Technical meeting on 

Achieving Equity and Innovation in Newborn Screening and in Familial Hypercholesterolemia Paediatric Screening across Europe    

  An accompanying event of the Slovenian Presidency of the Council of the European Union 2021  

  

11th October 2021

09:00 - 16:00 CET

Virtual event

About the event

For some rare disorders, the early detection offered by newborn screening (NBS) can be life changing and is able to prevent long term disability or even death.  

Following the first expansion of the NBS program in 2018, Slovenia is currently planning a further expansion of NBS to detect spinal muscular atrophy, severe congenital immune disorders (18 in all), cystic fibrosis and congenital adrenal hyperplasia; in total, over 40 congenital diseases. Due to significant technological developments in the last few years, expanded newborn screening has also become more accessible and has been introduced in several EU countries. It is likely that, in the future with a growing range of therapeutic possibilities, the need for further expansion of the NBS programme will increase markedly. The increasing use of genomics in this area is also likely with a broad range of societal, professional, and ethical implications.  

Despite this progress, the current situation regarding the NBS in the EU is rather inequitable with significant differences between individual member states. Over ten years ago, the Council of the EU and later the former Committee of Experts on rare diseases recommended coordinated action at the EU level while preserving national competences in order to improve the current situation.  

To help achieve equity and ensure that good practice becomes common practice, collaborative actions  or activities which can benefit from gathering of expertise at EU level should be explored. In particular, a dedicated expert forum needs to be established in the EU to bring together policy makers, patient group representatives and professionals able to share experience, explore the options and offer impartial advice. The European Reference Networks for Rare Diseases (ERNs) provide a natural framework from which to assemble and support a constructive and expert group.

Familial Hypercholesterolemia (FH) is the most common inherited life-threatening disorder and a non-modifiable CVD risk factor. This most common genetic condition in the world is severely underdiagnosed and undertreated, leading to premature morbidity and mortality due to atherosclerotic cardiovascular disease. It affects 1 in 250 to 300 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. In 1998 during a consultation meeting in Geneva, Switzerland, the World Health Organization recognized FH as a public health priority. Little has however changed over the past 20 years to improve the situation of families affected by FH. Majority of children identified today are non-index cases, meaning their identification is the result of their family member being previously diagnosed, often as a consequence of a heart attack, stroke or death of one of the parents.

Slovenia has been a model country for familial hypercholesterolemia (FH) paediatric screening, alongside NBS, with an effective approach to detect this globally severely underdiagnosed inherited disorder. Recently, the Slovenian programme was identified as one of the “Best Practices” by the European Commission, and the WHF White Paper on Cholesterol recognized it as a possible model for FH-screening and potentially a model for NBS in general.  

Under its EU presidency, Slovenia is spearheading an initiative designed to enhance cooperation and equity in provision of newborn and FH paediatric screening within the EU. Several differing models of care can be recognized within the individual EU countries. As part of this, there will be some focus on the Western Balkans region where NBS programs are less developed.

We would therefore like to invite relevant stakeholders to engage in this technical meeting to share experience and explore potential future strategy. Key participants include policy makers at EU and national levels; patient organizations; representatives of the main professional organizations; regulators and HTA agencies.  

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Objectives

To identify good practice in the field of NBS in the EU.  

To define the main gaps and to discuss outlines to improve the equity of provision in the field of NBS in the EU.

To identify best practices in the field of FH paediatric screening and how they could be replicated and taken to scale.

To assess the fundamental challenges, barriers, and opportunities to achieve equity of access to FH screening across Europe.  

To explore and agree on next steps to ensure a systematic and comprehensive approach to screening in Europe that leaves no-one behind.

Agenda

INTRO

09:00 - 09:15

Introductory part

Welcome: Janez Poklukar, Minister for Health, Slovenia 

 

Opening Statement: Senior representative of a European Union Institution or Senior representative of the Slovenian Ministry of Health  

 

Setting the scene: Tadej Battelino, University Medical Centre Ljubljana  

PART I

09:15 - 13:00

Newborn screening - towards equity of provision in the European Union

9:15 An overview of the current state and future of NBS in the EU on behalf of the ISNS

James Bonham

9:30 Focus on national experiences/best practices:

Italy - Giancarlo la Marca

France - David Cheillan    

Slovenia - Urh Grošelj  

Germany - Stefan Koelker 

Sweden - Rolf Zetterstrom

Czech Republic - Viktor Kožich

Southeastern Europe/ Western Balkans - Urh Grošelj    

10:10 Stakeholders’ contribution:

How the European Commission can support EU-wide collaboration? 

Screen4rare: an EU joint stakeholder initiative on Neonatal Screening (ISNS-IPOPI-ESID joint initiative) - Johan Prevot  

The views of people living with rare diseases and their families: 11 key principles - Yann Le Cam (EURORDIS)  

The role of ERNs in NBS - Maurizio Scarpa (MetabERN)  

NBS, a EU matter - Member of the European Parliament    

10:45 - 11:00 Break 

   

11:00 Panel discussion - Speakers & Member States Representatives: How to improve coordination and uptake of newborn screening across EU as part of enhanced screening policy.    

