​The 2017 APHL Newborn Screening and Genetic Testing Symposium featured presentations drawn from submitted abstracts from around the world, and included invited oral presentations, poster sessions, exhibits, a Meet the Manufacturers session, awards luncheon, welcome reception, off-site social and tour of the L​​ouisiana 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, clinical outcomes, short and long-term follow-up and quality assurance/quality control.

Sunday, September 10

Roundtables

Navigating the Legal, Policy, and Ethical Landscape of Adding Conditions to the State Newborn Screening Panel
Kimberly Piper, RN, BSN, CPH, CPHG, Iowa Department of Public Health

Working with Advocates: Breaking Down Barriers and Building Bridges
Amy Gaviglio, MS, CGC, Minnesota Public Health Laboratory Division

Welcome Session

Moderators: Cheryl Harris, MPH, Louisiana Department of Health & Patrick Hopkins, Missouri State Public Health Laboratory

Speakers: Melinda Richard, Deputy Assistant Secretary, Louisiana Department of Health & Jelili Ojodu, MPH, Association of Public Health Laboratories

Session 1: Current Recommended Uniform Screening Panel (RUSP) Conditions in State Newborn Screening Panels

Moderators: Joanne Mei, PhD, Centers for Disease Control and Prevention & Eric Blank, DrPH, Association of Public Health Laboratories

Detecting and Reporting Alpha Thalassemia in Newborns
Tim Davis, Washington State Public Health Laboratory

Connecticut’s Experience with Validation and Screening for X-linked Adrenoleukodystrophy Using a Negative Ion-Mode LC-MS/MS Analysis Method
Adrienne Manning, Connecticut Department of Public Health Laboratory

Newborn Screening for Pompe Disease in New York State Identifies a Wide Spectrum of Variants in the GAA Gene
Colleen Stevens, PhD, New York State Department of Health

Newborns with Hypoxic Ischemic Encephalopathy Treated with Therapeutic Hypothermia Have Elevated TSH Levels on Newborn Screening
Richard Parad, MD, MPH, Brigham and Women's Hospital

Session 2: Quality Improvement & Assurance Activities in Newborn Screening

Moderators: Patrick Hopkins, Missouri State Public Health Laboratory & Patricia Hunt, Texas Department of State Health Services

Implementation of a New Electronic Shipping System to Improve Timeliness
Scott Shone, PhD, RTI International

Infographics and Outreach Used to Improve Newborn Screening Timeliness
Ashley Comer, State Hygienic Laboratory at the University of Iowa

SCID Screening and Diagnostic Uncertainty: The California Experience Since 2010
Stanley Sciortino, PhD, California Department of Public Health

Analyzing Patterns in NewSTEPs Site Review Recommendations:  The Big Picture for Newborn Screening Programs
Yvonne Kellar-Guenther, PhD, University of Colorado, Denver

The Relationship Between Newborn Screening Unsatisfactory Specimens and Unsatisfactory Results
Miriam Schachter, PhD, New Jersey Department of Health

Keynote Session

The Big Picture for Population Screen​ing: Lessons from Leaders
Moderator: Susan Tanksley, PhD, Texas Department of State Health Services

Session 3: Past, Present & Future Newborn Screening Conditions

Moderators: Rodney Howell, MD, University of Miami & Michele Caggana, ScD, FACMG, New York State Department of Health

Removing Short-chain Acyl-CoA Dehydrogenase Deficiency and Isobutyryl-CoA Dehydrogenase Deficiency from the Newborn Screening Panel: Michigan’s Experience
Kristy Karasinski, MPH, Michigan Department of Health and Human Services

Development of a Multiplex Real-time PCR Newborn Screening Assay to Simultaneously Identify Spinal Muscular Atrophy, Severe Combined Immunodeficiency, and X-linked Agammaglobulinemia
Mei Baker, MD, FACMG, Wisconsin State Laboratory of Hygiene

Implementation of Newborn Screening for Duchenne Muscular Dystrophy (DMD)
Michele Lloyd-Puryear, MD, PhD, Parent Project Muscular Dystrophy

Congenital CMV – A Pilot Study
Maggie Dreon, MS, CGC, Minnesota Department of Health​


 

Monday, September 11

Joint Follow-up and Quality Assurance/Quality Control Session: Cut-offs

Moderators: Adrienne Manning, Connecticut Department of Public Health Laboratory & Mike Ramirez, State Hygienic Laboratory at the University of Iowa

