Harmonised Newborn Screening in Europe - a window of opportunity that we should not miss!

A harmonised approach to newborn screening is the only way to ensure children across Europe undergo the most comprehensive screening available. Italy has shown great leadership in their newborn screening programme, aligned with our 11 Key principles. We now need you to sign our petition asking the Italian Government to promote its model across Europe to guarantee every child’s right to health!

baby's hand in adult's hand

Today in Europe, the number and delivery quality of newborn screening programmes vary drastically from one country to another, from only one or two in Latvia and Romania to 20 or more in Austria, Hungary, Spain and Italy.

Italy, in particular, has been championing the newborn screening policy in Europe, with the most extensive newborn screening programme expanded to over 50 different diseases. Framed into national legislation and organised as a system with defined roles and clear communication pathways, it is aligned with EURORDIS’ 11 Key principles for newborn screening, offering a wide range of support to families, from early diagnosis to managing various treatable congenital diseases.

“Dr Gasperini came out and said that they had saved Sara's life. In Mantua, they were screening for Isovaleric Aciduria for four months... four months... I am so grateful! I am grateful for what you have done, and for what you are doing because you have saved a life... and what a life! Because my daughter, Sara, is wonderful” - Fabio, Italy

Newborns' chances of being diagnosed should not depend on where they are born!

We have a window of political opportunity to promote the Italian Newborn Screening as a model of best practice on the European stage in early 2022. However, we need support from across Europe to do this.

What can you do?

We are calling upon European citizens to join our call to the Italian Health Minister to put forward their best practice newborn screening programme on the European agenda, to be replicated across the EU.

Add your name to our letter to Italy’s Minister of Health to

  • Emphasise the relevance of newborn screening for the whole rare disease community and for all newborns in Europe.
  • Show your support to Italy in taking leadership on newborn screening.
  • Advocate for a newborn screening model that is aligned with the 11 Key Principles for uptake or inspiration in other European Union countries.
  • Help bring back the debate on newborn screening at the EU level and make it a priority.

You can also share these downloadable and easy-to-use materials to raise awareness of the initiative on social media.

“We need increased collaboration, dialogue between stakeholders and more discussions on Newborn Screening for the well-being of newborns and their families,” says Gulcin Gumus, EURORDIS’ Research and Policy Project Manager.

Why is newborn screening a priority?

a) As an estimated 72% of rare diseases are of genetic origin, and 70% with exclusively paediatric onset, newborn screening offers an unparalleled opportunity to improve the prognosis of the disease and the quality of life of children, helping parents to make informed decisions about treatments that can prevent or slow the onset of serious symptoms and facilitate access to integrated medical and social care.

b) Notwithstanding its clear benefits, there is no consensus on equal access and availability of screening programmes in Europe.

c) A harmonised approach to newborn screening across Europe is one of the pillars of our call for Europe’s action plan for rare diseases, given its ability to improve the lives of people living with a rare disease and their families. Such an overarching framework would encourage best practices and ensure its integration across all EU Member States to ultimately reduce inequalities.

 


Stanislav Ostapenko, Communications Manager, EURORDIS

Page created: 12/10/2021
Page last updated: 13/10/2021
 
 
La voix des patients atteints de maladies rares en EuropeEURORDIS Donnant la voix, à l'international, aux personnes vivant avec une maladie rareRare Disease International Pour rapprocher patients, familles et experts sur un forum modéré multilingue, où partager leurs expériences. RareConnect Le programme Rare Barometer est une initiative d’EURORDIS qui vise à réaliser des sondages pour transformer les expériences des patients de maladie rare en faits et chiffres à communiquer aux décideurs politiques.Rare Barometer Campagne internationale de sensibilisation organisée chaque année le dernier jour de février, la Journée Internationale des Maladies Rares est une initiative d'EURORDISRare Disease Day Participez au plus grand événement réunissant tous les acteurs des maladies rares en Europe lors de Conférence européenne bisannuelle sur les maladies rares et les médicaments orphelins (European Conference on Rare Diseases and Orphan Products, ou ECRD). L'ECRD est une initiative d'EURORDISEuropean Conference on Rare Diseases