The 2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium and the International Society for Neonatal Screening featured presentations drawn from submitted abstracts from around the world, including invited oral presentations, poster sessions, exhibits, a Meet the Manufacturers session, awards luncheon, welcome reception, off-site social and tours of the GA Public Health Laboratory and the Newborn Screening and Molecular Biology Branch at CDC. The meeting addressed state, national and international newborn screening, genetic testing and policy issues important to national and global public health. Topics included new and emerging technologies, candidate conditions, common issues and solutions, clinical outcomes and short and long-term follow up.
Sunday, May 5, 2013
Opening Session
Welcome to Atlanta
Moderator – Arthur Hagar, PhD and Elizabeth Franko, DrPH, Georgia Public Health Laboratory
- Arthur Hagar, PhD, Georgia Public Health Laboratory
- Elizabeth Franko, DrPH, Georgia Public Health Laboratory
- Brenda Fitzgerald, MD, Commissioner, Georgia Department of Public Health and State Health Official
- Kenneth Pass, PhD, President, International Society for Neonatal Screening
- Scott Becker, MS, Association of Public Health Laboratories
Newborn Screening: Lessons from History May Help Solve Future Problems Moderator – Elizabeth Franko, DrPH, Georgia Public Health Laboratory
Bridget Wilcken, MD, The Children’s Hospital at Westmead, Sydney, Australia
Monday, May 6, 2013
Roundtables
NewSTEPs Learning Collaborative
- Marci Sontag, PhD, University of Colorado, Denver
Short-term Follow-up Processes in Newborn Screening
- Carol Johnson, Iowa Newborn Screening Program
Session 1 – History of Newborn Screening
Moderators – Jennifer Macdonald, RN, BSN, MPH, Virginia Department of Health and Harry Hannon, PhD, Centers for Disease Control and Prevention (retired)
New York State’s Contributions to the Field of Newborn Screening
- Deborah Rodriguez, RN, MPH, CPH, New York State Department of Health
Development of Screening for Congenital Hypothyroidism and Cystic Fibrosis in New Zealand
- Dianne Webster, PhD, New Zealand Newborn Metabolic Screening Programme,New Zealand
A History of the Development of Newborn Mass-screening (NBS) for Inborn Errors of Metabolism (IEM) in Japan
- Teruo Kitagawa, MD, Tokyo Health Services Association, Japan
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Quantification Test for G6PD Deficient Newborns And Their Parents Over 11-year Period In Singapore
- Pei Sze Liew, MRCPCH (UK), Singapore General Hospital, Singapore
Inter-Agency Coordination of State and Federal Newborn Hearing Screening Programs
- Ellen Pliska, MHS, Association of State and Territorial Health Officials
Session 2 - Common Issues and Solutions in Newborn Screening
Moderators – Joanne Mei, PhD, Centers for Disease Control and Prevention and Carmencita Padilla, MD, Philippines Newborn Screening Reference Center, Philippines
Emergency Preparedness for Newborn Screening Programs in the NYMAC Region
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Patricia Scott, MT(ASCP), Delaware Public Health Laboratory and
Joseph Orsini, PhD,New York State Department of Health
New Jersey Newborn Screening and Hurricane Sandy: Impact, Response, and Aftermath
- Scott Shone, PhD, New Jersey Division of Public Health & Environmental Laboratories
NewSTEPs: Year One
- Jelili Ojodu, MPH, Association of Public Health Laboratories
Creating a Set of Newborn Screening Case Definitions for Public Health Surveillance and Quality Assurance
- Anne Marie Comeau, PhD, New England Newborn Screening Program of University of Massachusetts Medical School
Systematic Data Collection to Inform Policy Decisions: Using the Laboratory Performance Database – (Region 4 Stork - R4S) MS/MS Data Project to Improve Newborn Screening in Washington State
- Ashleigh Fleischman, MPH, Washington State Newborn Screening Program
Session 3 – Lysosomal Storage Disorders
Moderators – Patrick Hopkins, BS, Missouri State Public Health Laboratory and Joseph Orsini, PhD, New York State Department of Health
