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Children with genetic diseases endure a prolonged and costly "diagnostic odyssey." The use of whole exome sequencing (WES) and whole genome sequencing (WGS) has improved the diagnosis rate, ending the odyssey. However, the additional costs associated WES/WGS has impeded their adoption in Asian settings. We aim to estimate the expected change to the mean number of diagnostic tests used, and the associated costs from a decision to use WES early in the diagnostic pathways of pediatric phenotypes, as compared to Existing Practice. Retrospective data from a patient cohort recruited under the Singapore Undiagnosed Disease Program from a tertiary hospital in Singapore, for the period October 2004 to September 2020, was analyzed. Four phenotype-specific subgroups were used: multiple congenital anomalies (MCA) without developmental delay; global developmental delay (GDD); neuromuscular disorder (NMD) and primary immunodeficiency disorder (PID). Patients had undergone a traditional diagnostic pathway and received a diagnosis either through clinical exome or WES or WGS. A costs only analysis was performed, by tabulating the outcomes "test quantity" and "test costs" incurred by patients. The outcomes were compared with alternate diagnostic pathways which incorporates the early introduction of WES trio testing. To include uncertainty in cost outcomes, simulation studies were done on uncertain parameters. Cost outcomes are reported in Singapore dollars (S$). The 92 included patients had MCA (n = 48), GDD (n = 29), NMD (n = 10), or PID (n = 5). Patients were aged between 18 days and 26 years, 52.2% were males. The majority were of Chinese ethnicity (81.5%). If patients had access to WES directly, test quantity reduced by 97.38% for MCA, 96.98% for GDD, 96.56% for NMD, and 99.84% for PID. The expected cost savings per patient were $5940 for MCA (US$4433), $5342 for GDD (US$3986), $4622 for NMD (US$3449), and $58,497 for PID (US$43,654). Uncertainty assessment for MCA and GDD patients showed a respective likelihood of 86.9% and 97.4% for cost savings. Adoption of alternate diagnostic pathways with early WES in selected pediatric subgroups are likelt to reduce costs, when compared to Existing Practice. Benefits arising from earlier diagnosis, and the potential cost savings could mitigate the large initial cost of implementing WES in Asian settings.

The economic burden of neuro-ischaemic ulcers (NIU) is expected to increase because of rising prevalence of comorbidities in an aging population. We aim to estimate healthcare resources consumed by NIU patients, and to quantify the extent to which factors explain variation in cost-related outcomes. We analysed retrospective patient-level cohort data for NIU patients from a tertiary hospital registry in Singapore, from 2013 to 2017, using generalised linear regression models. The outcome variables were the length of stay per admission; inpatient and outpatient bill per admission; and, if they had an Emergency Department visit. Cost outcomes were reported in Singapore dollars (S$). A total of 1682 patients were included, and the mean age was 69.9 years (±13.0). An average patient incurred a length of stay of 38.7 days, 7.9 inpatient dressing sessions, an inpatient bill of S$33 096, 11.3 outpatient dressing sessions, and an outpatient bill of S$8780. Inpatient services per patient cost 73.5% higher than outpatient services. NIU patients with multiple (3) comorbid conditions, peripheral artery disease, or chronic kidney disease incurred longer hospitalisation and higher inpatient bill. Patients with diabetes mellitus and coronary artery disease had higher odds of incurring an ED visit. Patients with coronary artery disease, hyperlipidaemia, kidney complications, or obesity incurred higher outpatient bills. NIU treatment imposes a significant economic burden, especially with inpatient services.

To compare the prevalence of and risk factors associated with overweight or obesity between the international (body mass index [BMI] ≥25 kg/m2) and Asian (BMI ≥23 kg/m2) criteria in a working population in Singapore. This was a cross-sectional analysis of a cohort study of 464 employees (aged ≥21 years) conducted at 4 workplaces in Singapore. The prevalence of overweight or obesity was 47.4% and 67.0% with the international and Asian criteria, respectively. With both the criteria, higher age, male sex, Malay ethnicity (vs Chinese), lower white rice intake, and consumption of sugar-sweetened beverages were positively associated with overweight or obesity. Participants with poorer mental health and higher levels of thermal comfort in the workplace were positively associated with overweight or obesity only with the Asian criteria. The use of international criteria alone in this population could have overlooked these risk factors that are highly relevant to the Singapore context.

Indoor environmental quality (IEQ) is a general indicator of the quality of conditions inside a building. We investigated associations of perceived IEQ including air quality, thermal comfort, noise, and light quality with stress at work and the extent to which workplace location modifies these associations. We recruited 464 full-time workers from four companies in Singapore. Data on socio-demographic characteristics, lifestyle/health-related factors, and workplace factors were collected through self-administered questionnaires. Perceived IEQ satisfaction scores of all four factors were collected using the validated OFFICAIR questionnaire. We fitted a logistic regression model to assess associations between each perceived IEQ score and stress at work, adjusting for potential confounders. The odds ratio for stress at work associated with a 1-unit increase in perceived air quality score was 0.88 (0.82-0.94), 0.89 (0.82-0.97) for thermal comfort, 0.93 (0.87-0.98) for noise, and 0.88 (0.82-0.94) for light quality. Significant associations were found in office and control rooms for all four perceived IEQ, except for thermal comfort in office rooms. Higher satisfaction levels of perceived air quality, thermal comfort, noise, and lighting, were significantly associated with a reduction in stress at work. Our findings could potentially provide a useful tool for environmental health impact assessment for buildings. Ministry of National Development (MND) National Research Foundation (NRF) This research is supported in part by the Singapore Ministry of National Development and the National Research Foundation, Prime Minister’s Office under the Land and Liveability National Innovation Challenge (L2 NIC) Research Programme (L2 NIC Award No. L2NICCFP1-2013-2).