The Role of the EHR in Newborn Sequencing Projects

Presenter: Brooke Greenstein

FirstSteps: The newborn genome initiative in Greece

Presenter: Dr Petros Tsipouras

The Screen4Care project: defining genetic newborn screening operational pipeline and ethical issues to run a large genomic screening pilot study in EU countries

Presenter: Dr Alessandra Ferlini

The Clinician-reported Genetic testing Utility InDEx for Newborn Screening (C-GUIDE NBSeq): Development and content validity

Presenter: Dr Salma Shickh

Psychosocial impact analysis in PERIGENOMED: example of a mixed design developed through collective intelligence

Presenter: Camille Level

Phenotype Associations from a Comprehensive Database of Long-Chain Fatty Acid Oxidation Disorder Gene Variants

Presenter: Dr Nicole Miller

A collaborative working group of experts to define the list of diseases to be screened in the French genomic newborn screening project PERIGENOMED

Presenter: Dr Laurence Faivre

Parental Perspectives on the Implications of Expanded and Universal Newborn Screening

Presenter: Nicole Kelly

NGS-technologies in the Dutch newborn bloodspot screening “CRADLE-Study” – ICoNS’24

Presenter: Els Voorhoeve

Newborn sequencing using comprehensive genome analysis across racial and ethnic groups: Results from the BabySeq Project

Presenter: Rose Heald

Infants with carrier status in BabySeq and Comparison to other Carrier Screening

Presenter: Dr José Manuel González de Aledo Castillo

Implementing BeginNGS using prequalified genomic newborn screening analyses: lessons learned from retrospective and exploratory prospective studies

Presenter: Dr Meredith Wright

Genome Screening of Newborns: what can we find and what’s next?

Presenter: Dr Jorune Balciuniene

GEN SEQ TRAIL: Genomic Newborn Sequencing: Therapy Ready And Information for Life (TRAIL)

Presenter: Shelley Pirreca

From Feasibility to Framework: Advancing Genomic Newborn Screening through Technical Feasibility and Ethical Considerations in Germany

Presenter: Dr Heiko Brennenstuhl

Exploring the feasibility, acceptability and impact of genomic newborn screening for rare diseases in England: A Process and Impact Evaluation of the Generation Study

Presenter: Dr James Buchanan

Ethical Challenges in Newborn Genomic Sequencing: Assessing Investigators’ Perspectives

Presenter: Dr Hadley Stevens Smith

digitalMLPA complements sequence analysis with the detection of CNVs, complex regions, F8 inversions and methylation changes in Fragile X and imprinting disorders

Presenter: Dr Joery den Hoed

Development and analytical validity assessment of bioinformatics solution for genomic newborn screening in the Generation Study

Presenter: Dr Dalia Kasperaviciute

Design, implementation and validation of a genetic newborn screening study for multiple rare diseases: the "Genoma-Puglia" project

Presenter: Dr Mattia Gentile

Assessing Family Outcomes of Newborn Screening

Presenter: Dr Don Bailey

Patient-Driven Partnership: Developing a Gene Panel for Actionable Conditions for Newborn Screening Using a Collaborative Approach

Presenter: Dr Gulcin Gumus

Blockchain-Enabled Family Vaults: A Global and Enduring Framework for Newborn Genomic Data Governance

Presenter: Daniel Uribe