A False Negative CPTII Case: Using the (C16+C18:1)/C2 Ratio to Improve both FN & FP Metrics
Mary Seeterlin, PhD, Michigan Department of Health & Human Services

Impact of Post-analytical Interpretive Tools on Newborn Screening for Three Lysosomal Disorders: First Year Prospective Experience in Kentucky
Dietrich Matern, MD, PhD, Mayo Clinic

Comparison of Traditional Fixed Cutoffs to Use of Collaborative Laboratory Integrated Reports (CLIR) Tools in Screening for Pompe Disease and Krabbe Disease
Joseph Orsini, PhD, New York State Department of Health

North Carolina Mucopolysaccharidosis Type I (MPS I) Pilot Study: Screening for a Single Lysosomal Storage Disorder
Jennifer Taylor, PhD, RTI International

Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance
Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa

Jo​int Follow-up and Quality Assurance/Quality Control Session: Timeliness in Newborn Screening

Moderators: Inderneel Sahai, MD, New England Newborn Screening Program & Sara Denniston, Oregon State Public Health Laboratory

Partnering with a University Data Science Department to Develop Innovative Tools for the Analysis and Reporting of Newborn Screening Data
Rhonda West, Virginia Division of Consolidated Laboratory Services

It’s Time to be On Time
Sulay Rivera, PhD, MS, Puerto Rico Newborn Screening Program

The Impossible is Possible: Improving Timeliness in Alaska's Newborn Bloodspot Screening
Sabra Anckner, Alaska State Division of Public Health

Towards Improved Timeliness, Accuracy, and Operational Efficiency: Utah Newborn Screening Program’s Journey
Andreas Rohrwasser, PhD, MBA, Utah Department of Health

CQI Texas: Improving Timeliness through a Systematic Investigation of Process Workflows
Brendan Reilly, Texas Department of State Health Services

Session 4: Follow-up Activities in Newborn Screening

Moderators: Carol Johnson, University of Iowa Hospitals and Clinics & John Thompson, PhD, MPH, MPA, Washington State Public Health Laboratories

High Presumptive Positive Rates in Neonatal ICU Babies: The Texas Experience and How to Fix It!
Lori Fitzgerald, MSN, Texas Department of State Health Services

North Carolina Mucopolysaccharidosis I (MPS I) Pilot Study: How Incorporating Sequencing Data Impacts Follow-up
Lisa Gehtland, MD, RTI International

An Update on Newborn Screening for Adrenoleukodystrophy in New York State: A Review of Management Protocol Changes and Confirmed Cases
Beth Vogel, MS, CGC, New York State Department of Health

Long-Term Follow-Up of Sickle Cell Disease in California
Patricia McLendon, MPH, California Department of Public Health

Session 5: Financial, Legal, Ethical, Policy and Social Implications (FLEPSI)

Moderators: Richard Olney, MD, MPH, California Department of Public Health & Sue Berry, MD, University of Minnesota

Benefit-Cost Analysis for Adding Newborn Screening for X-linked Adrenoleukodystrophy
John Thompson, PhD, MPH, MPA, Washington State Public Health Laboratory

Development of a State Condition-readiness Tool for Disorders Not on the Recommended Uniform Screening Panel
Kristy Karasinski, MPH, Michigan Department of Health and Human Services

Updating the National Newborn Screening Contingency Plan to Facilitate Preparedness for Newborn Screening
Scott Shone, PhD, RTI International

A Systematic Review of the Research Uses of Residual Newborn Screening Dried Blood Spots: A Scoping Protocol
Erin Rothwell, PhD, CTRS, University of Utah

Equality and Equity in Newborn Screening
Amy Gaviglio, MS, CGC, Minnesota Department of Health & Aaron Goldenberg, PhD, Case Western Reserve University​​​​

 

Tuesday, September 12

Roundtables​

Is a Voluntary Panel of Non-RUSP Conditions a Viable Future for Newborn Screening?
Don Bailey, PhD, RTI International

What’s Next? Follow Up on Best Practices from the Beyond the Bloodspot: Education and Engagement Summit
Jackie Seisman, MPH, Genetic Alliance

Newborn Screening for Alpha Thalassemias
M. Christine Dorley, MSP, BS, MT(ASCP), Tennessee Department of Health

Session 6: International Perspectives in Newborn Screening

Moderators: Brad Therrell, PhD, National Newborn Screening and Global Research Center & Enzo Ranieri, PhD, Women’s and Children’s Hospital, Australia

