The 2016 APHL Newborn Screening and Genetic Testing Symposium 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 tour of the Missouri State Newborn Screening Laboratory. The meeting addressed state, national and international newborn screening, genetic testing and policy issues important to national and global public health. Topics included laboratory updates, molecular advances, candidate conditions, CCHD, clinical outcomes, short and long-term follow- up and quality assurance/quality control.
Monday, February 29
Roundtables
Legislative Fact Sheet - Adding Conditions to State NBS Panels
- Kimberly Piper, Iowa Department of Public Health
Short-Term Follow-Up Roundtable: Successes and Challenges
- John D. Thompson, PhD, MPH, MPA, Washington State Newborn Screening Program
Welcome Session
Moderators – Patrick Hopkins, BS, Missouri Department of Health & Senior Services
- Richard Olney, MD, MPH, California Department of Public Health
- Veronica Wiley, PhD, The International Society for Neonatal Screening
- Richard Olney, MD, MPH, California Department of Public Health
- Patrick Hopkins, Missouri Department of Health & Senior Services
- Mike Massman, Missouri State Public Health Laboratory
- Veronica Wiley, PhD, The International Society for Neonatal Screening
- Jelili Ojodu, MPH, Association of Public Health Laboratories
Session 1 - Current Conditions in State Newborn Screening Panels
Moderators – Patrick Hopkins, BS, Missouri Department of Health & Senior Services
- Richard Olney, MD, MPH, California Department of Public Health
- Veronica Wiley, PhD, The Children’s Hospital at Westmead, Australia
Status of Screening for Recommended Disorders in the United States
- Sikha Singh, MHS, PMP, Association of Public Health Laboratories
Building and Enhancing Laboratory Capacity for Screening and Diagnosis of Hemoglobinopathies
- M. Christine Dorley, MSP, BS, MT(ASCP), Tennessee Department of Health
Evaluation of Modified Newborn Screening Algorithms for Critical Congenital Heart Disease at Moderate Altitude
- Leilani Russell, MPH, Colorado School of Public Health
Screening for ALD in New York, Expect the Unexpected and New York's Experience: Screening for Pompe Disease
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Michele Caggana, ScD, FACMG
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Joseph Orsini, PhD, New York State Department of Health
Session 2 - Prospective Newborn Screening Conditions
Moderators – Leslie Gaffney, California Department of Public Health
- Don Bailey, PhD, RTI International
Missouri's Experience with Krabbe Screening Using a Simple Bench Fluorometric Assay
- Patrick Hopkins, BS, Missouri State Public Health Laboratory
Development of a 3-plex Assay by MS/MS to Detect the Lysosomal Storage Diseases MPS-II, MPS-IVA and MPS-VI
- Susan Elliott, BS, University of Washington
Development of a New Bloodspot Screening Assay for Duchenne Muscular Dystrophy (DMD)
- Stuart Moat, PhD, FRCPath, University Hospital of Wales
Progress of Newborn Screening for Spinal Muscular Atrophy
- Shu-Chuan Chiang, National Taiwan University Hospital
Inter-Laboratory Comparison of Assays to Measure SMN2 Copy Number in Dried Blood Spots from Patients with Spinal Muscular Atrophy
- Robert Vogt, PhD, Centers for Disease Control and Prevention
Keynote Session - Panel Discussion
Moderator – Michele Caggana, ScD, FACMG, New York State Department of Health
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Michele Caggana, ScD, FACMG, New York State Department of Health
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Jeffrey Botkin, MD, MPH, University of Utah
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Joe Palca, PhD, National Public Radio Science Desk
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Cynthia M. Powell, MD, MS, University of North Carolina at Chapel Hill
Session 3 - International Perspectives
Moderators – Joanne Mei, PhD, Centers for Disease Control and Prevention
- Fred Lorey, PhD, International Society for Neonatal Screening
Toward National Newborn Screening in Australia
- Veronica Wiley, PhD, The Children’s Hospital at Westmead, Australia
Further Expansion of the Neonatal Screening Panel in the Netherlands
- J. Gerard Loeber, PhD, International Society for Neonatal Screening, The Netherlands
The Prevalence of Hereditary Hemoglobin Disorders and its Implications for Newborn Screening in Germany
- Zoltan Lukacs, PhD, Hamburg University Medical Center, Germany
Integration of SCID Screening into the Dutch Newborn Screening Program: Benefits and Shortcomings of the Available Screening Assays
- Peter Schielen, RIVM, The Netherlands
Multiplex Screening for Treatable Lysosomal Storage Diseases (LSDs)
- Francois Eyskens, MD, PhD, PCMA vzw, Belgium
Tuesday, March 1
Industry Workshops
PerkinElmer: New Solutions for Emerging Disorders
- Fred Lorey, PhD, HHS Secretary Advisory Committee on Heritable Disorders in Newborns and Children
- Mack Schermer, PhD, R&D Director, PerkinElmer Diagnostics
STACS DNA: You Tell Us: Could this Simple Tracking Software Improve your NBS Timeliness?
