The dawn of a new era in genetic disease research
Next-generation sequencing (NGS) technologies are driving a revolution in genetic disease research, offering speed and accuracy in identifying disease-causing variants. These advancements promise early detection, potentially transforming healthcare, especially in the context of newborn health services and research.
However, despite their massive potential, NGS technologies have yet to be widely integrated into or alongside newborn screening programs. This is due to a series of complex questions that remain outstanding. For example, how can we ensure equitable access to these life-changing technologies, regardless of geographical location or socioeconomic status? How do we balance the benefits of early genetic screening with its potential psychological impact on families? These questions demand innovative solutions and have sparked ongoing dialogue among professionals worldwide.
Several laboratories are leading research efforts, integrating NGS technologies with newborn screening. Amongst Revvity’s many active NGS projects, here’s a preview of two of our partnerships with two forward-thinking institutions.
Early Check: a groundbreaking approach to newborn screening
Early Check, a voluntary research program offered by RTI International for newborns in North Carolina, USA, is reimagining newborn screening. It aims to identify rare health conditions, the majority of which are not currently part of standard screening programs, using the same blood spot card collected for routine newborn screening.
The program's innovative approach maximizes existing resources while minimizing additional procedures on newborns. By identifying conditions early, Early Check opens possibilities for timely intervention and treatment, potentially altering the trajectory of a child's health and development.
Revvity was chosen to provide genome sequencing and clinical interpretation services for the Early Check program. Read about Revvity’s role here.
The Early Check program represents a significant step forward in newborn health. Learn more about Early Check here.
Screen4Care: shortening the path to rare disease diagnosis through newborn screening and digital technologies
Screen4Care, funded by the European Innovative Medicines Initiative (IMI) program, is committed to creating an innovative framework for diagnosing rare diseases. The project integrates newborn genetic screening with digital technologies to significantly reduce the time required for individuals living with a rare disease to receive a diagnosis, which currently takes an average of five years.
In addition to advancing newborn screening and developing AI-based digital tools, the team takes a comprehensive approach by actively involving patients in its overall structure, particularly through EURORDIS, the European alliance for rare disease patients, which serves as a key partner.
Revvity joined Screen4Care as a project partner in January 2024, contributing our expertise in genomics and diagnostics. In 2025, we are pleased to host Screen4Care’s annual meeting in Turku, Finland. Learn more about Revvity’s role with Screen4Care here.
The promise and challenges of NGS in newborn screening
Early Check and Screen4Care share common goals: leveraging NGS technologies to expand newborn screening and improve patient outcomes through early detection and intervention. For researchers, these programs provide valuable data that could lead to new insights into rare diseases, their progression, and possible treatments. The potential benefits these technologies can offer are significant.
However, it's important to note that NGS-based technologies have been inaccessible for many laboratories due to high equipment costs, the need for specialized expertise, and challenges surrounding data interpretation.
At Revvity, we've spent decades in the rare disease space. Our end-to-end NGS workflow is designed to address these challenges, making advanced genetic research more accessible to laboratories worldwide. We're proud to see our technologies and expertise playing a significant role in projects like Early Check and Screen4Care.
As we look to the future, we're excited about NGS's potential to transform newborn screening and rare disease research. By making these technologies more accessible, we can drive improvements in newborn health beyond expectation.
Want to stay up to date on the latest developments in newborn sequencing research? Subscribe to our eNewsletter today.
What’s next? Dive deeper into our NGS workflow for newborn research.
