Newborn screening (NBS) is a comprehensive system that includes various elements such as testing the newborn, diagnosis, communication of information to parents, follow-up care and storage of samples for secondary use.
NBS is important to people living with a rare disease and their families because for approximately 70% of rare diseases the onset occurs during childhood, but for many diseases clinical signs of symptoms do not appear in the first days or months following birth.
Conditions that newborns are screened for in NBS programmes include some rare diseases where early intervention can prevent the onset of disease symptoms or delay disease progression, improving the quality of life of the newborn, deriving a benefit for the patients, their families and society.
Recent and continued scientific and technological advancements have opened up the discussion on the expansion of NBS programmes to include rare diseases that could be screened using new sequencing techniques.
Different countries have advanced at different rates on their NBS programmes. The number of conditions included in national newborn screening programmes varies per country. For example, newborn screening in Ireland includes 8 conditions (reference), in UK 11 conditions (reference), in Germany 17 conditions (reference), and in the Netherlands 22 conditions(reference).
Advocating for harmonised criteria and adequate policies for newborn screening
Although in some Member States, the new and expanded NBS programmes include screening for a wider range of conditions, there is little agreement on which diseases should be included in national screening programmes.
Variations in the NBS practices developed in the 1960s among European countries highlight the need for collaboration and common uptake of NBS criteria for including new diseases in the newborn screening programmes across Member States. Having a uniformed approach among all Member States is of particular importance to improve the lives of babies born with a rare disease and their families.
EURORDIS advocates for the harmonisation of criteria and adequate policies for newborn screening in every EU Member State.
Last year, with input from the EURORDIS NBS Working Group and rare disease national alliances/ European Federations, we published a series of principles for harmonious uptake/adoption of NBS programmes across Member States with a view to delivering maximum benefit and improving outcomes for babies born with rare diseases.
In 2020, EURORDIS also held a EURORDIS Round Table of Companies workshop on NBS. Read the workshop concept paper to understand the Newborn Screening decision-making processes and gain insight about diverse national approaches.
EURORDIS Newborn Screening Working Group
The EURORDIS Newborn Screening Working Group (NBS-WG) was set up to review current policy and practice in the field of NBS, in order to develop principles for harmonious uptake/adoption of the NBS programs across Member States with a view to delivering maximum benefit and improving outcomes for babies born with rare diseases.
The 20+ members of the NBS-WG include representatives from patient organisations, international screening societies and international and national federations with a focus on NBS:
|Bojana Mirosavljevic||Life Organisation- Zivot||Serbia|
|Claas Rohl||NF Kinder – Verein zur Förderung der Neurofibromatoseforschung Österreich||Austria|
|Cor Oosterwijk||VSOP||The Netherlands|
|Dorota Zgodka||FH Europe||Switzerland|
|Fiona Ulph||ESHG/ University of Manchester||UK|
|Laetitia Ouillade||SMA Europe||France|
|Lora Ruth Wogu||European Sickle Cell Federation||Ireland|
|Magdalena Daccord||FH Europe||Austria|
|Mark Turner||University of Liverpool||United Kingdom|
|Martina Cornel||Amsterdam UMC||The Netherlands|
|Nejc Jelen||Viljem Julijan Association||Slovenia|
|Nick Meade||Genetic Alliance UK||United Kingdom|
|Rene Brectan||Rare Diseases Czech Republic||Czech Republic|
|Simon Wilde||Genomics England||United Kingdom|
|Taruscio Domenica||Istituto Superiore di Sanità||Italy|
|Urh Groselj||FH Europe||Slovenia|
|Vera Frankova||Charles University||Czech Republic|
|Vigdis Stefansdottir||ESHG /University of Iceland||Iceland|
- Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: WHO; 1968. Available from: http://www.who.int/bulletin/volumes/86/4/07-050112BP.pdf