11:30 Debate with audience    

11:50 WRAPPING-UP PART ONE - Towards equity of provision of NBS across Europe

Closing remarks

James Bonhham

12:00 - 13:00 Break

PART II

13:00 - 16:00

Familial hypercholesterolemia screening - current gaps and the need for action

13:00 Patient story: My life with FH and why paediatric screening matters

Patient Advocate

13:10 Welcome: FH Europe   

Magdalena Daccord, Chief Executive, FH Europe

13:14 Welcome: Time for digital transformation and implications for FH paediatric screening

Mark Boris Andrijanič, Minister for Digital Transformation, Slovenia 

13:19 The wider context: CVD landscape in EU and the need for innovation

Maria da Graça Carvalho MEP, Co-Chair of MEP Heart Group

Representative of the European Alliance for Cardiovascular Health

Dr Marius Geanta, Trustee, FH Europe and President, Centre for Innovation in Medicine  

Moderator:  Nicola Bedlington,  Senior Advisor FH Europe, Former Secretary General of the European Patients’ Forum  

13:34 FH Europe: The unmet needs of patients with FH in Europe

Magdalena Daccord, Chief Executive, FH Europe

 

13:42 FH screening - the Global Call to Action Recommendations

Prof. Samuel S. Gidding, Senior Author of the Global Call to Action on FH, Scientific Committee Member,  World Heart Federation, Trustee FH Europe

13:52 Global FH Registry - the paediatric data as evidence 

Kanika I. Dharmayat, EAS FH Studies Collaboration

   

14:00 - 14:15 Break

14:15 Brief overview: Current FH screening programs in the EU 

Urh Grošelj, Scientific Advisor, FH Europe  

14:23 Focus on national experiences/best practices:

Slovenia - Prof. Urh Grošelj  

Netherlands - Prof. Albert Wiegman

Czechia - Prof. Tomas Freiberger 

France - Prof. Noel Peretti  

14:47 Action Plan on pediatric FH screening in EU 

Prof. Albert Wiegman, Scientific Advisor, FH Europe  

14:55 Towards a Consensus on FH screening in Europe - A dialogue with key stakeholders  

Prof. Kausik Ray, President, European Atherosclerosis Society

Prof. Raul Santos, President, International Atherosclerosis Society

Prof. Fausto Pinto, President World Heart Federation

Dr. Iñaki Gutiérrez-Ibarluzea, Member of Technical Advisory Group, World Health Organization, Past President, HTAi

Representatives of ESC and FH Europe

Moderator:  Prof. Lale Tokgözoğlu, Past President, European Atherosclerosis Society        

15:20 Next steps: How to move forward with the Action Plan on FH screening in Europe? - a policy response  

Cristian-Silviu Buşoi, MEP and Chair, Industry, Research and Energy (ITRE) Committee

Hélène Le Borgne DG RESEARCH, European Commission

Representative of the European Commission,  DG Sante

Representative of the Slovenian Presidency of the Council

Representative of the French Presidency of the Council

John Reeve, President, FH Europe

Moderator:  Nicola Bedlington,  Senior Advisor FH Europe, Former Secretary General of the European Patients’ Forum

15:50 Closing remarks

John Reeve, Chair of the Board, FH Europe

15:55 Closing remarks of the whole meeting

Senior representative of the Slovenian Ministry of Health

Organizing committee

Local Organizing Committee: Urh Grošelj, MD, PhD, chair; Jaka Šikonja; Tadej Battelino, MD, PhD; University Children's Hospital, UMC Ljubljana; Matej Trpin; Republic of Slovenia, Ministry of Health.  

 

International Organizing Committee: James Bonham (ISNS), Magdalena Daccord (FH Europe), Yordan Aleksandrov (Screen4Rare Secretariat), Tadej Avčin (IPOPI), Nicola Bedlington (FH Europe), Simone Bosselli (EURORDIS), Valentina Bottarelli (EURORDIS), Tomas Freiberger (FH Europe), Marius Geanta (FH Europe), Samuel S. Gidding (FH Europe), Gulcin Gumus (EURORDIS), Corine van Lingen (MetabERN), Isabelle Meyts (ESID), Antoni Montserrat Moliner (ALAN), Elliot Tricot O'Farrell (Screen4Rare Secretariat), Martine Pergent (IPOPI), Johan Prevot (IPOPI), Maurizio Scarpa (MetabERN), Peter Schielen (ISNS), Albert Wiegman (FH Europe).

Do you have questions regarding the event? Contact us via [email protected].

Endorsing organisations
Endorsing organizations - Part I
Endorsing organizations - Part II

Achieving equity and innovation in newborn screening and in familial hypercholesterolemia paediatric screening across Europe is an accompanying event of the Slovenian Presidency of the Council of the European Union 2021.

The opinions expressed at the event do not reflect the view of the Slovenian Presidency of the Council of the EU 2021.

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