Asian populations are under-represented in human genomics research. Here, we characterize clinically significant genetic variation in 9051 genomes representing East Asian, South Asian, and severely under-represented Austronesian-speaking Southeast Asian ancestries. We observe disparate genetic risk burden attributable to ancestry-specific recurrent variants and identify individuals with variants specific to ancestries discordant to their self-reported ethnicity, mostly due to cryptic admixture. About 27% of severe recessive disorder genes with appreciable carrier frequencies in Asians are missed by carrier screening panels, and we estimate 0.5% Asian couples at-risk of having an affected child. Prevalence of medically-actionable variant carriers is 3.4% and a further 1.6% harbour variants with potential for pathogenic classification upon additional clinical/experimental evidence. We profile 23 pharmacogenes with high-confidence gene-drug associations and find 22.4% of Asians at-risk of Centers for Disease Control and Prevention Tier 1 genetic conditions concurrently harbour pharmacogenetic variants with actionable phenotypes, highlighting the benefits of pre-emptive pharmacogenomics. Our findings illuminate the diversity in genetic disease epidemiology and opportunities for precision medicine for a large, diverse Asian population.

Understanding the impact of age on vaccinations is essential for the design and delivery of vaccines against SARS-CoV-2. Here, we present findings from a comprehensive analysis of multiple compartments of the memory immune response in 312 individuals vaccinated with the BNT162b2 SARS-CoV-2 mRNA vaccine. Two vaccine doses induce high antibody and T cell responses in most individuals. However, antibody recognition of the Spike protein of the Delta and Omicron variants is less efficient than that of the ancestral Wuhan strain. Age-stratified analyses identify a group of low antibody responders where individuals ≥60 years are overrepresented. Waning of the antibody and cellular responses is observed in 30% of the vaccinees after 6 months. However, age does not influence the waning of these responses. Taken together, while individuals ≥60 years old take longer to acquire vaccine-induced immunity, they develop more sustained acquired immunity at 6 months post-vaccination. A third dose strongly boosts the low antibody responses in the older individuals against the ancestral Wuhan strain, Delta and Omicron variants.

Background: Health care professionals are increasingly using smartphones in clinical care. Smartphone use can affect patient quality of care and clinical outcomes. Objective: This scoping review aimed to describe how physicians use smartphones and mobile apps in clinical settings. Methods: We conducted a scoping review using the Joanna Briggs Institute methodology and reported the results according to PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines. We used the following databases in our literature search: MEDLINE, Embase, Cochrane Library, Web of Science, Google Scholar, and gray literature for studies published since 2010. An additional search was also performed by scanning the reference lists of included studies. A narrative synthesis approach was used. Results: A total of 10 studies, published between 2016 and 2021, were included in this review. Of these studies, 8 used surveys and 2 used surveys with focus group study designs to explore smartphone use, its adoption, experience of using it, and views on the use of smartphones among physicians. There were studies with only general practitioners (n=3), studies with only specialists (n=3), and studies with both general practitioners and specialists (n=4). Physicians use smartphones and mobile apps for communication (n=9), clinical decision-making (n=7), drug compendium (n=7), medical education and training (n=7), maintaining health records (n=4), managing time (n=4), and monitoring patients (n=2) in clinical practice. The Medscape medical app was frequently used for information gathering. WhatsApp, a nonmedical app, was commonly used for physician-patient communication. The commonly reported barriers were lack of regulatory oversight, privacy concerns, and limited Wi-Fi or internet access. The commonly reported facilitator was convenience and having access to evidence-based medicine, clinical decision-making support, and a wide array of apps. Conclusions: Smartphones and mobile apps were used for communication, medical education and training, clinical decision-making, and drug compendia in most studies. Although the benefits of smartphones and mobile apps for physicians at work were promising, there were concerns about patient privacy and confidentiality. Legislation is urgently needed to protect the liability of health care professionals using smartphones.

