First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

Newborn screening (NBS) is one of the most successful and impactful public health initiatives of the past 50 years (Cao et al. 2024). It offers early detection, diagnosis, and intervention that can prevent both physical and mental disability or even death (Nishio and Awano 2025). It helps ensure that children can grow up healthy and reach their full potential. Qatar became the first country in the region to implement a comprehensive National Metabolic Newborn Screening program since 2003 as the result of the successful collaboration between Hamad Medical Corporation (HMC) and the University Children's Hospital of Heidelberg (UCH) in Germany (Lindner et al. 2007). Since 2003, this partnership has utilized advanced technologies, including Tandem Mass Spectrometry (MSMS), to detect more than 72 (Hamad Medical Corporation (HMC) 2023) treatable inherited metabolic disorders before clinical symptoms appear (Jamaleddin et al. 2025). This early detection is made possible by measuring biochemical metabolites in Dried Blood Spot (DBS) cards collected through a simple heel prick test, typically performed 24 h after birth. As of 2026, the population of Qatar is estimated at 3,173,559 people with Qatari citizens of about 380,000 (Department of Economic and Social Affairs Population Division UN 2026). Since 2003, 428,881 babies have been screened since the inception of the National Metabolic Newborn Screening program helping to diagnose and treat severe conditions that would have otherwise gone undetected until later in life. Based on Qatar's metabolic screening unit in Women Wellness and Research Center (WWRC), it has been estimated that the uptake rate is approximately 100%, given that it's required for anyone born in the State of Qatar. From the period from 2010 till 2023 it was estimated that the number of identified cases through National Metabolic Newborn Screening program was 318, with classical homocystinuria (HCU) being the most common due to founder effect (Lindner et al. 2007; Jamaleddin et al. 2025). With the rapid advancements in genomic medicine, there is growing interest in leveraging genomic sequencing technology to further enhance NBS programs (Stark and Scott 2023; Boemer et al. 2017) (Nishio and Awano 2025). While current metabolic screening techniques can detect a wide array of treatable metabolic disorders, many genetic diseases, particularly those not detectable through metabolic screening, remain undiagnosed until later in life. The potential of genomic sequencing lies in its ability to identify genetic disorders early on—before clinical symptoms arise—offering the possibility of earlier interventions, more personalized treatments, and better outcomes for affected newborns (Boemer et al. 2021; Ziegler et al. 2025). Incorporating genomic sequencing into NBS at the population level is a potentially important public health It promises to significantly expand the scope of early detection for treatable genetic and metabolic diseases, which could lead to timely diagnoses and effective treatments that ultimately reduce the burden of genetic diseases on individuals, families, and healthcare systems (Ziegler et al. 2025). In this research letter we introduce our pilot study that brings together three key collaborators: HMC (Department of Medical Genetics, Department of Laboratory Medicine and Pathology, and the Newborn Screening Unit), Qatar Precision Medicine Institute (QPHI), and UCH, Germany (Institute of Human Genetics and Newborn Screening Center). The goal is to pioneer an innovative gNBS program in the region, marking a significant shift toward utilizing advanced genetic testing techniques to identify genetic disorders before clinical symptoms appear. The existing infrastructure and the long-standing collaboration between HMC and UCH, along with the cutting-edge research capabilities at QPHI, position this initiative as a pioneering effort in the future of NBS. Through this innovative program, Qatar aims to establish itself as a global leader in the early detection and treatment of genetic disorders in newborns, advancing public health and contributing to the overall health and well-being of future generations. This project is not only a clinical innovation, but also an important milestone in the era of genomic medicine, ushering in a new frontier for NBS that could significantly change the lives of countless children and their families in the years to come. In this IRB-approved pilot research study, umbilical cord blood will be collected from a total of 10,000 Qatari newborns in Qatar, with the first phase involving 1000 newborns. Recruitment will take place at the WWRC at HMC, the main governmental hospital with the highest birth volume in