ICoNS Gene List Subcommittee
Presenters: Dr Lilian Downie (BabyScreen+) & Dr Nina Gold (MassGeneral Hospital)
An update on progress by ICoNS Gene List Subcommittee.
ICoNS Economics Subcommittee
Presenter: Dr Hadley Smith (Harvard Pilgrim) & Dr James Buchanan (Queen Mary Univ.)
Update on progress by the ICoNS Economics Subcommittee
ICoNS Data Sharing Subcommittee
Dr Nidhi Shah, Dartmouth Univ. Medical, ICoNS
Update on progress by the ICoNS Data Sharing Subcommittee
ICoNS Policy Subcommittee
Presenter: Nicolas Encina (ICoNS), Dr Petros Tsipouras (FirstSteps), Dr Tom Brewster (MaineHealth)
Update on progress by the ICoNS Policy Subcommittee
Top Abstract
Presenter: Dr Richard Parad, Brigham and Women's Hospital
Genomic Newborn Screening for Variants in Cancer Predisposition Syndrome Genes Associated with Increased Risk for Developing Early Onset Childhood Cancers: A Retrospective Approach to Developing Evidence-Based Gene Lists
Top Abstract
Presenter: Heidi Cope, RTI International
Multiplexed Screening for Monogenic Conditions and Type 1 Diabetes Risk Using Genome Sequencing: The Early Check Experience
Top Abstract
Presenter: Dr François Boemer, BabyDetect
Population-based first-tier genomic newborn screening: 18-months results review of BabyDetect project
Top Abstract
Presenter: Dr Ulrik Stoltze, PREDISPOSED
The PREDiSPOSED Project: Ultralow-cost Rare DNA Variant Detection in Large Groups Using Combinatorial Pooling
Top Abstract
Presenter: Dr Sebastian Lunke, BabyScreen+
The First 500: Insights Into Challenges Of Delivery, Automation And Variant Interpretation At The Halfway Mark Of The BabyScreen+ Study
Top Abstract
Presenter: Dr Wendy Chung, GUARDIAN Study
Expanded Newborn Screening Using Genome Sequencing For Early Actionable Conditions: results for the first 10,000 participants enrolled in the GUARDIAN study
Top Abstract
Presenter: Dr Lilian Downie, BabyScreen+
Scalable informed consent using an online platform, Genetics Adviser. Results from the first 500 families in BabyScreen+
Panel: VUS. Equity & Accuracy
Moderator: Dr Melissa Wasserstein, ScreenPlus
Panelists: Dr Sri Raj, Dr Vaidehi Jobanputra, Dr Aaron Goldenberg
Newborn Sequencing: Navigating Societal Context and Healthcare Innovation
Presenter: Amy Gaviglio, CDC
Newborn Sequencing: Navigating Societal Context and Healthcare Innovation
Keynote Presentation
Presenter: Dr Michele Caggana, New York State Department of Health
A Partnership to Expand and Enhance Newborn Screening in New York State -- The GUARDIAN Study
Closing Remarks
Nicolas Encina, Exec. Director ICoNS, Director of Strategy Precision Population Health, Ariadne Labs, Harvard School of Public Health
Closing Remarks