Evaluation by MS/MS Assays of Disease-Specific Dried Blood Spot Reference Materials for Lysosomal Storage Disorders Made from Transformed Lymphoblast Cell Lines
- Hui Zhou, MD, PhD, Centers for Disease Control and Prevention
Inter-laboratory Evaluation of Dried Blood Spot Reference Materials for Newborn Bloodspot Screening to Detect Lysosomal Storage Disorders by Digital Microfluidic Fluorometry
- Robert Vogt, PhD, Centers for Disease Control and Prevention
Newborn Screening for Fabry, Pompe, and Mucopolysaccharidosis I by Tandem Mass Spectrometry
- C. Ronald Scott, MD, University of Washington
Screening for Fabry Disease in Japan
- Kimitoshi Nakamura, MD, Kumamoto University Hospital, Japan
Session 4 – Advancements & Improvements in Molecular Testing
Moderators – Michele Caggana, ScD, New York State Department of Health and Rachel Lee, PhD, Texas Department of State Health Services
Feasibility of Rapid Second-Tier Molecular Testing for CAH-Screening by International Cooperation
- Ralph Fingerhut, PhD, University Children’s Hospital, Newborn Screening Laboratory,Switzerland
One Year Experience for the Newborn Screening Molecular Assessment Program (MAP)
- Christopher Greene, PhD, Centers for Disease Control and Prevention
A Collaboration to Increase the Diversity of Mutations for Newborn Screening of Cystic Fibrosis Mutations
- Marie Earley, PhD, Centers for Disease Control and Prevention
The Molecular Network Website and Resource Center
- Laura Hancock, MS, Centers for Disease Control and Prevention
Second-tier DNA Confirmation of Newborn Screening Results Using Targeted Next Generation Sequencing
- Edwin Naylor, PhD, Parabase Genomics, Inc.
Tuesday, May 7, 2013
Roundtables
Update on the National Library of Medicine’s Work on Health Information Technology for Newborn Screening
- Swapna Abhyankar, MD, National Library of Medicine
Identifying Key Components of Newborn Screening Programs
- Yvonne Kellar-Guenther, PhD, University of Colorado, Denver
Concurrent Sessions
Short and Long-term Follow-up – Specific Disorders
Moderators – Angela Wittenaur, RN, MSN, Emory University and Erica Wright, MS, University of Colorado, Denver
Arkansas Newborn Screening Long-Term Follow-up Cohort Study
- Jo Ann Bolick, BSN, MA, University of Arkansas for Medical Sciences/Arkansas Children’s Hospital
Long-Term Follow-Up of Congenital Endocrine Disorders Diagnosed Through the California Newborn Screening Program: Preliminary Findings
- Lisa Feuchtbaum, DrPH, MPH, California Genetic Disease Screening Program
CAH Diagnostic Dilemmas: Two Case Reports
- John Thompson, PhD, MPH, MPA Washington State Newborn Screening Program
Long-term Follow-up for Cystic Fibrosis using Data from the Cystic Fibrosis Foundation Patient Registry (CFFPR)
- Beth Vogel, MS, New York State Department of Health
The Long and Short of Newborn Screening for Glutaric Aciduria-Type II: The New England Experience
- Inderneel Sahai, MD, New England Newborn Screening Program
Newborn Screening for Infants with Suspected Very Long-Chain Acyl-COA Dehydrogenase Deficiency in the Western United States
- J. Lawrence Merritt, II, MD, Seattle Children’s Hospital
QA/QC Method Development and Validation Strategies I
Moderators – Art Hagar, PhD, Georgia Public Health Laboratory and Eleanor Stanley,Michigan Department of Community Health
Adapting an In Situ Quantitative PCR Assay for T-cell Receptor Excision Circles (TREC)to Routine Use in Newborn Screening Laboratories
- Adrienne Manning, BS, Connecticut Department of Public Health Laboratory
Molecular Assessment of Dried Blood Spot Quality during Development of a Novel Automated In Situ TREC qPCR Assay for SCID Screening
- Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa
Using Multiple of the Medians (MoM) for Normalization of TREC Results Meets the Need for Standardized SCID Reporting
- Stanton Berberich, PhD, State Hygienic Laboratory at the University of Iowa
An Improved Method for DNA Extraction Method from Dried Blood Spots for T Receptor Excision Circle (TREC) Analysis and Other Newborn Screening Assays
