​The 2014 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 Long Beach 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, point-of-care for CCHD, clinical outcomes, short and long-term follow- up and quality assurance/quality control. 

Monday, October 27

Roundtables

Making the NewSTEPs Repository Data Work for You
– Yvonne Kellar-Guenther, PhD, University of Colorado, Denver

Roundtable Discussion of Short Term Follow Up Processes in Newborn Screening
– Carol Johnson, University of Iowa Hospitals and Clinics

Welcome and Keynote Session

Welcome to Orange County and California
Moderator – Leslie Gaffney, California Department of Public Health
- Cheryl Hermerath, MBA, DLM(ASCP), RR(NRCM), Oregon State Public Health Laboratory
- Leslie Gaffney, Assistant Division Chief, California Department of Public Health
- Jelili Ojodu, MPH, Association of Public Health Laboratories

Keynote Session
Newborn Screening:  Where We’ve Been and Where We Think We’re Going
Moderator - Cheryl Hermerath, MBA, Oregon State Public Health Laboratory
- Edward R.B. McCabe, MD, PhD, Senior Vice-President and Medical Director, March of Dimes
- Michael Glass, MS, Director (retired) , Office of Newborn Screening, Washington State Public Health Laboratories

Session 1 – Laboratory Updates
Moderators – Victor De Jesus, PhD, Centers for Disease Control and Prevention and Cheryl Hermerath, MBA, Oregon State Public Health Laboratory

Newborn Screening of Premature Infants: Clinical Trial Data Suggests Gestational Age and Chronological Age are Key to Interpretation
– Donald Chace, PhD, Pediatrix Medical Group

IRT Cut-off Levels Related to Age of Sampling
- Toni Torresani, PhD, Swiss Newborn Screening Laboratory

A Qualitative Approach for the T cell Receptor Excision Circle (TREC) Assay for the Detection of Primary Immune Deficiency Syndromes (PIDS) Demonstrates Better Sensitivity and Specificity Versus Using a Quantitative Approach
- Heather Wood, MS, Michigan Department of Community Health

Multiplex Mass Spectrometric Newborn Screening and Diagnosis of Lysosomal Storage Diseases
- Michael Gelb, PhD, University of Washington

A 5 Minute Extraction Protocol for MSMS: STAT Reporting of Medical Emergency MSMS Profiles
- Mary Seeterlin, PhD, Michigan Department of Community Health

Session 2 – Clinical Outcomes
Moderators – Erica Wright, MS, CGC, Children’s Hospital of Colorado and Neena Champaigne, MD, Greenwood Genetic Center

SCID Secondary Targets Identified by the Texas Newborn Screening Program
- Debra Freedenberg, MD, PhD, Texas Department of State Health Services

Homozygosity for a Carnitine Palmitoyltransferase 1A Genetic Variant is Associated with an Increased Risk for Infant Mortality: Implications for Newborn Screening
- David Koeller, MD, Oregon Health & Science University

VLCADD Pacific Island Mutation? A Study of Hawaii Newborn Screening Dried Blood Spots
– Kristy McWalter, MS, CGC, Hawaii Department of Health

Assuring Access to Nutritional Treatment for Inborn Errors of Metabolism: Michigan's Diet for Life Work Group Process and Experience
– Janice Bach, MS, Michigan Department of Community Health

Session 3 – Molecular Advances
Moderators – Suzanne Cordovado, PhD, Centers for Diseases Control and Prevention and Michelle Caggana, ScD, New York State Department of Health

Evaluation of Stored Newborn Screening Specimens from Children Diagnosed with Conditions that May be Identifiable in the Newborn Period by Molecular Testing for Measures of T and B Cell Development
– Anne Marie Comeau, PhD, New England Newborn Screening Program

Determination of TREC Copy Numbers from Dried Blood Spots Using Digital PCR
– Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa

A Multiplex Assay for Concurrent Newborn Screening of Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID)
– Francis Lee, PhD, Centers for Disease Control and Prevention

Next Generation Sequencing of CFTR from Dried Blood Spots Using the ION Torrent PGM™
– Miyono Hendrix, BS, Centers for Disease Control and Prevention

