09 April 2024
5:00 pm

In March 2023, The ERN-ITHACA Teaching and Training working group provided a webinar dedicated to newborn screening across Europe. This webinar was a great success and ERN members requested that we organise another one to share more knowledge on the genomic NBS initiatives across Europe. 

With this second webinar, we will present four additional European pilot programs to extend NBS with a genomic approach. We will also present the voice of patients from Eurordis Rare Barometer. Finally, we will discuss the technical, clinical, and ethical aspects of such projects.

Chaired by Pr Laurence FAIVRE, Workgroup Teaching and Education

** Program **

Welcome and Introduction, by Pr. Laurence Faivre, Centre de Génétique, Dijon (France)

Topic 1 – Presentation of 4 European genomic NGS pilot projects in Europe

  • The New Lives German program, by Dr Nicola Dikow, Institute of Human Genetics, at Heidelberg University. (Germany)
  • The GenNatal Spanish program, by Dr. Francesc Palau Martínez, Genetic Medicine Service of the Hospital Sant Joan de Déu, Barcelona (Spain)
  • The First Steps Greek program, and its interaction with Screen4Care and BeginNGS, by Pr. Petros Tsipouras, Rady Children’s Institute for Genomic Medicine, Director Beginning Newborn Sequencing (Greece)
  • The Danish approach: Decreasing the number of false positive newborns and improving newborn screening – using genetic testing in a retrospective cohort, and further ambitions (PREDiSPOSED project), by Alberte Lundquist, PhD, Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital (Danemark)

Topic 2 – The Rare Barometer survey on the opinion of people living with a rare disease on NBS, by  Jessie Dubief, Social Research Director, EURORDIS

Discussion time 

Conclusion with speakers and moderator

Online registration HERE