In the last 60 years, newborn bloodspot screening (NBS) has expanded as a public health intervention from a single severe childhood genetic disease (SCGD) to up to as many as 80 SCGD and testing of ~40 million newborns/year worldwide. However, the gap between current NBS and its potential to increase the efficiency, effectiveness and global equity of healthcare delivery for SCGD is large and rapidly growing. There are now effective therapeutic interventions—drugs, diets, devices and surgeries—for up to 2000 SCGD. Since almost all SCGD can be identified by bloodspot genome sequencing, it has been a longstanding goal to supplement current NBS with genome sequencing-based NBS (gNBS) for all eligible SCGD. We recently described a novel gNBS platform (named Begin Newborn Genome Sequencing (BeginNGS)) with the potential to overcome several major challenges to gNBS (cost, scalability, false positives and an unprepared healthcare workforce). A pilot clinical trial of BeginNGS for 412 SCGD in a level IV neonatal intensive care unit (NICU) had a true positive rate of 4.2%, sensitivity of 83%, positive predictive value of 100% and clinical utility rate of 4.2%, indicating readiness of the platform for use in a powered, multicentre study.

The BeginNGS study is a single group, international, multicentre, adaptive clinical trial to compare utility, acceptability, feasibility and cost-effectiveness of BeginNGS gNBS (experimental intervention) with standard NBS (control). A minimum of 10 000 neonates (aged 50 000 US children per year.

This study was approved by the WCG Clinical institutional review board on 14 February 2024, and the most recent amendment approved on 7 October 2025 (approval number 20235517). Study findings will be shared through research consortium workshops, national and international conferences, community presentations and peer-reviewed journals.

NCT06306521.

Anxiety and depression are among the top contributors to disability in the Kingdom of Saudi Arabia (KSA), but little is known about their economic impact. This study estimates the economic burden of moderate to severe symptoms of anxiety and depression among adults in KSA.

A cross-sectional survey was administered via a web panel. Participants were asked to fill out the Patient Health Questionnaire-4 (PHQ-4) for themselves and on behalf of other household members to capture prevalence rates. Those who reported at least moderate symptoms of anxiety or depression filled out a longer survey with questions on healthcare utilisation and productivity losses due to symptoms. These responses were monetised using prevalence rates and population estimates to calculate per-person and total annual costs.

Prevalence estimates are based on responses from 1164 participants on behalf of 3202 Saudi adults. Of these, 269 individuals with symptoms completed the longer survey.

Prevalence of anxiety and depression; healthcare utilisation (medications, outpatient, inpatient) and productivity losses due to absenteeism and presenteeism.

In total, 26.2% reported at least moderate symptoms consistent with anxiety and/or depression. Among those with symptoms, direct healthcare costs due to anxiety and depression averaged Saudi riyal (SAR) 3431.95 per person annually. Indirect costs via absenteeism and presenteeism averaged SAR 9702.87 and SAR 24 577.28 per person assuming that anxiety and/or depression episodes last for 6 months. Summing up the healthcare costs and productivity losses yields a total annual economic burden of SAR 163.3 billion. Absenteeism accounts for 24.8% of this total (SAR 40.5 billion), presenteeism accounts for 62.8% (SAR 102.5 billion) and healthcare resource utilisation accounts for 12.4%(SAR 20.3 billion).

The overall prevalence of anxiety and depression in KSA is estimated at 26.2%. The economic burden associated with these symptoms amounts to SAR 163.3 billion or 4.1% of GDP. Absenteeism and presenteeism costs account for the vast majority of the total, but a large percentage (nearly 60%) also report emergency department visits and unplanned hospital admissions. Evidence-based interventions should be considered to address the health and economic burden of these conditions in KSA.