NC NEXUS: North Carolina Newborn Exome Sequencing for Universal Screening Project
– Cynthia Powell, MD, University of North Carolina, Chapel Hill

Tuesday, October 28

Concurrent Sessions

Short-term and Long-term Follow-up 1 - Reassessing Business as Usual in Follow-up
Moderators – Carol Johnson, University of Iowa Hospitals and Clinics and Lisa Feuchtbaum, DrPH, California Department of Public Health

Evaluating and Implementing Change in Follow-up
– Sara Denniston, BS, Oregon State Public Health Laboratory

The Controversy on Mild (Compensated) Congenital Hypothyroidism – The Path We Took to Resolve the Dilemma in Washington NBS
– Patricia Fechner, MD, Seattle Children’s Hospital

Feasibility of Providing Long-Term Care and Follow-up for Patients with Congenital Hypothyroidism by Primary Care Providers in California and Hawaii
– Ning Rosenthal, MD, PhD, California Department of Public Health

Reducing Time from Referral to Treatment: Strengthening the Weak Links in the Newborn Screening Chain of Events
– Amanda Kimura, MPH, Washington State Public Health Laboratories

QA/QC 1 – Strategies to Reduce False Positives and False Negatives (Part 1)
Moderators - Fizza Gulamali-Majid, PhD, Maryland Department of Health and Mental Health and Joseph Orsini, PhD, New York State Department of Health

A New Comprehensive and Ongoing Newborn Screening Interference List Maintained by the APHL Quality Assurance/Quality Control Subcommittee
– Patrick Hopkins, BS, Missouri State Public Health Laboratory

Incidental G-6-PD Identification Using the PerkinElmer GSP Neonatal GALT Kit
– Cheryl Hermerath, MBA, Oregon State Public Health Laboratory

Cystic Fibrosis Screening: Attempts To Reduce False Negatives
– Gary Hoffman, BS, Wisconsin State Laboratory of Hygiene

Does IRT/IRT/DNA Really Work? - Review of Cystic Fibrosis Newborn Screening in Texas
– Rachel Lee, PhD, Texas Department of State Health Services

Establishing High Performance Analyte Cutoffs in Metabolic Disorders Screened by Mass Spectrometry Through Understanding of False Negative Risk
- Konstantinos Petritis, PhD, Arizona State Public Health Laboratory

Concurrent Sessions

Short-term and Long-term Follow-up 2 – Emerging Conditions (Get Ready!)
Moderators – John Thompson, PhD, Washington State Public Health Laboratories and Sara Denniston, BS, Oregon State Public Health Laboratory

Low Citrulline in Newborn Screening Specimens: The Proximal Urea Cycle Defects and Beyond
– Inderneel Sahai, MD, New England Newborn Screening Program

Missouri's Full Population Pilot Screening for Fabry Disease and the Implications for Families
– Jami Kiesling, BSN, Missouri State Public Health Laboratory

Developing a Newborn Screening Follow-up Framework for Pompe Disease
– Sarah Bradley, MS, New York State Department of Health

Developing Short- and Long-term Follow-up for X-linked Adrenoleukodystrophy
– Beth Vogel, MS, New York State Department of Health

Diagnostic Follow-up of 41 Infants with a Positive Newborn Screen for Hurler Syndrome (MPS-I): Identification of Four Recurrent  IDUA Sequence Changes that Significantly Reduce Enzyme Activity
– Laura Pollard, Greenwood Genetic Center

QA/QC 2 – Strategies to Reduce False Positives and False Negatives (Part 2)
Moderators – Patricia Hunt, Texas Department of State Health Services and Bob Currier, California Department of Public Health

Variant MSUD: A Strategy to Increase Detection Through Newborn Screening
– Ashleigh Ragsdale, MPH, Washington State Public Health Laboratories

Analysis of False Positive and False Negative MSUD Cases: Using Age Specific Cutoffs to Reduce Both
– Mary Seeterlin, PhD, Michigan Department of Community Health