Neonatal Screening of Duchenne Muscular Dystrophy In Zhengjiang, China
Guilig Qian, Zhejiang University School of Medicine, China

Timeliness of Newborn Screening Activities in the Mindanao Region
Conchita Abarquez, MD, DPPS, Southern Philippines Medical Center, the Philippines

The Importance of Partnerships - Strengthening Newborn Bloodspot Screening in Victoria, Australia
Rebecca Doherty, Victorian Department of Health and Human Services, Australia

Preparing to Expand the National Newborn Bloodspot Screening Program in the Netherlands with Fourteen Conditions
Marleen Jansen, PhD, National Institute for Public Health and the Environment, the Netherlands

Screening on X-ALD in the Netherlands: An Ethical Perspective
Eugenie Dekkers, National Institute for Public Health and the Environment, the Netherlands

Session 7: Communicating with Families and the Public

Moderators: Natasha Bonhomme, Genetic Alliance & Amy Gaviglio, MS, CGC, Minnesota Department of Health

MinneStories: The Importance of Newborn Screening Storytelling
Sondra Rosendahl, M​S, CGC, Minnesota Department of Health

Improving Communication of Negative Newborn Screening Results
Whitney Thompson, University of Minnesota

Assessing Parental Attitudes about Newborn Screening for Late Onset Disorders​
Sylvia Mann, MS, CGC, Western States Genetic Services Collaborative

Redefining Public Engagement in Newborn Screening and its Impact on Education and Policy
Aaron Goldenberg, PhD, Case Western Reserve University

Session 8: Parent/Patient Panel

Moderators: Hans Andersson, MD, Hayward Genetic Center & Jackie Seisman, MPH, Genetic Alliance

Speakers:

  • Kevin Alexander, PKULife.tv (patient with Phenylketonuria)
  • Jessica Smart (parent of child with late-onset Pompe disease) 
  • Allison Wood (parent of child with Glutaric Acidemia, Type 1)
Session 9: Health Information Technology

Moderators: Brendan Reilly, Texas Department of State Health Services & Willie Andrews, Virginia Division of Consolidated Laboratory Services

Understanding an HL7 Implementation Guide – A Primer on IT Nerd-dom for Newborn Screening Nerds
Brendan Reilly, Texas Department of State Health Services

Challenges and Benefits of Implementing Electronic Messaging in Newborn Screening Laboratories
Ashleigh Ragsdale, MPH, Washington State Public Health Laboratory

Baby’s First Message: Next Steps and Lessons Learned After Achieving Statewide Implementation of Electronic Demographics and Point-of-Care Result Reporting
Amy Gaviglio, MS, CGC, Minnesota Department of Health

 ​

Wednesday, September 13

Session 10: Molecular Technology in Newborn Screening

Moderators: Travis Henry, PhD, State Hygienic Laboratory at the University of Iowa & Rachel Lee, PhD, Texas Department of State Health Services

A Targeted Next Generation Sequencing (tNGS) Screening Assay for Menkes Disease and its Implications for Primary DNA-based Newborn Screening
Richard Parad, MD, MPH, Brigham and Women's Hospital

Design and Validation of a 2nd Tier Next Generation Sequencing (NGS) Panel for Newborn Screening for Severe Combined Immunodeficiency Disease
Colleen Stevens, PhD, New York State Department of Health

Implementing Next Generation Sequencing as a Third-Tier Newborn Screen for Cystic Fibrosis in New York State
Denise Kay, PhD, New York State Department of Health

Challenges of Severe Combined Immunodeficiency Screening in a Two Screen State​
Adam Coleman, PhD, Maryland Laboratories Administration

Session 11: Spinal Muscular Atrophy

Moderators: Art Hagar, PhD, Georgia Public Health Laboratory & Colleen Stevens, PhD, New York State Department of Health

Newborn Screening for Spinal Muscular Atrophy: Current and Alternative Assay Methods
Kristina Mercer, MD, MPH, Centers for Disease Control and Prevention

Evaluation of Multiplexing Spinal Muscular Atrophy Identification with a Laboratory-developed Severe Combined Immunodeficiency Assay in Minnesota
Carrie Wolf, MBS, Minnesota Department of Health

Spinal Muscular Atrophy Screening in New York State: Feasibility and Prospective Pilot Study
Denise Kay, PhD, New York State Department of Health

Clinical Challenges of Providing Nusinersen for Spinal Muscular Atrophy and the Implications for Newborn Screening
Jennifer Kwon, MD, MPH, FAAN, University of Rochester Medical Center