Qatar The samples will undergo DNA extraction and screening for a range of treatable genetic and metabolic disorders using the Qatar-chip version 2 (Q-chip), a genotyping microarray specifically tailored for population-level screening initiatives in Qatar (Figure 1). The Qatar Micro Chip (QChipV2) is a CAP accredited genotyping microarray specifically tailored for population-level screening initiatives in Qatar. This technology uses a modular approach, allowing researchers to customize content to target specific variants of interest, such as rare or population-specific markers. The Axiom workflow involves hybridizing DNA samples to microarrays, followed by amplification, labeling, and detection of SNPs or indels using fluorescence-based readouts. The results are processed through advanced bioinformatics tools, delivering fast, accurate, and reproducible genotypic data for applications in population studies, genome-wide association studies (GWAS), and clinical research. The current QChipV2 technology focuses on the most prevalent genetic variants among Qatari and regional populations. Enhancements in QChipV3 will include expanded gene coverage, incorporating risk variants from additional populations, and modules for specific, prevalent health conditions. Spinal Muscular Atrophy (SMA) will be tested using DBS cards; the Eonis SCID-SMA kit is used for SMA NBS. SMA is not typically part of IEM or the National Metabolic Newborn Screening program in Qatar; it was chosen to be added to our testing list due to the high incidence of SMA in Qatar and the benefit of early detection on medical intervention and treatment. The diseases selected for screening in this pilot study were chosen and approved by both HMC and the University College Hospital (UCH) of Heidelberg experts in NBS and medical genetics, based on the prevalence of treatable genetic disorders globally and specifically in Qatar (Table 1), particularly where high rates of consanguinity contribute to a higher incidence of autosomal recessive genetic diseases such as lysosomal storage diseases, neurogenetic and neurometabolic disorders, etc. For functional analysis, enzyme assays, metabolite testing, and any other specialized analyses, those will be sent to Heidelberg for further examination. Additionally, this pilot study will be conducted alongside the standard metabolic NBS for women who choose to participate. We anticipate that genomic NBS will offer higher sensitivity, specificity, clinical utility, and cost-effectiveness compared to traditional metabolic screening. As a result, genomic screening has the potential to facilitate earlier diagnosis of serious, life-threatening, treatable genetic and metabolic diseases. This would enable timely interventions, allowing newborns to receive treatment before symptoms appear, thus preventing death or long-term health complications. Once developed and successfully implemented, this concept could be expanded across Qatar, ultimately providing genomic screening for all newborns in the country. Metabolic NBS has high sensitivity for detecting many inborn errors of metabolism (IEM). For instance, total homocysteine is a reliable marker for cystathionine β-synthase deficiency, with sensitivity approaching 100% (Gan-Schreier et al. 2010). However, biochemical markers often have lower specificity for some disorders, including classical homocystinuria, which is relatively common in Qatar. Genomic newborn screening (gNBS) can complement metabolic screening by improving specificity and enabling detection of genetic conditions without reliable biochemical markers, such as SMA, which has an estimated incidence of about 1 in 20 in Qatar. Published data suggest that gNBS has lower overall sensitivity (~88%) but higher specificity (up to 94%) than metabolic NBS. When it comes to prevalent diseases, exome sequencing has shown higher sensitivity and specificity compared with rarer metabolic disorders (Woerner et al. 2021). Given the relatively high incidence of genetic disorders in Qatar, integrating genomic screening alongside metabolic NBS could improve diagnostic performance and potentially enhance the cost-effectiveness of NBS programs. We anticipate that this program could serve as a model for other countries in the region, with the potential for adaptation and scaling in broader international contexts to improve early detection and intervention for treatable genetic conditions. The authors would like to extend their appreciation for the participants and their families that were included in the study. This project has been funded by Hamad medical corporation and Qatar Precision Health Insistute (QPHI). IRB approval number (IRB MRC-01-19-293). The authors declare no conflicts of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.