Quality Improvement of Follow-up Strategies Using Region 4 Post Analytical Tools to Evaluate VLCADD and CACT/CPTII Newborn Screening Results
– Angela Wittnauer, BSN, Emory University

Retrospective Analysis of the Region 4 Post Analytical Tool and Confirmatory Testing for Long Chain Fatty Acid Oxidation Disorders Screened in the State of Iowa
– Alvaro Serrano Russi, MD, University of Iowa Hospitals and Clinics

The Compelling Benefits of Routine Second Newborn Screens: A Fifteen-Year Review in Washington State
– Caroline Nucup-Villaruz, MD, Washington State Public Health Laboratories​

Session 4 – Financial, Legal, Ethical, Policy and Social Implications (FLEPSI)
Moderators – Mark McCann, Minnesota Public Health Laboratory Division and Susan Tanksley, PhD, Texas Department of State Health Services

Feasibility of a Population Based Newborn Screening Study for Spinal Muscular Atrophy in Colorado
– Joshua Miller, MPH, Colorado School of Public Health

Economic Evaluation for SCID Screening: Methods on Cost-Effectiveness Analysis and Budget Impact Analysis
– Kee Chan, PhD, Boston University

Review of Best Practices in Documenting Newborn Screening Refusals for States
- Jeremy Penn, PhD, North Dakota State University

Impact of Lawsuit Settlement and Recent Legislation to the Minnesota Newborn Screening Program
– Carrie Wolf, MBS, Minnesota Department of Health

Session 5 – Health Information Technology
Moderators – Robin Thomas, RN, California Department of Public Health and Patricia Scott, MT(BT), Delaware Public Health Laboratory

Newborn Screening for CCHD – The First Six Months of Data Reporting in Michigan Using Multiple Electronic Options
– Kristy Tomasko, BS, Michigan Department of Community Health

CCHD Screening: Screening Interpretation and Data Sharing Between Providers and Public Health to Improve Outcomes
– Annamarie Saarinen, Newborn Foundation | Coalition 
- Lura Daussat, MPH, OZ Systems

Improving Short- and Long-term Follow-up Efficiency Through Implementation of an Internet Case Management System
- Beth Vogel, MS, New York State Department of Health

Performance Feedback and Proactive Alerts from the BORN Ontario Registry have Contributed to More Comprehensive and Timely Newborn Screening
– Jennifer Milburn, MHA, Newborn Screening Ontario, Canada

NewSTEPs Data Repository: A Resource for the Newborn Screening Community
– Careema Yusuf, MPH, Association of Public Health Laboratories​

Wednesday, October 29

Roundtables

Cost-Effectiveness of Screening for Severe Combined Immunodeficiency (SCID)
- Yao Ding, Association of Public Health Laboratories

Supplemental Findings from Newborn Screening? Where Do We Stand?
– Marci Sontag, PhD, University of Colorado, Denver

Session 6 – Teach and Preach: Education Initiatives

Moderators – Natasha Bonhomme, Genetic Alliance and Amy Gaviglio, MS, CGC, Minnesota Public Health Laboratory Division

The State of Newborn Screening Systems in the US
- Marci Sontag, PhD, University of Colorado, Denver

What Parents Want to Know about the Storage and Use of Residual Newborn Bloodspots
– Erin Rothwell, PhD, The University of Utah

Developing and Maintaining Parent Fact Sheets for Newborn Screening: A Decade of Multi-State Collaboration
– Sylvia Mann, MS, Hawaii Department of Health

A Comprehensive Resource for US Newborn Screening Programs:  NewSTEPs Year Two
– Sikha Singh, MHS, PMP, Association of Public Health Laboratories

Session 7 – Newborn Screening:  Personal Experiences - Parent/Patient Panel
Moderators – Leslie Gaffney, California Department of Public Health and Jelili Ojodu, MPH, Association of Public Health Laboratories
- Jordann Coleman (parent of child with MSUD)
- Idario Santos (parent of child with MSUD)
- Stephanie Scott (parent of child with Galactosemia)
- Brianna Capers (patient with Sickle Cell disease)