Health literacy is a key determinant of the public health and health climate of the nation. This study examined the functional health literacy of the nation, factors associated with health literacy, and its relationship with diabetes recognition. This cross-sectional survey recruited participants (N = 2895) who were 18 years and above from a population registry through disproportionate stratified sampling. The Brief Health Literacy Screen and other questionnaires were administered through face-to-face interviews, in one of the four national languages (English, Chinese, Malay or Tamil). The majority (80.5%) had adequate functional health literacy and were able to recognise symptoms of diabetes correctly (83.5% overall; 83.7% and 82.2% in those with adequate and inadequate health literacy, respectively). Those with inadequate health literacy had a higher incidence of chronic conditions (p < 0.001) compared to those with adequate health literacy in bivariate analysis. The majority of the sample had sufficient levels of physical activity (83.3%), and more than half reported an unhealthy lifestyle (57.4%). Older age, Chinese ethnicity, those who were employed, with lower education (secondary or below), and were married had significantly higher odds of inadequate health literacy. Health literacy was not associated with lifestyle, physical activity, chronic conditions and diabetes recognition. Health literacy interventions should focus on the disadvantaged social groups for improving their health literacy.

Background: Multimorbidity presents a key challenge to healthcare systems globally. However, heterogeneity in the definition of multimorbidity and design of epidemiological studies results in difficulty in comparing multimorbidity studies. This scoping review aimed to describe multimorbidity prevalence in studies using large datasets and report the differences in multimorbidity definition and study design. Methods: We conducted a systematic search of MEDLINE, EMBASE, and CINAHL databases to identify large epidemiological studies on multimorbidity. We used the Preferred Reporting Items for Systematic Reviews and Meta-analysis Extension for Scoping Reviews (PRISMA-ScR) protocol for reporting the results. Results: Twenty articles were identified. We found two key definitions of multimorbidity: at least two (MM2+) or at least three (MM3+) chronic conditions. The prevalence of multimorbidity MM2+ ranged from 15.3% to 93.1%, and 11.8% to 89.7% in MM3+. The number of chronic conditions used by the articles ranged from 15 to 147, which were organized into 21 body system categories. There were seventeen cross-sectional studies and three retrospective cohort studies, and four diagnosis coding systems were used. Conclusions: We found a wide range in reported prevalence, definition, and conduct of multimorbidity studies. Obtaining consensus in these areas will facilitate better understanding of the magnitude and epidemiology of multimorbidity.

Single-disease clinical practice guidelines (CPGs) are not designed to consider patients with multiple chronic conditions, or multimorbidity. Applying multiple CPGs to a single patient may create an overwhelming treatment burden resulting in poor adherence and clinical outcomes. No studies on the cumulative treatment burden from multiple CPGs have been done in Singapore. We described the treatment burden on a hypothetical patient with six chronic conditions when multiple CPGs were applied, and appraised each CPG with respect to the patient-centred care of older adults with multimorbidity. A treatment plan was developed for a hypothetical 72-year-old woman with asthma, depression, diabetes mellitus, dyslipidaemia, hypertension and osteoarthritis according to the latest CPG recommendations. Treatment burden was quantified in terms of time spent, cost, and the number of appointments and medications. Each CPG was appraised with respect to the care of older adults, patients with multimorbidity and patient-centred care. Following the CPGs strictly, an average of about two hours was spent daily taking 14 different medications and following 21 non-pharmacological recommendations. Her out-of-pocket payment was SGD 104.42 monthly despite a near 90% subsidy on healthcare bills. Patient-centred care of older adults with multimorbidity was inadequately addressed in all six CPGs. When six CPGs were cumulatively followed, the treatment burden was time consuming, costly and disruptive. Patients' goals and preferences must guide prioritisation of care such that treatment burden remains minimally disruptive to their lives. Developing future CPGs to deliver patient-centred rather than disease-focused care will be crucial to the management of multimorbidity.