A better life with a rare disease: harmonising approaches to Newborn Screening

ePAG Advocates in discussion

Early diagnosis leads to a better life for people living with a rare disease. Newborn screening is a way to provide this: families are able to plan better for their child’s care and treatment, and make informed decisions about future pregnancies. In many cases, this early intervention prevents severe disabilities from developing and can save lives.

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

For the first time, EURORDIS, alongside its Council of National Alliances, Council of European Federations and its members, have set out 11 Key Principles to support an harmonised European approach to Newborn Screening. The vast inequalities across Europe, coupled with technological and scientific advances highlight the urgent need to move forward from the status quo.

We are calling on European Union institutions and Member States to adopt these Key Principles to guarantee the human right of achieving the highest standard of health for all newborns.

Broadening the scope of screening

Traditional screening programmes in public health settings aim to identify treatable conditions where there is a cure. EURORDIS believes Newborn Screening programmes should also 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 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.

As an estimated 72% of rare diseases are of genetic origin, with 70% exclusively paediatric onset, Newborn Screening offers an unparalleled opportunity to improve the quality of life of all newborns who test positive for the rare diseases screened.

Putting systems in place

At the moment, the way in which screening programmes are developed and run vary significantly across Europe. This is why the EURORDIS Working Group on Newborn Screening has developed 11 Key Principles, establishing the scope of Newborn Screening, but also the steps that should be taken at national and European level to make it a success.

The principles make clear that Newborn Screening should be organised as a system with clearly defined roles and responsibilities, and governance and accountability structures that are transparent and robust.

Appropriate psychological, social and economic support standards for families whose newborn is screened should also be in place. Healthcare professionals should receive thorough training, and there is a need for broader public awareness. As all future citizens should be screened, everybody needs to understand the why and how of screening.

European wide standards should also be set to ensure every parent in Europe can expect the same timing, collection methods, follow-up and information when their baby is screened.

Our call for action

Responsibility for Newborn Screening programmes falls on individual countries in Europe. We call on them to consider these principles in the development and implementation of their Newborn Screening policies.

However Europe, together, has a role to play in the harmonisation of these principles to reduce the vast disparities between countries and diseases that are included in the Newborn Screening programmes. We are calling for the creation of a European Union level expert working group to coordinate this action, and for the European Institutions to endorse such initiatives.

In addition, we call on the Steering Group on Health Promotion and Prevention (SGPP), the committee that advises the European Commission on public health actions, to initiate a best practice collaboration with some Member States to pilot Newborn Screening programmes based on these principles.

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.


Jenny Steele, Communications Manager, EURORDIS

Traducteur : Trado Verso
Übersetzer: Peggy Strachan
Traductor: Conchi Casas Jorde
Traduttrice: Roberta Ruotolo
Tradutores: Ana Cláudia Jorge e Victor Ferreira
Перевод: Talkbridge

Page created: 20/01/2021
Page last updated: 20/01/2021
 
 
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