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 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)
- The GenNatal Spanish program, by Dr. Francesc Palau Martínez, Genetic Medicine Service of the Hospital Sant Joan de Déu, Barcelona (Spain)
- The New Lives German program, by Dr Nicola Dikow, Institute of Human Genetics, at Heidelberg University. (Germany)
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
Webinar recordings
Main recording starting from talk #3
Full recording of Dr. Alberte Lundquist’s talk on 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):
You can dowload HERE the webinar’s entire powerpoint.