The University of Hong Kong Gastric Cancer Exome Sequencing Project Data Access Committee
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PROVIDER: EGAC00001000032 | EGA |
REPOSITORIES: EGA
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Project description: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.
| S-EPMC7891783 | biostudies-literature
Project description:Hong Kong T2D-GENES Exome Sequencing Study
| PRJNA422326 | ENA
Project description:Hong Kong T2D-GENES Exome Sequencing Study
| PRJNA422325 | ENA
Project description:Data Access Committee EGAC00001000136
| EGAC00001000136 | EGA
Project description:BackgroundGenome sequencing (GS) has revolutionised the diagnostic odyssey of patients with rare genetic diseases (RDs) and accelerated large-scale genome projects globally. However, the impact of GS on patients with RDs is yet to be investigated among genome projects in Asia. The Hong Kong Genome Project (HKGP) was implemented to benefit patients and families with RDs in Hong Kong, and to increase the inclusiveness of Chinese genomic data. This study evaluated the impact of short read GS (srGS), complemented by long read GS (lrGS) in a subset, on individuals recruited in the pilot phase of the HKGP.MethodsGS was performed on a prospective cohort of patients with suspected genetic disease recruited by territory-wide referrals to the HKGP. All participants received srGS, while lrGS was applied to a subset to resolve technically challenging regions unclear from srGS and provide phasing information for potential compound heterozygous variants. A phenotypic-driven diagnostic workflow was implemented to filter and prioritise rare and likely disease-causing variants. The primary outcome was diagnostic yield. The impact on the diagnostic odyssey and clinical management was also assessed.FindingsA total of 1264 individuals from 520 families with a broad spectrum of RDs were recruited, with 94% of probands being Chinese. srGS was performed for all individuals and lrGS was performed in 21 individuals. The use of srGS achieved a molecular diagnosis in 24% (125/520) of probands, and an additional 4% (21/520) with the assistance from lrGS. Approximately one-third of the identified diagnostic variants being novel. Diagnostic yield was found to be significantly higher among adult probands compared to paediatric probands (32% vs 24%; p = 0.025). The diagnostic yield was significantly higher in probands without prior genetic testing (37%; n = 185) compared to those previously tested, including exome and genome sequencing (23%; n = 335) (p = 0.001). GS ended diagnostic odysseys with an average length of 15 years (0.5-59), and potentially impacted clinical management in 77% (113/146) of diagnosed probands.InterpretationThis population-based genome project shed light on the consideration of integrating srGS and lrGS in clinical workflows for RDs. The identification of unique and prevalent variants from Southeast Asia increased the inclusiveness of Chinese genomic data, contributing to greater representation and genomic diversity.FundingThe HKGP is a publicly funded genome sequencing initiative commissioned by the Health Bureau of the HKSAR Government.
| S-EPMC11814671 | biostudies-literature
Project description:BackgroundWaterpipe smoking has gained global popularity in recent years, especially among young people. However, there is a lack of empirical investigation into waterpipe smoking in East Asia. This study aimed to investigate the demographical and psycho-social characteristics and patterns of waterpipe smoking (WPS) among university students in Hong Kong.MethodsA cross-sectional survey was conducted via online questionnaires administered to 1288 Hong Kong university students (mean age: 22.4 [SD = 3.8]). Logistic regressions were used to compute adjusted odd ratios (aOR) for waterpipe ever-smoking in relation to respondents' characteristics. Moreover, multinomial logistic regression yielded adjusted RR (aRR) for four different smoking status (i.e., never, waterpipe-only, cigarette-only, and dual smoking) regarding the characteristics.Results23.8% of participants reported having ever smoked a waterpipe (vs. cigarette ever-smoking: 21.1%). Factors including being female (aOR:1.57; 95% CI: 1.22-2.02), older age (≥24 years: 4.17; 1.35-12.93), frequent alcohol consumption (>monthly: 26.02; 10.91-62.09), and higher sensation-seeking behaviours (high level: 2.98;1.46-6.08) were associated with waterpipe ever-smokers. The study also identified that demographical and psycho-social characteristics were variably associated with students' smoking status. Particularly, more frequent alcohol consumption was most significantly associated with waterpipe-only smoking (aRR:45.73; 95% CI:11.44-182.73) (vs. cigarette-only smoking: 3.01; 1.76-5.14).ConclusionsWPS is the most common form of tobacco smoking among university students in Hong Kong, and characteristics unique to the population were identified. There is no legislation of relevant policies on WPS despite its concerning significance in public health among young people, therefore immediate action to monitor and control WPS is needed in Hong Kong.
