August 25-26, 2016 Meeting

Agenda (PDF - 163 KB)

Meeting Minutes (PDF - 345 KB)



Day 1

Opening Remarks and Committee Correspondence (PDF - 3.4 MB)
Joseph Bocchini, MD
Committee Chair
Louisiana State University

Pilot Study Workgroup Recommendation on Required Data Elements (PDF - 2.7 MB)
Joseph Bocchini, MD
Committee Chair
Louisiana State University

Pilot Study Recommendation (PDF - 1.2 MB)
Scott M. Shone, PhD
Program Manager
New Jersey Department of
Health, Newborn Screening

Molecular Analysis to Enhance Newborn Screening (PDF - 1.5 MB)
Michele Caggana, ScD, FACMG
Deputy Director of the Division of Genetics
Director of the Newborn
Screening Program
New York Department of Health

Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Panel Discussion (PDF 1.5 MB)
Don Bailey, PhD,
Committee Member

Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT)

Implementing Universal Pediatric Precision Medicine in San Diego (PDF - 4.1 MB)
David Dimmock, MD
Rady Children's Institute for Genomic Medicine

Barbara A. Koenig, PhD
University of California, San Franciso

Research Program in Translational Genomics and Health Outcomes (PDF - 2.1 MB)
Robert Green, MD, MPH
Brigham and Women's Hospital and Harvard Medical School

Determining Medical Actionability of Gene/Disease Pairs and Relevance to Newborn Screening (PDF - 1 MB)
Cynthia Powell, MD, MS
The University of North Carolina at Chapel Hill

Day 2

Newborn Screening Timeliness - Collaborative Improvement & Innovation Network (CoIIN) (PDF - 2.7 MB)
Yvonne Kellar-Guenther, PhD
Evaluator, NewSTEPs 360
University of Colorado,
School of Public Health

Robert Wood Johnson Project on Newborn Screening Timeliness (PDF - 887 KB)
Beth Tarini, MD, MS, FAAP
Committee Member
University of Iowa

Missouri's Experience Implementing Lysosomal Storage Disorders Screening and Follow-up for Pompe, Gaucher, Fabry and MPS-I and Krabbe Disorders (PDF - 237 KB)
Sharmini Rogers, MBBS, MPH
Chief, Bureau of Genetics and
Healthy Childhood
Missouri Department of
Health and Senior Services

Long Term Follow Up for Pompe Disease (PDF - 722 KB)
Jennifer M. Kwon, MD, MPH
Associate Professor,
Neurology, Pediatrics,
Pathology and Laboratory
Golisano Children's Hospital
University of Rochester

Cost Analysis Workgroup Update (PDF - 210 KB)
Alex Kemper, MD, MPH, MS
Condition Review Workgroup
Duke Clinical Research Institute and Department  
of Pediatrics

Education and Training Workgroup Update (PDF - 547 KB)
Cathy Wicklund, MS, CGC
Committee Member
Northwestern University

Follow-up and Treatment Workgroup Update (PDF - 1 MB)
Stephen McDonough, MD
Committee Member

Laboratory Procedures and Standards Workgroup Update (PDF - 79 KB)
Kellie Kelm, PhD Chair
Ex-Officio Committee Member
Food and Drug Administration

Date Last Reviewed:  June 2017