National Newborn Screening Meeting on New Disorders

Pompe was added to the Recommended Uniform Screening Panel (RUSP) in March 2015, and X-Linked Adrenoleukodystrophy (X-ALD) and Mucopolysaccharidosis type I (MPS I) were added in February 2016. State newborn screening programs pursuing universal implementation of these three new disorders encounter laboratory, staffing, clinical follow-up, personnel, equipment, education and legislative challenges.

Purpose: To convene newborn screening personnel (both APHL subawardees and non-subawardees) who support the implementation of new disorders added to the RUSP, as well as pertinent partners and stakeholders who have experience with implementing new disorders.

Meeting Objectives: 

1. Discuss current status of newborn screening for Pompe, MPS-I and X-ALD.
2. Discuss policy, laboratory, follow-up and education needs, barriers and solutions for newborn screening
3. Provide state experiences in implementing newborn screening. Agenda:

Resources:

• New Disorder Presentation: This presentation provides an overview of the status of newborn screening (NBS) implementation for new disorders added to the RUSP, and highlights the goals of the national NBS meeting on new disorders in June, 2017.
• Overview of Phase one - Legislation/Mandate Stage: This presentation provides an overview of where states are in regard to phase one legislation activities, and outlines technical assistance provided by APHL's public policy team.
• Illinois New Disorders (MPS I): This is a presentation provided by the Illinois Department of Health describing their experience providing follow-up for Mucopolysaccharidosis Type I (MPS I).
• NBS for Pompe Disease: This is a presentation provided by the New York State Department of Health describing the process of implementing screening for Pompe Disease in New York State.
• Legislation to Implementation: This is a presentation provided by the Missouri State Public Health Laboratory describing the process of implementing screening for Pompe Disease in Missouri.
• Connecticut NBS x-ALD: This is a presentation provided by the Connecticut Department of Public Health describing the implementation of newborn screening (NBS) for X-Linked Adrenoleukodystrophy (X-ALD) in Connecticut.
• ALD Clinical Consideration: This is a presentation provided by Paul Orchard, MD, describing the clinical considerations for screening for X-Linked Adrenoleukodystrophy (X-ALD).
• LSD Screening Implementation Progress: This is a presentation provided by the Missouri State Public Health Laboratory describing the services they provide as a Peer Network Resource Center (PNRC) of the new disorder implementation project.
• Peer Network Resource Center: This is a presentation provided by the Wisconsin State Laboratory describing the services they provide as a Peer Network Resource Center (PNRC) for the new disorder implementation project.
• Short-Term Follow-Up for New Diseases: This is a presentation provided by the Minnesota Department of Health describing short-term follow-up for new diseases.
• Long-Term Follow-Up for New Diseases: This is a presentation provided by the Minnesota Department of Health describing long-term follow-up for X-ALD, MPS I, and Pompe Disease.