| S-EPMC7175508 | biostudies-literature
Project description:ImportanceCOVID-19 has required universities to rapidly develop vaccination policies for students and staff, yet little is known about the preferences of these individuals toward vaccination.ObjectiveTo quantify student and staff preferences for COVID-19 vaccination at a university in Hong Kong.Design, setting, and participantsA cross-sectional online survey study was conducted from July 20 to September 21, 2021, before the announcement of a campus-wide vaccine mandate. A survey of 42 451 eligible university students and staff used discrete-choice experiment methods to quantify 7 attributes of COVID-19 vaccination: risk of a mild or moderate adverse event after vaccination, risk of a severe adverse event after vaccination, efficacy against COVID-19 infection, efficacy against severe manifestation of COVID-19 infection, duration of protection after vaccination, incentive for completing vaccination, and out-of-pocket costs.Main outcomes and measuresA mixed logit regression model was used to estimate the preferences of attributes for COVID-19 vaccines and marginal willingness to pay (mWTP) adjusted for background characteristics, role, vaccination, and COVID-19 infection status of family or friends, adverse event status after vaccination among family and friends of participants, and scenario block.ResultsAmong 42 451 eligible university students and staff invited, 3423 individuals completed the survey (mean [SD] age, 27.1 [9.9] years; 2053 [60.0%] women). Participants included 2506 students (73.2%) and 917 staff (26.8%), with a response rate of 8.1%. Quarantine-free travel was preferred (β = 0.86; 95% CI, 0.72-0.99; mWTP: $235.9; 95% CI, $190.3-$294.2), followed by efficacy against any COVID-19 infection (β = 0.30; 95% CI, 0.29-0.32; mWTP: $84.1; 95% CI, $71.8-$100.8), against severe manifestation of COVID-19 infection (β = 0.25; 95% CI, 0.24-0.27; mWTP: $69.7; 95% CI, $465-$653), and risk of severe adverse events following vaccination (β = -0.24; 95% CI, -0.27 to -0.21; mWTP: -$66.8; 95% CI, -$81.5 to -$55.3). Participants were less concerned about protection duration (β = 0.17; 95% CI, 0.15-0.18; mWTP: $46.0; 95% CI, $38.6-$56.2) and risk of mild to moderate adverse events (β = -0.12; 95% CI, -0.13 to -0.10; mWTP: -$32.7; 95% CI, -$41.2 to -$26.4).Conclusions and relevancePreference of all attributes were significant and were considered important by the participants for vaccine decision-making. Insights drawn could assist policy makers in future vaccination decisions, such as campus vaccine mandate and requirement of a third dose.
| S-EPMC9115609 | biostudies-literature
Project description:In this pilot study we investigated the vocal strategies of Cantonese women when addressing an attractive vs. unattractive male. We recruited 19 young female native speakers of Hong Kong Cantonese who completed an attractiveness rating task, followed by a speech production task where they were presented a subset of the same faces. By comparing the rating results and corresponding acoustic data of the facial stimuli, we found that when young Cantonese women spoke to an attractive male, they were less breathy, lower in fundamental frequency, and with denser formants, all of which are considered to project a larger body. Participants who were more satisfied with their own height used these vocal strategies more actively. These results are discussed in terms of the body size projection principle.
| S-EPMC8767052 | biostudies-literature
Project description:Data Access Committee EGAC00001000981
| EGAC00001000981 | EGA