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.  

We start in...



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.



09:00 - 09:15

Introductory part

Welcome: Janez Poklukar, Minister for Health, Slovenia


Setting the scene: Tadej Battelino, Head of Department of Endocrinology, Diabetes and Metabolism, University Children’s Hospital, University Medical Centre Ljubljana



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, President, International Society for Neonatal Screening (ISNS)

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    

10:12 Stakeholders’ contribution:

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

Johan Prevot, Executive Director, International Patient Organisation for Primary Immunodeficiencies (IPOPI)

The views of people living with rare diseases and their families: 11 key principles

Yann Le Cam, Chief Executive Officer, EURORDIS - Rare Diseases Europe    

The role of ERNs in NBS

Maurizio Scarpa, MetabERN Coordinator


NBS, a EU matter

Manuel Pizarro, Member of the European Parliament


10:32 - 10:45 Break 


10:45 Panel discussion: How to improve coordination and uptake of newborn screening across EU as part of enhanced screening policy

Above speakers: Member states representatives and Stakeholders’ representatives

Kateřina Konečná, Member of the European Parliament

Mirjam van den Burg, Leiden University Medical Center   

Eugenie Dekkers, Program manager, Dutch Neonatal Screening Program Centre for Population Screening, Dutch institute for Public Health and the Environment 


Johan Prevot, Executive Director, International Patient Organisation for Primary Immunodeficiencies (IPOPI)

Peter Schielen, Office Manager, International Society for Neonatal Screening (ISNS)


11:30 Debate with audience

Moderator: James Bonham, President, International Society for Neonatal Screening (ISNS)  

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

Moderator: James Bonham, President, International Society for Neonatal Screening (ISNS)

Closing remarks

James Bonhham, President, International Society for Neonatal Screening (ISNS)  

12:00 - 13:00 Break


13:00 - 16:00

Familial hypercholesterolemia screening - current gaps and the need for action

13:00 Setting the scene: FH and screening

Two patients´ stories: the impact of FH and why paediatric screening matters

Véronique Schaal and Charlotte Lemaitre     

Welcome: FH Europe

The unmet needs of patients with FH in Europe   

Magdalena Daccord, Chief Executive, FH Europe

13:18 Welcome: Time for digital transformation and implications for FH paediatric screening

Mark Boris Andrijanič, Minister for Digital Transformation, Slovenia 

13:23 The wider context: CVD landscape in EU and the need for innovation

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

Dr Marianne Takki, Doctor of Public Health, Policy Coordinator, DG Sante, European Commission

Birgit Beger, CEO of EHN, Member of the   of the European Alliance for Cardiovascular Health

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


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

13:43 FH paediatric screening - a Global perspective

Global Call to Action on FH  - the screening recommendation  

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

Global FH Registry - the paediatric data as evidence 

Kanika I. Dharmayat, EAS FH Studies Collaboration


14:00 - 14:15 Break

14:15  FH Screening programmes in the EU: current state of play

Overview of FH screening programs across the EU    

Asst. Prof. Urh Grošelj  

Focus on national experiences/best practices:

Slovenia - Prof. Urh Grošelj  

Netherlands - Prof. Albert Wiegman

Czech Republic   - Prof. Tomas Freiberger 

France - Prof. Noel Peretti  

Action Plan on pediatric FH screening in EU 

Prof. Albert Wiegman, Scientific Advisor, FH Europe  

14:53 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

Prof. Martin Halle, President, European Association of Preventive Cardiology (ESC)  

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

Patient representative


Prof. Lale Tokgözoğlu, Past President, European Atherosclerosis Society        

15:23 Next steps: How to move forward with the Action Plan on FH screening in Europe? - a policy response  

Dr Mojca Gobec, Head of the Sector for Disease and Injury Prevention at the Public Health Directorate, Slovenian Ministry of Health, Slovenian Presidency of the EU Council

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

Hélène Le Borgne, DG Research and Innovation, European Commission

John Reeve, President, FH Europe

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


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 - 16:00

Closing remarks of the whole meeting

Tadej Battelino, Head of Department of Endocrinology, Diabetes and Metabolism, University Children’s Hospital, University Medical Centre Ljubljana

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].

This event is endorsed by: University Medical Centre Ljubljana, Faculty of Medicine - University of Ljubljana, EURORDIS - Rare Diseases Europe, FH Europe - The European FH Patient Network, International Patient Organisation for Primary Immunodeficiencies (IPOPI), International Society for Neonatal Screening (ISNS), Amsterdam UMC, Centre for Innovation in Medicine, Emma kinderziekenhuis Amsterdam UMC, European Alliance for Cardiovascular Health (European Society of Cardiology, European Heart Network, MedTech Europe, International Association of Mutual Benefit Societies, European Trade Association representing the medical imaging, radiotherapy, health ICT and electromedical industries, European Chronic Disease Alliance, European Federation of Pharmaceutical Industries Associations, European Kidney Health Alliance, European Confederation of Pharmaceuticals Entrepreneurs, Stroke Alliance for Europe, European Stroke Organisation, European Congenital Heart Disease Organisation), European Atherosclerosis Society (EAS), European Atherosclerosis Society - FH Studies Collaboration (EAS - FHSC), European Reference Network for Hereditary Metabolic Disorders (MetabERN), European Reference Network on immunodeficiency, autoinflammatory and autoimmune diseases (ERN RITA), European Society for Immunodeficiencies (ESID)Global Heart Hub, International Atherosclerosis Society (IAS),  Screen4Rare, Slovenian Heart Foundation, World Heart Federation (WHF), Association Nationale des Hypercholestérolémies Familiales, Diagnóza FH, Česká společnost pro aterosklerózu, Slovenská asociácia aterosklerózy, Stichting LEEFH.

Endorsing organisations
Endorsing organizations - Part I
Endorsing organizations - Part II
Endorsing organizations - part III

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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