Newborn screening: help us make this fundamental right a reality

"My daughter is healthy now because of newborn screening. It shouldn't be down to where you live!" - Fabio, Italy

A harmonised approach to newborn screening across Europe is one of the pillars of our call for Europe’s action plan for rare diseases. Italy has shown great leadership in their newborn screening programme: we now need them to take this to the European Union. But we need your help!

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 support this initiative

Italy has recently introduced the most extensive newborn screening programme in Europe, aligned with the 11 Key Principles to a harmonised approach to newborn screening published earlier this year by EURORDIS-Rare Diseases Europe.

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 quality of life of all newborns who test positive for the diseases screened.

Yet, across Europe today there are significant discrepancies between the policies and programmes for Newborn Screening.

There is a window of political opportunity for Italy to promote the Italian Newborn Screening as a model of best practice on the European stage in early 2022.

However Italy needs support from across Europe to do this. By adding your name to this letter you can show that Europe’s rare disease community supports Italy in taking leadership on newborn screening. You can also use these downloadble and easy-to-use social media materials to raise awareness in your network! 

Newborn Screening holds one of the keys to a better future for people born with a rare disease in the years to come. It is up to the European Union, and its Member States, to ensure this opportunity is not missed.

Sign now

(page in Italian and English)

 

Please find the instructions on how to sign the petition below

Q&A


Newborn screening: benefits for the patient, their family and society at large

The early detection of a disease, even if there is not a cure, still leads to a better overall quality of life of the newborns and their families. Crucially, it avoids the long journey to diagnosis that is so often faced, with inconclusive tests and multiple referrals without an answer on what is wrong.

Parents can also make decisions about treatments that can prevent or slow the onset of serious symptoms, and plan strategies of care that address multiple components of living with a rare disease, facilitating access to integrated medical and social care, such as considering where to live in order to organise care for their children. For those who choose, being informed and supported in making decisions about future pregnancies is also an option.

At a societal level, it provides essential data that can be used in research to improve our understanding of rare diseases.



What needs to change in newborn screening programmes?

Traditional screening programmes in public health settings aim to identify treatable conditions where there is a cure. In its 11 Key Principles, EURORDIS advocates for Newborn Screening programmes to screen for actionable diseases, including treatable diseases. The scope, up until now, overlooks potential wider benefits Newborn Screening could have for patients, their families and society.

The vast inequalities across Europe, coupled with technological and scientific advances highlight the urgent need to move forward from the status quo.



Why are we asking Italy to take action and not the EU directly?

The “Steering Group on Health Promotion and Prevention (SGPP)” advises the European Commission on public health actions. It is composed of EU Member States’ representatives and endorses best practices deployed in EU countries in the field of health promotion and management. With the leadership of Italy, the Steering Group could initiate a best practice collaboration to pilot this programme across EU Member States. 

As Italy has the most extensive newborn screening programme in Europe, screening for approx. 50 diseases, organised as a system with clear roles and accountability, embedded into the national health care system, it is therefore an excellent model to showcase.

This would also be based on EURORDIS’ 11 Key Principles for a harmonised approach to newborn screening: European wide standards set to ensure that every parent in Europe knows the timing, collection methods, follow-up and information when their baby is screened.

One of the building blocks of Europe’s Action Plan

Reducing inequalities between EU Member States will only be achieved through structured EU collaboration. The Rare 2030 Foresight Study recommended a new policy framework for rare diseases at the European level. EURORDIS-Rare Diseases Europe, its Council of National Alliances and members are calling for this new policy framework to be introduced as Europe’s Action Plan for Rare Diseases.

Early diagnosis, and indeed newborn screening, would be crucial elements of this Action Plan, given its ability to improve the lives of people living with a rare disease and their families. An overarching framework would encourage best practice and ensure its integration across EU Member States to ultimately reduce inequalities.

Page created: 06/10/2021
Page last updated: 06/10/2021
 
 
The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseasesRare Disease International Bringing together patients, families and experts to share experiences in a moderated multi-language forum. RareConnect The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision-makers.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases