DAY 1 — MORNING SESSION

Genomic newborn sequencing gene and variant curation workshop

Presenters:

1. (Moderator) Lilian Downie, Victorian Clinical Genetics Service - PanelApp Australia training session

2. Jessica Hunter, University of North Carolina - Gene-disease validity and actionability - the work of ClinGen

3. Emma Baple, Royal Devon University Healthcare NHS Foundation Trust, - curation moderator

4. Katrina Stone, St George's University Hospitals NHS Foundation Trust - curation moderator

5. Sebastian Lunke, Victorian Clinical Genetics Service - Variant curation in the genomic newborn sequencing context

DAY 1 — AFTERNOON SESSION

Scaling Genomic Newborn Screening: International Strategies and Service Delivery Innovations

Presenters:

1. (Moderator) Yvonne Bombard, University of Toronto Unity Health Toronto - Implementing genomic newborn screening: opportunities and challenges in delivering gNBS at scale

2. Lilian Downie, BabyScreen+, Victorian Clinical Genetics Service, Murdoch Children’s Research Institute - Supporting parental decisions about genomic newborn screening at scale in the digital age: experience from the BabyScreen+ study

3. Saquib Lakhani, Early Detection Program, Cedars-Sinai Medical Center - Starting from Scratch: Key considerations in building a scalable multi-disciplinary gNBS program

4. Amanda Pichini, Generation Study, Genomics England - The Generation Study – implementing genomic newborn screening in a national public health context

5. Liz Jalazo, Early Check, RTI - Building the Bridge: Scalable Digital Infrastructure for Returning Newborn Genomic Sequencing Results

DAY 1 — PLATFORM PRESENTATION, AFTERNOON

Learning from the Field: Concrete Lessons from Pilot Projects on Genomic Newborn Screening

1. (Moderator) Laurence Faivre, CHU Dijon France

2. Robert Green, Harvard Medical School - Lessons learned from BabySeq

3. Wendy Chung, Boston Children’s Hospital - Lessons learned from GUARDIAN

4. David Bick, Genomics England - Lessons learned from Generation Study

5. Sebastian Lunke, The Royal Children’s Hospital - Lessons learned from BabyScreen

6. Laurent Servais, CHU Liège - Lessons learned from BabyDetect

DAY 2 — MORNING SESSION

Valuing genomic newborn sequencing: an educational session for non health economists

Presenters:

1. (Moderator) James Buchanan, Queen Mary University of London, - Challenges when estimating value in the context of genomic newborn sequencing

2. Martin Vu, Queen Mary University of London - An introduction to economic evaluation for non health economists

3. Miranda Bailey, Rocket Pharmaceuticals - Current evidence on the value of genomics

4. Hadley Stevens Smith, Harvard University - Determining value when an intervention impacts multiple conditions simultaneously: An example from the BabySeq Project

5. Aditi Satija, Genomics England - Determining value when an intervention impacts multiple conditions simultaneously: An example from the Generation Study

DAY 2 — AFTERNOON SESSION

Public health impacts of genomic newborn sequencing

Presenters:

1. (Moderator) Emma Baple, University of Exeter

2. Dr. Anne Mackie, UK National Screening Committee - Public health considerations in population screening – a UK perspective

3. Prof. Martina Cornel, Amsterdam University Medical Center, Netherlands Health Council (specifically Population Screening and Council Group committees) - Public health considerations in population screening – a European perspective

4. Dr. Amicia Phillips, University of Exeter - Defining actionability within an expanded newborn genome screening context

5. Dr. David Bick, Genomics England - Readying health systems to handle expanded newborn genome screening

6. Dr. Aimé Lumaka, University of Kinshasa - Public health considerations in population screening - a African perspective