- Heather Macintosh, VP Marketing and Kyle Kipp, Quality Assurance Analyst, STACS DNA
Joint Follow-up and QA/QC Session
Moderators – John D. Thompson, PhD, MPH, MPA, Washington State Newborn Screening Program
- Eleanor Stanley, BS, MT(ASCP), Michigan Department of Community Health
Updating the National Newborn Screening Contingency Plan: Addressing Gaps in the System
- Scott Shone, PhD, New Jersey Department of Health
Communicating Incidental Findings of Sickle Cell Trait on the Newborn Screen: A Community Needs-based Assessment
- Maggie Dreon, MS, CGC, Minnesota Department of Health
Interactive Training Webinar for Newborn Screening Specimen Collection
- Patrice Held, PhD, FACMG, Wisconsin State Laboratory of Hygiene
Follow-up Status During the First Five Years of Life for Select Primary RUSP Disorders Diagnosed Through California Newborn Screening
- Lisa Feuchtbaum, DrPH, MPH, California Department of Public Health
Improving Short- and Long-term Follow-up
Moderators – Carol Johnson, University of Iowa Hospitals and Clinics
- Rachael Montgomery, RN, Alabama Department of Public Health
Quality Improvement Strategies for a State Newborn Hearing Screening Program
- Sylvia Mann, MS, CGC, Hawaii Department of Health Genetics Program
Using State Birth Defects Registries to Evaluate Outcomes of Critical Congenital Heart Disease Newborn Screening
- Monica McClain, MS PhD, University of New Hampshire
MN Medical Foods Initiative: Building a Long-term Strategy for Assisting Families in Obtaining Medical Foods and Dietary Supplements for IBEM Management
- Susan Berry, MD, University of Minnesota
Congenital Hypothyroidism in Newborn Infants with Borderline TSH Screening Values
- Conchita G. Abarquez, MD, Newborn Screening Center Mindanao, Philippines
Arkansas Newborn Screening Long-Term Follow-up Cohort Study – Year 3
- Jo Ann Bolick, BSN, MA, University of Arkansas for Medical Sciences/Arkansas Children's Hospital
QA/QC Session – Factors That Can Improve Screening Outcomes
Moderators – Patricia Hunt, BA, Texas Department of State Health Services
- Art Hagar, PhD, Georgia Public Health Laboratory
The Effects of Gestational Age and Birth Weight on the Newborn Screening Activities of Enzymes Associated with Lysosomal Storage Disorders
- Rong Shao, MD, Illinois Department of Public Health
Normalization of Laboratory MS/MS Cutoffs Using CDC NSQAP Quality Control Materials
- Mary Seeterlin, PhD, Michigan Department of Health & Human Services
Factors to Consider in Newborn Screening Algorithm for SCID
- Rachel Lee, PhD, Texas Department of State Health Services
Propionic Acidemia Screening in the Amish and Mennonite Populations
- Zineb Ammous, MD, The Community Health Clinic
Session 4 - Molecular Application
Moderators – Rachel Lee, PhD, Texas Department of State Health Services
- Suzanne Cordovado, PhD, Centers for Disease Control and Prevention
Development of a Multiplex CYP21A2 Genotyping Assay for Congenital Adrenal Hyperplasia Screening
- Christopher Greene, PhD, Centers for Disease Control and Prevention
Automation of the in situ Dried Blood Spot Screening Assay for Severe Combined Immunodeficiency
- Laura Hancock, MS, Centers for Disease Control and Prevention
Overview of the First Eight Years of Newborn Screening for Cystic Fibrosis: The California Experience
- Tracey Bishop, California Department of Public Health
Second Tier Full Gene Sequencing for Follow-up of Positive Newborn Screening for Very Long-chain Acyl-CoA Dehydrogenase Deficiency and Glutaric Aciduria Type 1
- Neena Champaigne, MD, Greenwood Genetic Center
Sequence Coverage of Genes for Inborn Errors of Metabolism by DNA Prepared from Residual Newborn Screening Dried Blood Spots
- Robert Currier, PhD, California Department of Public Health
Session 5 - Screening for Special Populations
Moderators – Christine Dorley, MSP, BS, MT(ASCP), Tennessee Department of Health: Laboratory Services
- Kimberly Piper, RN, BSN, CPH, CPHG, Iowa Department of Public Health
Improving the Entire Newborn Screening Process for Out of Hospital Births
- Amy Gaviglio, MS, CGC, Minnesota Department of Health
Newborn Screening in the NICU: Colorado's Experience with Screening Low Birth Weight Infants
- Erica Wright, MS, CGC, Colorado Department of Public Health and Environment
Comprehensive Screening for Severe Combined Immunodeficiency in Manitoba, Canada
- J. Robert Thompson, BS, RT, DBT, Cadham Provincial Laboratory
Catching Blue Babies: Critical Congenital Heart Defects in Newborns
- Merlin Ariefdjohan, PhD, Colorado School of Public Health, University of Colorado
Wednesday, March 2
Roundtables
Strategies for Implementing Newborn Screening for Adrenoleukodystrophy (ALD)
- Lisa Feuchtbaum, DrPH, MPH, California Department of Public Health