Session 8 – Candidate Conditions
Moderators – Joan Scott, MS, CGC, Health Resources Services Administration and Scott Shone, PhD, New Jersey Division of Public Health & Environmental Laboratories

New York's Experience: Summary of the First Four Months of ALD Screening
– Joseph Orsini, PhD, New York State Department of Health

Missouri's Experience with Full Population Pilot Screening for Pompe, Gaucher, Fabry and Hurler Disorders Using Digital Microfluidics Methodology
– Patrick Hopkins, BS, Missouri State Public Health Laboratory

Enzymatic Assays for Newborn Screening of Mucopolysaccharidoses with Improved Performance
– Michael Gelb, PhD, University of Washington

A 3 Year Pilot Study for Guanidinoacetate Methyltransferase (GAMT) Deficiency in British Columbia
– Graham Sinclair, PhD, University of British Columbia, Canada

Session 9 – Point of Care for Critical Congenital Heart Disease (CCHD)

Moderators – Julie Luedtke, BS, Nebraska Department of Health and Human Services and Brad Therrell, PhD, National Newborn Screening & Genetics Resource Center

Implementing Universal Pulse Oximetry Screening: From Pilot to Policy to Practice
- Amy Gaviglio, MS, CGC, Minnesota Public Health Laboratory Division

CCHD Screening in Maryland - Year 1 Results
– Debbie Badawi, MD, Maryland Department of Health and Mental Hygiene

Exploring False Negative Pulse Oximetry Screens to Improve Critical Congenital Heart Disease Detection
– Lisa Hom, RN, Children’s National Medical Center

Modification of Critical Congenital Heart Disease Screening Practices at Moderate Altitude
 – Marci Sontag, PhD, University of Colorado, Denver

Critical Congenital Heart Disease Resource Center
– Thalia Wood, MPH, Association of Public Health Laboratories​

Thursday, October 30

Session 10 – International Perspectives
Moderators – Joanne Mei, MD, Centers for Disease Control and Prevention and Issam Khneisser, MS, MBA, St. Joseph University, Lebanon

A Pilot Study on an Expanded Newborn Screening Program in Palestine, Phase II
– Samir Katib, PhD, Al-Quds University Medical School, Palestine

Congenital Hypothyroidism Detected In Newborn Screening:  A 3-Year Data from a Tertiary Care Centre in India
– Sumaira Khalil, DNB, Maulana Azad Medical College & Associated L N Hospital, India

Screening for Critical Congenital Heart Disease: Global Implementation Efforts
 – Gerard Martin, MD, Children’s National Medical Center

Further Expansion of Newborn Screening in European Countries:  Horse Carriages vs Bullet Trains
– Gerard Loeber, PhD, International Society for Neonatal Screening

Session 11 – No Time to Lose: Re-assessing Timeliness
Moderators – Carla Cuthbert, PhD, Centers for Disease Control and Prevention and Patrice Held, PhD, Wisconsin State Laboratory of Hygiene

Timeliness of Newborn Screening – Secretary's Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) Guidance to Newborn Screening Systems
– Susan Tanksley, PhD, Texas Department of State Health Services

On Time/Every Time: A Partnership of Safety and Reliability for Newborn Screening
– Kathy Tomashitis, MNS, South Carolina Department of Health and Environmental Control

Improving Newborn Screening Program: A Systematic Approach
– Mei Baker, MD, Wisconsin State Laboratory of Hygiene

Achieving Dramatic Improvements in Sample Transit Time – The Arizona Model
– Celia Nabor, MPA, Arizona Department of Health Services

Utilizing Windows of Opportunity: Washington State's Response to the Milwaukee Journal Sentinel
– John Thompson, PhD, Washington State Public Health Laboratories

Leveraging the Attention – How Texas Took Advantage of Heightened National Awareness to Expedite Ongoing Quality Improvement Efforts
- Brendan Reilly, BS, Texas Department of State Health Services

Improving Quality Indicators Associated with Specimen Collection and Transport
– Scott Shone, PhD, New Jersey Division of Public Health and Environmental Laboratories

Proceedings

Oral Abstracts

Poster Abstracts

Poster Winner and Honorable Mentions

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