known method is oocyte cryopreservation (94.3%). Most of the respondents (80%) were interested to know about fertility preservation, 84.1% considered fertility preservation counselling necessary and 83.3% would consider undergoing fertility preservation if a treatment has a high chance of causing infertility despite the possibility of delay in cancer treatment. Up to 93.9% agreed to set up a dedicated referral centre with government funding and 73.4% agreed that fertility preservation for medical indication should be provided as a government funded service. In terms of fertility preservation for non-medical reason, 65.5 and 70.4% agreed that fertility preservation should be offered to single men and women without partner respectively, while only 53.3 and 50% agreed that fertility preservation is acceptable for delay in childbearing for career development in female and male respectively. CONCLUSION:There was a low awareness but positive attitude towards fertility preservation among Hong Kong Chinese. Acceptance towards medically indicated fertility preservation is high while a considerable number also accepts it for non-medical reasons. Educational campaigns are required to arouse awareness of fertility preservation to prevent individuals being deprived of the option due to lack of knowledge. Dedicated referral centre with established efficient patient referral pathways and financial support should be provided to improve the provision and uptake of fertility preservation service to enhance the reproductive potential and life options of women.

Dataset Information

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

Publications

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

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