- Heather Wood, MS, Michigan Department of Community Health
Dried Blood Spot DNA Extraction Validation Guidelines to Ensure Robust Performance in NBS Molecular Assays
- Suzanne Cordovado, PhD, Centers for Disease Control and Prevention
Concurrent Sessions
Short and Long-term Follow-up—QA/QC and Education
Moderators– John Thompson, PhD, Washington State Newborn Screening Program and Lois Taylor, RN, Florida Department of Health
Applying a Plan-Do-Study-Act Public Health Quality Improvement Process to Improve Response Time for Repeat/Confirmatory Specimen Collection for Hemoglobinopathies
- Julie Luedtke, Nebraska Department of Health and Human Services
Improving Primary Care Provider Response Time to Newborn Screening Borderline and Invalid Results
- Katharine Harris, MBA, New York State Department of Health
Incorporating State Newborn Screening Program Input on Quality Indicators
- Marci Sontag, PhD, University of Colorado, Denver
Newborn Screening Education in a Prenatal Setting
- Carol Johnson, Iowa Newborn Screening Program
Your Newborn Baby’s Blood Test
- Dianne Webster, PhD, New Zealand Newborn Metabolic Screening Programme, New Zealand
I/LA27-A2, Newborn Screening Follow-up: Approved Guideline-Second Edition
- Judi Tuerck, MS, Oregon Health & Science University (retired)
QA/QC Method Development and Validation Strategies II
Moderators– Victor De Jesus, PhD, Centers for Disease Control and Prevention and Santosh Shaunak, BS, Washington State Newborn Screening Program
Missouri’s Experience with Validation, Pre-pilot and Pilot Screening for Pompe,Gaucher, Fabry and Hurler Lysosomal Storage Disorders (LSDs) Using Advanced Liquid Logic Digital Microfluidics
- Patrick Hopkins, BS, Missouri State Public Health Laboratory
Comparison of Methods for the Analysis of Lysosomal Enzyme Activities in Quality Control DBS
- David Millington, PhD, Duke University
Pilot Newborn-Screening in Guatemala – First Experience with the NeoPlex4 ® Assay from LUMINEX
- Ralph Fingerhut, PhD, University Children’s Hospital, Newborn Screening Laboratory,Switzerland
The Assignment of Values to Dried Blood Spot Quality Control Samples
- J. Gerard Loeber, PhD, International Society for Neonatal Screening
Session 5 – Patient/Parent Panel
Moderators– Rani Singh, PhD, Emory University and Angela Wittenaur, RN, MSN,Emory University
Parental Perspectives on Disorders Detected by Newborn Screening
- Martin Lindner, MD, University of Heidelberg Children’s Hospital, Germany
Session 6 – Development of International Collaboration
Moderators– J. Gerard Loeber, PhD and Kenneth Pass, PhD, International Society for Neonatal Screening
Interagency Collaboration Improves Newborn Screening Quality
- Dianne Webster, PhD, New Zealand Newborn Metabolic Screening Programme, New Zealand
High Effectivity Index in an International Cooperation for Selective Screening for Inborn Errors of Metabolism
- Ralph Fingerhut, PhD, University Children’s Hospital, Newborn Screening Laboratory,Switzerland
Neonatal Screening for Hemoglobinopathies in Southeast Mexico: Experience from a Pioneering Program on 174,531 Newborns
- Patricia Martinez, QFB, Quimicos Maldonado SA de CV, Mexico
Selective Newborn Screening of Amino Acid, Fatty Acid and Organic Acid Disorders in the Kingdom of Bahrain
- Jamal Golbahar, PhD, Al-Jawhara Centre for Molecular Medicine and Inherited Disorders, Bahrain
The Need for a Paradigm Shift to Non-Communicable Diseases and Newborn Screening of Common Genetic Disorders in Nigeria
- Taiwo Rachel Kotila, MD, University of Ibadan/University College Hospital, Nigeria
Wednesday, May 8, 2013
Session 7 – Cystic Fibrosis Diagnosis and Treatment
Moderators– Veronica Wiley, PhD, The Children’s Hospital at Westmead and Anne Marie Comeau, PhD, New England Newborn Screening Program of University of Massachusetts Medical School
Newborn Screening for Cystic Fibrosis in Switzerland – Evaluation After Two Years
- Ralph Fingerhut, PhD, University Children’s Hospital, Newborn Screening Laboratory,Switzerland
Newborn Screening in Slovakia - New Approach
- Maria Knapkova, Childrens Faculty Hospital, Slovakia
