What Is Newborn Screening?
Pairing sensitive genetic technologies with heel prick samples for newborn screening increases genomic knowledge and enhances diagnostic testing for early detection, timely intervention, and effective treatment of heritable conditions.
Newborn screening searches for genetic markers in blood or heel prick samples to detect health issues in infants, enabling crucial early intervention that improves long term outcomes.1 For example, recent global initiatives to routinely screen for rare heritable conditions such as severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) have been invaluable to early disease identification and effective therapeutic management.2
Newborn screening centers often strive to optimize their processes and create more time efficient protocols while meeting the infrastructure requirements of modern-day molecular testing laboratories.3 The advent of innovative PCR-based techniques that streamline and enhance existing approaches, such as dry PCR, promises to further improve newborn screening laboratory workflows.4
Streamlined Processes, Speedier Interventions
Traditional molecular screening procedures that use quantitative PCR (qPCR) involve many manual steps, including tedious tube transfers, sample separations, and master mix calculations, which can be time consuming and risk several opportunities for human error. One significant advancement in newborn screening technology is the integration of protocols with fewer steps between sample collection and results. For instance, dry PCR makes use of pre-plated and dried plates to eliminate wash steps and master mix preparation, streamlining gene of interest amplification and detection.5 Protocols with fewer hands-on elements minimize user error and support timely interventions, ensuring rapid and accurate diagnostic testing, which is crucial for treating conditions that have narrow therapeutic windows such as SCID and SMA.4
Optimizing Space and Testing More Targets
As technologies and research knowledge expand, many newborn screening laboratories aim to add new disease targets and testing equipment to their current services. Access to newborn screening is a global priority, but screening centers across different socioeconomic contexts face unique space constraints and resource limitations that may impede equipment and method accommodations.2 For example, qPCR-based diagnostic tests often necessitate designated sample preparation areas to ensure the laboratory space remains RNAse-free and uncontaminated for sensitive and accurate detection. Additionally, working with biological samples and degradation-prone analytes typically requires ultracold storage for kits and reagents.6 Scientists benefit from contemporary protocols and platforms that make the most of the available bench space through small instrumental footprints and straightforward workflows. Stable and pre-plated reagents, along with compact machinery, help researchers access, simplify, and maximize molecular testing.4
Integrating Intuitive Data Management
Just as methodologies and equipment must progress to improve newborn screening, efficient data management and interpretation is crucial for effective diagnostics in the 21st century. Traditional paper-based record keeping systems can be cumbersome and prone to errors, and manually analyzing conventional qPCR amplification curves after lengthy workflows can hinder readout interpretation.7 New software solutions often accompany novel methods, such as integrated data management systems for cutting-edge PCR platforms, which streamline real-time data capture analysis and storage, providing fast and reliable results.
Dry PCR as a Novel Solution to Molecular Screening
The Eonis™ Q system from Revvity is an innovative dry PCR workflow that simplifies and streamlines molecular testing for SMA and SCID. It comprises the compact Eonis™ Q96 instrument, stable and pre-plated reagents in the Eonis™ SCID-SMA kit, and dedicated Eonis™ EASI™ software for real-time analysis. Eonis™ Q has the potential to significantly transform how newborn screening laboratories manage their services, resources, and infrastructure. Its compact design is suitable for laboratories of all sizes and capabilities, including new and established newborn testing centers, low- and medium-throughput labs, and those without a dedicated clean room for PCR. By simplifying processes and maximizing space, this system enhances the potential for better patient outcomes and enables healthcare providers to more readily support underserved populations with accessible, sensitive, and accurate newborn screening.
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