Human ; Infant, Newborn ; Mass Screening ; Neonatal Screening ; Censuses

Infant, Newborn ; Mass Screening ; Neonatal Screening

Human ; Mass Screening ; Mothers ; Nuchal Translucency Measurement ; Prenatal Diagnosis

In recognition of the morbidity and mortality associated with human immunodeficiency virus (HIV), the Joint United Nations Programme on HIV/acquired immunodeficiency syndrome (AIDS) (UNAIDS) aims to end the epidemic by setting and striving to achieve the ambitious 95-95-95 targets. However, Singapore is still not performing well in the first UNAIDS target. The National HIV Programme (NHIVP) developed this set of recommendations based on an adaptation of major international guidelines from the World Health Organization and the US Centers for Disease Control and Prevention. The goals of this recommendation are: (1) to increase the uptake of HIV testing; (2) to allow earlier detection and identification of individuals with unrecognised HIV infection; (3) to facilitate linkage to clinical services; and (4) reduce further transmission of HIV infection in Singapore.
Humans ; Singapore/epidemiology* ; HIV Infections/epidemiology* ; United States ; HIV Testing ; Mass Screening ; World Health Organization ; Practice Guidelines as Topic ; Centers for Disease Control and Prevention, U.S. ; National Health Programs

INTRODUCTION: The high prevalence and mortality rates of breast cancer and lung cancer in Singapore necessitate robust screening programmes to enable early detection and intervention for improved patient outcomes, yet 2024 uptake and coverage remain suboptimal. This narrative review synthesises expert perspectives from a recent roundtable discussion and proposes strategies to advance breast cancer and lung cancer screening programmes. METHOD: A 2024 roundtable convened clinical practitioners, health policymakers, researchers and patient advocates discussed current challenges and opportunities for improving cancer screening in Singapore. Perspectives and insights were analysed to identify themes related to existing programme gaps, opportunities for innovation and implementation challenges. DISCUSSION: Singapore's national breast cancer screening programme has been in place for over 2 decades, yet screening uptake remains suboptimal. A national lung cancer screening programme, in contrast, is still in its early stages of implementation. Regardless, employment of risk stratification approaches that integrate genetic, demographic and lifestyle factors could enhance screening effectiveness by identifying high-risk indivi-duals, while also taking local epidemiological trends into consideration. Integration of digital health technologies, artificial intelligence and behavioural change models can enhance cancer screening uptake and accuracy to overcome barriers such as low awareness, cultural beliefs and socioeconomic factors that contribute to low participation rates. CONCLUSION Key recommendations include enhancing public awareness, refining screening guidelines, expanding access and applying innovative technologies. A coordinated effort among stakeholders is crucial to continually assess and enhance screening programmes to narrow the practice-policy gap and ultimately reduce breast cancer and lung cancer burden in Singapore.
Humans ; Singapore/epidemiology* ; Lung Neoplasms/epidemiology* ; Breast Neoplasms/epidemiology* ; Early Detection of Cancer/methods* ; Female ; Mass Screening/organization & administration*

INTRODUCTION: Risk-based screening (RBS) has emerged as a promising alternative to age-based cancer screening. However, evidence regarding real-world implementation outcomes remains fragmented. Thus, a systematic review was conducted to evaluate the implementation metho-dologies and outcomes of RBS programmes across different cancer types. METHODS: MEDLINE, Embase, CINAHL, Web of Science, Cochrane Central Register of Controlled Trials and Scopus were systematically searched from their respective dates of inception up to 8 July 2024. Prospective and rando-mised controlled trials (RCTs), which implement the RBS of cancer in an asymptomatic population, or studies retrospectively evaluating the outcomes of the same were included. Geographic distribution, population characteristics, RBS methodology, diagnostic accuracy and clinical outcomes were narratively synthesised. RESULTS: Among the 33 included studies (i.e. 21 prospective cohort, 8 RCTs, 3 retrospective and 1 non-RCT), sample sizes ranged from 102 to 1,429,890 participants. Most RBS trials were conducted in China (n=7, 21.2%), followed by the Netherlands (n=4, 12.1%) then the US, Australia and Sweden (n=3, 9.8%). Studies predominantly examined colorectal (27.3%), breast (21.2%) and prostate cancer (18.2%). Three main stratification approaches emerged: algorithmic (48.5%), validated risk models (39.4%) and physician assessment (9.1%). Implementation outcomes showed higher uptake in moderate-risk (75.4%) compared to high-risk (71.3%) and low-risk groups (67.9%). Five studies demonstrated cost-effectiveness with increased quality-adjusted life years, while 12 studies showed superior or non-inferior cancer detection rates compared to traditional screening. CONCLUSION The RBS of cancer has the potential to optimise healthcare resource allocation while minimising harm and increasing receptiveness for patients. More work is needed to evaluate long-term outcomes prior to the scaling of RBS programmes.
Humans ; Early Detection of Cancer/methods* ; Neoplasms/diagnosis* ; Risk Assessment ; Mass Screening/methods*

Humans ; Metabolic Syndrome/therapy* ; Child ; Mass Screening/methods* ; China ; Pediatrics ; Risk Factors

Humans ; Motor Skills Disorders/diagnosis* ; Child ; Mass Screening/methods* ; China ; Practice Guidelines as Topic ; Child, Preschool

Humans ; Bronchiolitis Obliterans/etiology* ; Early Diagnosis ; Pneumonia, Mycoplasma/complications* ; Consensus ; Child ; Mycoplasma pneumoniae ; China/epidemiology* ; Mass Screening ; Adenoviridae Infections/complications*

OBJECTIVES: To evaluate the clinical value of next-generation sequencing (NGS) in neonatal disease screening, particularly its advantages when combined with tandem mass spectrometry (MS/MS). METHODS: A prospective study was conducted involving blood samples from 1 999 neonates born at the Shenzhen Guangming District People's Hospital, between May and August 2021. All samples were initially screened using MS/MS and fluorescence immunoassay, followed by NGS to detect high-frequency variation sites in 135 related pathogenic genes. Suspected positive variants were validated using Sanger sequencing or multiplex ligation-dependent probe amplification in family studies. RESULTS: No confirmed positive cases were found in the MS/MS analysis of the 1 999 neonates. Genetic screening identified 58 positive cases (2.90%), 732 carriers of pathogenic genes (36.62%), and 1 209 negative cases (60.48%). One case of neonatal intrahepatic cholestasis was diagnosed (0.05%, 1/1 999). Fluorescence immunoassay identified 39 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency (1.95%, 39/1 999), while genetic screening identified 43 cases of G6PD deficiency (2.15%, 43/1 999). The fluorescence immunoassay also detected 6 cases of hyperthyrotropinemia (0.30%, 6/1 999), all of whom carried DUOX2 gene variants. The top ten pathogenic gene carrier rates were G6PD (12.8%), DUOX2 (8.7%), HBB (8.2%), ATP7B (6.6%), GJB2 (5.7%), SLC26A4 (5.6%), PAH (5.6%), ACADSB (4.6%), SLC25A13 (4.2%), and SLC22A5 (4.1%). CONCLUSIONS NGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.
Humans ; Infant, Newborn ; High-Throughput Nucleotide Sequencing/methods* ; Neonatal Screening/methods* ; Tandem Mass Spectrometry ; Prospective Studies ; Female ; Male ; Infant, Newborn, Diseases/diagnosis* ; Genetic Testing