The Addition of Pancreatitis-Associated Protein (PAP) in a Two-Tier IRT/DNA Newborn Screening Strategy for Cystic Fibrosis (CF) is Less Effective in Programs that Screen at 48 Hours of Age
- Enzo Ranieri, South Australia Neonatal Screening Centre, Australia
Improving IRT/DNA Newborn Screening for Cystic Fibrosis to Reduce False Positives by a New Molecular Strategy
- Mei Baker, MD, Wisconsin State Laboratory of Hygiene
CFTR Related Metabolic Syndrome (CRMS) Definition: Challenges in Application
- Richard Parad, MD, MPH, Harvard Medical School
Session 8 – Implementing Screening for New Conditions:CCHD & SCID
Moderators– Carla Cuthbert, PhD, Centers for Disease Control and Prevention and Johanna Pringle, MPH, Georgia Department of Public Health
An Educational Strategy to Implement Screening for Critical Congenital Heart Disease by Pulse Oximetry in Apparently Healthy Newborns: A Pilot Study in Texas
- Charleta Guillory, MD, Baylor College of Medicine and Texas Children’s Hospital
Overview of Western States Implementation and Cost Analysis for Newborn Screening for Critical Congenital Heart
- Sylvia Au, MS, Hawaii Department of Health
Diagnosis Coding and Case Definition for CCHD Detected by Newborn Screening
- Alan Zuckerman, MD, National Library of Medicine
Translational Research in Newborn Screening: Efforts to Facilitate Implementation of Newborn Screening for Severe Combined Immunodeficiency (SCID)
- Amy Brower, PhD, American College of Medical Genetics & Genomics
CLSI Guideline on Newborn Screening for Severe Combined Immunodeficiency (SCID)
- Lisa Kobrynski, MD, MPH, Emory University School of Medicine
Application of NextGen Sequencing (Ion Torrent) for Second Tier SCID Screening in New York State
- Carlos Saavedra-Matiz, MD, New York State Department of Health
Session 9 – Financial, Ethical, Legal and Social Issues
Moderators– Susan Tanksley, PhD, Texas Department of State Health Services and Brad Therrell, PhD, National Newborn Screening & Global Resource Center
Translational Research in Newborn Screening: Development of a Virtual Repository of Residual Dried Blood Spots
- Amy Hoffman, MPH, American College of Medical Genetics and Genomics
Michigan BioTrust for Health: Population Characteristics Following Implementation of a Statewide Consent Process
- Mary Kleyn, MS, Michigan Department of Community Health
Overview of Litigation Regarding the Retention and Use of Residual Newborn Screening Dried Blood Samples
- Michelle Lewis, MD, JD, John Hopkins University
Opt-in or Opt-out – Texas Experiences in Implementation of Newborn Screening Residual Specimen Storage and Use Requirements
- Brendan Reilly, Texas Department of State Health Services
Considering Consent: Factors Influencing Parental Perceptions of Decision Quality When Accepting Newborn Screening
- Stuart Nicholls, PhD, University of Ottawa, Canada
Fragile X Forum
Moderator- Don Bailey, PhD, RTI International
Evaluation of Fragile X Screening Methods for Early Detection of Affected Infants
- Patricia Mueller, PhD, Centers for Disease Control and Prevention
Fragile X Newborn Screening Pilot Study: Lessons Learned
- Don Bailey, PhD, RTI International
- Cynthia Powell, MD, University of North Carolina at Chapel Hill
- Anne Wheeler, PhD, University of North Carolina at Chapel Hill
Thursday, May 9, 2013
Session 10 – Newborn Screening Electronic Data Systems
Moderators– Fred Lorey, PhD, California Department of Public Health and Swapna Abhyankar, MD, National Library of Medicine
Approach and Challenges to Implementing Electronic Data Transmission (EDT) for Newborn Screening in a State with Greater than 100 Birth Hospitals
- Joseph Orsini, PhD, New York State Department of Health
Colorado’s Integrated Data System: One State’s Approach to a Comprehensive Health Information Exchange for Short-term and Long-term Follow-up
- Erica Wright, MS, University of Colorado, Denver
Developing the Ontology for Newborn Screening, Long-term Follow-up and Translational Research (ONSTR)
- Prabhu Shankar, MD, MS, Emory University School of Medicine