Solutions for Implementing Newborn Screening Surveillance Case Definitions
- Louis Bartoshesky, MD, Christiana Care
Session 6 – Health Information Technology
Moderators – Dariush Shirazi, State Hygienic Laboratory at the University of Iowa
- Drew Richardson, Florida Department of Health
HIT the Ground Running: Statewide Implementation of Electronic Demographics and Reporting of Point-of-Care Newborn Screening Results
- Amy Gaviglio, MS, CGC, Minnesota Department of Health
Past, Present, Future - Health Information Technologies in the Texas Newborn Screening Laboratory
- Brendan Reilly, Texas Department of State Health Services
Increasing Newborn Screening Health Information Interoperability: A Systems Approach
- Heather Brand, Minnesota Department of Health
Proof of Concept Project Using Electronic Birth Notification to Improve Surveillance and Quality of Newborn Screening Pre-Analytic Processes: Implementation of NANI in Select Indiana Hospitals
- Victoria Buchanan, Indiana State Department of Health
Session 7 - Education
Moderators – Amy Gaviglio, MS, CGC, Minnesota Department of Health
- Brad Therrell, PhD, National Newborn Screening and Global Resource Center
Baby’s First Test: 5 Years of a National Educational Initiative
- Jaclyn Seisman, MPH, Genetic Alliance
Impact of Continuing Medical Education on Primary Care Providers' Knowledge and Confidence in Caring for Patients with Congenital Hypothyroidism
- Emily Bezar, MA, Public Health Foundation Enterprises
Health Communication Strategies for Newborn Screening
- Patti Constant, MPH, Minnesota Department of Health
Development of the NC NEXUS Decision Aid: Implications for Parental Education and Newborn Screening
- Megan Lewis, PhD, RTI International
Session 8 - Parent/Patient Panel
Moderators – Sharmini Rogers, MPH, MBBS, Missouri Department of Health & Senior Services and Natasha Bonhomme, Genetic Alliance
- Felicia Smith (parent of child with Cystic Fibrosis)
- Heather Smith, SCID, Angels for Life Foundation
- Kari Jacobsen (parent of child with infantile Pompe)
- Rosemary Britts (parent of child with Sickle Cell Disease)
Session 9 - Financial, Legal, Ethical, Policy and Social Implications (FLEPSI)
Moderators - Alisha Keehn, MPA, American College of Medical Genetics and Genomics
– Aaron Goldenberg, Case Western Reserve University
Parental Interest in Genomic Sequencing (GS) of Healthy Newborns: Experiences from the BabySeq Project
- Richard Parad, MD, MPH, Brigham and Women's Hospital
The Michigan BioTrust for Health: Impact of Parental Consent Process on Robust Population-Based Research Using Residual Newborn Screening Blood Spots
- Mary Kleyn, MSc, Michigan Department of Health and Human Services
Analysis of Four Lysosomal Storage Disorders within the Context of Newborn Screening in Washington State
- John Thompson, PhD, MPH, Washington State Newborn Screening Program
Thursday, March 3
Session 10 - Quality Improvement - Timeliness
Moderators – Susan Tanksley, PhD, Texas Department of State Health Services
- Cheryl Hermerath, MBA, BS, DLM(ASCP), RR(NRCM), Portland, Oregon
Meet Your Match: The Importance of Vital Record Matching in the Realm of Timely Newborn Screening
- Amy Gaviglio, MS, CGC, Minnesota Department of Health
What Predicts NBS Specimen Timeliness in a State-based Cohort of Birthing Hospitals?
- Beth Tarini, MD, MS, University of Michigan
A Lean Six Sigma Approach to Continuous Quality Improvement in Texas Newborn Screening Program
- Patricia Hunt, BA, Texas Department of State Health Services
Collaborating Across States to Improve NBS Timeliness: An Overview of the CoIIN (Collaborative Improvement and Innovation Network) for Timeliness
- Yvonne Kellar-Guenther, PhD, Colorado School of Public Health
Collaborative Improvement and Innovation Network (CoIIN) for Timeliness in Newborn Screening in Colorado and Wyoming
- Erica Wright, MS, CGC, Colorado Department of Public Health and Environment
Session 11 - Quality Improvement - Getting it Right
Moderators – Rasoul Koupaei, PhD, DABCC, FACB, California Department of Public Health
- Susan Berry, MD, University of Minnesota School of Medicine
Does Every Baby Get Screened? - Overhauling Birth Monitoring in Washington State
- Ashleigh Ragsdale, MPH, Washington State Newborn Screening Program
Multi-analyte Data Analysis Reduces False Positives in Cystic Fibrosis
- Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa
Use of Quality Initiative to Increase CCHD Screening
- Jamey Kendall, RN, Kansas Department of Health and Environment
Using Lean Process for Improvement in Newborn Screening
- Bill Hoffman, Washington State Newborn Screening Program
The Wisconsin Experience Getting In-Step with NewSTEPs Quality Indicators
- Mei Baker, PhD, Wisconsin State Laboratory of Hygiene