5th Annual Robert J. Gorlin Symposium
Global Access to Newborn Screening: A Call to Action!
Thursday, February 5, 2026
17:45 – 19:00 PST
1.25 Hour CE Session*
Overview: There is tremendous global variation in access to newborn screening (NBS), even at the state or province level within individual countries, like the United States and Canada. With the dissolution of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) in the United States, there is a no longer a federal entity reviewing research and recommending additions to the Recommended Uniform Screening Panel (RUSP) a list of conditions for which every newborn in the U.S. should be screened. There is an opportunity for other entities to step up to fill the void, and a coordinated and focused effort will be needed. In addition, the U.S. can learn from other countries that have different perspectives on NBS, including implementing NBS for all diseases which “check all the boxes”, and even broader genome screening. This session will bring together international stakeholders to identify barriers, discuss opportunities, and identify practical solutions to help inform international changes for global NBS going forward
Format: Expert panel interviews and discussion with focused questions intended to address the stated issues. The session concluded with audience Q&A.
Symposium Agenda:
17:45 Welcome and Introduction of Faculty
17:50 Focused Interview Questions for Faculty with Panel Discussion
18:45 Open Audience Q&A
19:00 Adjourn
Course Director and Co-Chair:
Jeanine Jarnes, PharmD
MSc Pharmacogenomics
Board Certified Pharmacotherapy Specialist
Board Certified Oncology Pharmacist
Assistant Professor, Department of Pediatrics
University of Minnesota Medical School
Pharmacotherapy for Inherited Metabolic Diseases
Advanced Therapies Department
College of Pharmacy, Experimental and Clinical Pharmacology
Minneapolis, MN, United States
Co-Chair:
Amy Gaviglio, MS, CGC
Genetics and Public Health Consultant
Newborn Screening and Genetics
Minneapolis, MN, United States
Faculty:
Simon Jones, MBChB
Consultant in Paediatric Inherited Metabolic Disease
Professor, The University of Manchester
Manchester, United Kingdom
Maria Kefalas, PhD
Founder, The Calliope Joy Foundation
Educator, advocate, and author
Bala-Cynwyd, PA, United States
Andreas Øberg, MD
Norwegian National Unit for Newborn Screening,
Division of Pediatric and Adolescent Medicine,
Oslo University Hospital
Oslo, Norway
Melissa Wasserstein, MD
Chief, Division of Pediatric Genetic Medicine
Professor of Pediatrics and Genetics
Raizin Distinguished Faculty Scholar in Pediatrics
The Children’s Hospital at Montefiore
The University Hospital for Albert Einstein College of Medicine
Bronx, NY, United States
Learning Objectives:
At the end of this session, participants will be able to:
- Identify global differences that exist in criteria for implementing newborn screening (NBS) and which geographic regions have implemented NBS, and which have not.
- Identify how uniform newborn screening helps address the unmet medical needs of patients with lysosomal diseases.
- Define barriers to implementing newborn screening for lysosomal diseases (LDs) and propose practical solutions to overcome them.
- Recognize which lysosomal diseases currently ‘check all the boxes’ to meet established criteria for newborn screening, based on laboratory technology, administrative infrastructure, and clinical care.
- Describe how adopting a genomic approach to NBS could reduce barriers to implementation, transform LD research, enable more timely treatment, and improve patient outcomes.