Using the National Library of Medicine’s HL7 Result Message to Calculate Newborn Screening Lab Quality Indicators
- Alan Zuckerman, MD, National Library of Medicine
Session 11 – Clinical Outcomes
Moderators– Neena Champaigne, PhD, Greenwood Genetic Center and Susan Berry, MD, University of Minnesota School of Public Health
Development of Informatics Tools to Support the Long-Term Follow-Up of Individuals with Conditions Included in Newborn Screening: A Pilot Focused on Inborn Errors of Metabolism
- Amy Brower, PhD, American College of Medical Genetics and Genomics
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency and Newborn Screening in Japan
- Seiji Yamaguchi, MD, Shimane University, Japan
Confirming the Diagnosis by Reduced Very Long-Chain Acyl-CoA Dehydrogenase Activity in Newborns Identified by Newborn Screening
- Francois Eyskens, MD, PhD, EVAP-PCMA, Belgium
Sickle Cell Disease Surveillance in California: Methods, Findings and Challenges
- Lisa Feuchtbaum, PhD, MPH, California Genetic Disease Screening Program
New Cystic Fibrosis Therapies
- Marci Sontag, PhD, University of Colorado, Denver
Session 12 – Candidate Conditions
Moderators– Graham Sinclair, PhD, British Columbia Children’s Hospital and Marci Sontag, PhD, University of Colorado, Denver
Attitudes of Pediatricians in Pennsylvania and South Carolina Toward Newborn Screening for Muscular Dystrophy and Spinal Muscular Atrophy
- Edwin Naylor, PhD, Medical University of South Carolina
Feasibility of Newborn Screening for Guanidinoacetate Methyltransferase (GAMT) Deficiency
- Marzia Pasquali, PhD, University of Utah/ARUP Laboratories
Quantification of Orotic Acid in Dried Blood Spots to Detect Ornithine Transcarbamylase Deficiency
- Patrice Held, PhD, Wisconsin State Laboratory of Hygiene
Towards Newborn Screening for Cerebrotendinous Xanthomatosis
- Andrea DeBarber, PhD, Oregon Health & Science University
Friday, May 10, 2013
Session 13 – New Developments, Old Conditions:Methods & Lessons Learned
Moderator– Julie Luedtke, Nebraska Department of Health and Human Services and Enzo Ranieri, South Australia Neonatal Screening Centre
The Art (and Science) of Newborn Screening
- John Thompson, PhD, Washington State Newborn Screening Program
Multistate Analysis of Single Tests or Routine Second Testing in Newborn Screening for Primary Congenital Hypothyroidism
- Stuart Shapira, MD, PhD, Centers for Disease Control and Prevention
Analysis of Confirmed Congenital Adrenal Hyperplasia Cases Identified by Newborn Screening in One-Screen Compared with Two-Screen States
- Patrice Held, PhD, Wisconsin State Laboratory of Hygiene
Autosomal Dominant Hypermethioninemia Identified by Newborn Screening Due to Multiple MAT1a Mutations in an Ethnically Diverse Population
- Graham Sinclair, PhD, British Columbia Children’s Hospital
HPLC-ESI-MS/MS Analysis of Hemoglobin Peptides in Tryptic Digests of Dried Blood Spot Extracts Detects HbS, HbC, and HbE Hemoglobinopathies
- Christopher Haynes, PhD, Centers for Disease Control and Prevention
Session 14 – New and Emerging Technologies
Moderators– Scott Shone, PhD, New Jersey Division of Public Health and Environmental Laboratories and Robert Vogt, PhD, Centers for Disease Control and Prevention
Overview of Genomic Technologies: Next-generation Sequencing (NGS)
- Patricia Mueller, PhD, Centers for Disease Control and Prevention
CYP21A2 Mutations Found in Congenital Adrenal Hyperplasia Patients in the California Population
- Christopher Greene, PhD, Centers for Disease Control and Prevention
Evaluation of DNA Extraction Methods for the Detection of Cytomegalorvirus in Dried Blood Spots
- Deborah Koontz, PhD, Centers for Disease Control and Prevention
Evaluation of an Enhanced Interpretation of Tandem Mass Spectrometry Newborn Screening Results in Suggesting Inborn Metabolic Errors Using a Cohort of Sudden Infant Death Syndrome Cases
- Ning An Rosenthal, MD, PhD, California Department of Public Health
First Experience with an Automated On-Line Extraction System for MS/MS Newborn Screening
- Ralph Fingerhut, PhD, University Children’s Hospital, Newborn Screening Laboratory,Switzerland