Newborn Screening
What is the Newborn Screening?
Newborn screening (NBS) is a vital public health program that enables the early detection of serious rare conditions in newborns. These screenings, performed within the first days of life, can identify treatable disorders that, if left undiagnosed, may lead to severe health complications or even death. Through early diagnosis, newborn screening offers the potential for timely interventions that can significantly improve the quality of life and long-term outcomes for affected children.
NBS and Inherited Metabolic Disorders
The current status of NBS programs
Since its introduction 60 years ago, NBS has expanded significantly, evolving in various ways across different political, economic, cultural, and geographic contexts. In most high-income countries, NBS typically functions as an effective disease prevention system, managed by public health programs aimed at reducing newborn morbidity and mortality for the benefit of both families and society. Unfortunately, this success has not been universally achieved. In some regions, NBS is still in its early stages, remains poorly organized, or has yet to be implemented.
NBS programs map
NBS map of disorders coverage
IMD Patients’ voice
A recent Rare Barometer survey on the time to diagnosis and determinants of diagnostic delays conducted by Eurordis-Rare Diseases Europe has highlighted the strong support within the rare metabolic community for newborn screening (NBS) for all rare diseases. The vast majority of participants expressed a preference for having their rare metabolic condition diagnosed at birth.
For more details, refer to the related publication and the infographic highlighting results specific to inherited metabolic disorders.
MetabERN role
Key Activities and Initiatives
As part of its mission to improve the care of patients with rare metabolic disorders, MetabERN works to ensure that newborn screening is widely understood and accessible across Europe. To achieve this, MetabERN is actively involved in various initiatives aimed at promoting awareness, advocating for policy changes, and advancing scientific knowledge in the field of newborn screening:
- Organization and promotion of Conferences and Workshops that bring together experts, healthcare professionals, researchers, patient organizations, and policymakers
- Achieving Equity and Innovation in Newborn Screening – an accompanying event of the Slovenian Presidency of the Council of the EU
- Moving towards NBS as a system: Setting out the roadmap
- Facilitation of On-Site Visits and Exchanges between medical professionals and screening centers, allowing for the sharing of expertise and the strengthening of networks between countries and regions with established screening programs and those looking to improve or implement them.
- Publication of Scientific Papers
- Towards Achieving Equity and Innovation in Newborn Screening across Europe. International Journal of Neonatal Screening. 2022; 8(2):31.
- Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe. Lancet Reg Health Eur. 2022 Jan 28;13:100311
- Promotion of Actions and Initiatives, aiming to educate the public, healthcare professionals, and policymakers about the life-saving potential of newborn screening.
- support to the Call To Action – Newborn Screening for Rare Diseases launched by Screen4Rare
- promotion of the International Neonatal ScreeningDay, a dedicated annual event led by the International Society for Neonatal Screening (ISNS), the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and the European Society for Immunodeficiencies (ESID), working in partnership under the Screen4Rare initiative.
Partnerships
MetabERN’s efforts are greatly enhanced through strong partnerships with key organizations, including the International Society for Neonatal Screening (ISNS) and the Screen4Rare consortium.
The International Society for Neonatal Screening (ISNS) is aiming to advance screening for neonatal and infant sicknesses and disorders, worldwide. ISNS has around 500 members in more than 70 different countries. Most members have a professional (para)medical background but a few are involved in parents or patients advocacy groups.
Screen4Rare is a multi-stakeholder initiative aimed at highlighting the significance of neonatal screening for newborns. Through policy engagement, the group’s ultimate objective is ensuring that all babies can have equitable access to NBS.
Through these actions and thanks to its collaborations, MetabERN seek to ensure that every child born with a rare condition has the best possible start in life, with timely access to diagnosis, treatment, and care.
