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
 
 
Голос пациентов с редкими заболеваниями в Европе The voice of rare disease patients in EuropeEURORDIS Сеть организаций, представляющих интересы пациентов с редкими заболеваниями их разных стран мираRare Disease International Социальная сеть RareConnect предоставляет пациентам, их семьям и специалистам многоязычную платформу для обмена информацией и опытом RareConnect Программа Rare Barometer — это инициатива EURORDIS, направленная на проведение исследований по преобразованию опыта пациентов с редкими заболеваниями в цифры и факты, которыми можно поделиться с ответственными руководителями. Rare Barometer День больных редкими заболеваниями – международная кампания по привлечению внимания к проблеме редких заболеваний, которая по инициативе EURORDIS ежегодно проводится в последний день февраляRare Disease Day Приняв участие в Европейской конференции по редким заболеваниям и орфанным препаратам (EUCERD), которая по инициативе EURORDIS проводится каждые два года, вы получите возможность побывать на самом представительном европейском форуме по проблемам редких заболеваний.European Conference on Rare Diseases