Oct

23

Parental Preferences for Information on Newborn Screening: Insights from a National Survey in France

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Laurence Faivre

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The development and validation of the Clinician-reported Genetic testing Utility InDEx for Newborn Screening (C-GUIDE NBS): An international initiative

Oct

23

The development and validation of the Clinician-reported Genetic testing Utility InDEx for Newborn Screening (C-GUIDE NBS): An international initiative

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Robin Z. Hayeems

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Key stakeholders’ perspectives on genomic newborn screening implementation models

Oct

23

Key stakeholders’ perspectives on genomic newborn screening implementation models

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Hadley Stevens Smith

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Evaluating the Added Value of Whole Genome Sequencing over Exome Sequencing in Genomic Newborn Screening

Oct

23

Evaluating the Added Value of Whole Genome Sequencing over Exome Sequencing in Genomic Newborn Screening

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Jose Manuel Gonzalez de Aledo Castillo

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Genomic newborn screening study for multiple rare diseases in Puglia: review of the first year of the “Genoma Puglia” project.

Oct

23

Genomic newborn screening study for multiple rare diseases in Puglia: review of the first year of the “Genoma Puglia” project.

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Paola Orsini

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Screen4Care EU-IHI project and genomic newborn screening running results using TREAT panel in a large European cohort: update about recruitment, baby’s enrollment and samples running

Oct

23

Screen4Care EU-IHI project and genomic newborn screening running results using TREAT panel in a large European cohort: update about recruitment, baby’s enrollment and samples running

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Alessandra Ferlini

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Massively parallel biochemical annotation of all possible missense variants in ARSA and beyond

Oct

23

Massively parallel biochemical annotation of all possible missense variants in ARSA and beyond

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Michael Gelb

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The ‘Lifetime Genome’ – Findings from Genomics England’s Public Standing Group

Oct

23

The ‘Lifetime Genome’ – Findings from Genomics England’s Public Standing Group

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Harriet Etheredge

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Costing Informed Consent at Scale: Lessons from ScreenPlus for Genomic NBS

Oct

23

Costing Informed Consent at Scale: Lessons from ScreenPlus for Genomic NBS

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Nicole Kelly

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Top 10 lessons learned since launch of the GUARDIAN expanded newborn screening (NBS) study

Oct

23

Top 10 lessons learned since launch of the GUARDIAN expanded newborn screening (NBS) study 

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Brenna Boyd

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The CANGUR project: A Consensus Roadmap for Pediatric Cancer Susceptibility Genes in Newborn Screening

Oct

23

The CANGUR project: A Consensus Roadmap for Pediatric Cancer Susceptibility Genes in Newborn Screening

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Estela Carrasco

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Eliciting public priorities for genomic newborn screening using Best-Worst Scaling

Oct

23

Eliciting public priorities for genomic newborn screening using Best-Worst Scaling

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Amber Salisbury

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Genomic Landscape of Metabolic and Immunologic Rare Diseases in Korean Pediatric Patients

Oct

23

Genomic Landscape of Metabolic and Immunologic Rare Diseases in Korean Pediatric Patients

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Sung-Mi Shim

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Targeted next-generation sequencing as a second-tier test in newborn screening for severe combined immunodeficiency to reduce secondary findings

Oct

23

Targeted next-generation sequencing as a second-tier test in newborn screening for severe combined immunodeficiency to reduce secondary findings

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Annelotte Duintjer

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A multi-stakeholder perspective on genomic sequencing in newborn screening: how should we proceed?

Oct

23

A multi-stakeholder perspective on genomic sequencing in newborn screening: how should we proceed?

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Saskia G Smits

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Implementing a Genomic Newborn Screening Scoping Study for Duchenne Muscular Dystrophy: Insights from the TRAIL Study

Oct

23

Implementing a Genomic Newborn Screening Scoping Study for Duchenne Muscular Dystrophy: Insights from the TRAIL Study

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Sarah Shin

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Rapid Whole Genome Sequencing in Critically Ill Neonates with Suspected Genetic Disorder in Korea

Oct

23

Rapid Whole Genome Sequencing in Critically Ill Neonates with Suspected Genetic Disorder in Korea

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Mi-Hyun Park

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High specificity of short-read genome sequencing technology for detecting SMN1-SMA within a large population cohort

Oct

23

High specificity of short-read genome sequencing technology for detecting SMN1-SMA within a large population cohort

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Timothy S Hall

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Newborn Screening for Primary Carnitine Deficiency in Sweden - Evaluation of genetic 2nd tier analysis

Oct

23

Newborn Screening for Primary Carnitine Deficiency in Sweden - Evaluation of genetic 2nd tier analysis

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Veroniqa Lundbäck

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Rare Disease-Target Gene Treatment Knowledge Mining – Partnership between Rancho BioSciences (Rancho) and Rady Children’s Institute for Genomic Medicine (RCIGM)

Oct

23

Rare Disease-Target Gene Treatment Knowledge Mining – Partnership between Rancho BioSciences (Rancho) and Rady Children’s Institute for Genomic Medicine (RCIGM)

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Christine Marciniak

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A tool for implementers of genomic sequencing for newborn screening to navigate ethical, legal and social issues

Oct

23

A tool for implementers of genomic sequencing for newborn screening to navigate ethical, legal and social issues

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Anna Lewis

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The INFANT study - steps towards a Canadian genomic newborn screen

Oct

23

The INFANT study - steps towards a Canadian genomic newborn screen

Thursday, October 23, 2025
5:00 PM 6:30 PM
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Presenting Author: Neal Sondheimer

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