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Department of Health and Human Services
Discretionary Advisory Committee on Heritable Disorders in Newborns and Children

Twenty Ninth Meeting of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

January 31-February 1, 2013

Day 1 Presentations

User’s Guide to SACHDNC Decision Matrix (PDF - 287 KB)
Alex Kemper, MD, MPH, MS

Proposed Committee Use of Matrix (PDF - 907 KB)
Joseph Bocchini, MD
Sara Copeland, MD

Newborn Screening for Pompe Disease: Preliminary Evidence Review and Public Health Impact (PDF - 837 KB)
Alex Kemper, MD, MPH, MS

Population-based Carrier Screening Work Group Final Report (PDF - 229 KB)
Meredith Weaver, PhD, ScM, CGC

 

Day 2 Presentations

Implementation of Newborn Screening for Severe Combined Immune Deficiency (PDF - 5.2 MB)
Amy Brower, PhD

Critical Congenital Heart Disease Newborn Screening National Implementation and Data Reporting (PDF - 348 KB)
Marci Sontag, PhD

Genomic Sequencing and Newborn Screening Disorders (PDF - 776 KB)
Tiina Urv, PhD

Duchenne Muscular Dystrophy: Path to Newborn Screening (PDF - 2.9 MB)
Jerry Mendell, MD

Laboratory Standards and Procedures Subcommittee Report (PDF - 612 KB)
Carla Cuthbert, PhD, FACMG, FCCMG

Education and Training Subcommittee Report (PDF - 174 KB)
Don Bailey, PhD, MEd

Follow-up and Treatment Subcommittee Report (PDF - 218 KB)
Carol Greene, MD
Chris Kus, MD, MPH

 

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