2021 Newborn Screening Virtual Symposium

​​​​​​​​​​​​​​​​​​​​​​​​​​​​Day 1 - Tuesday, October 5

​​12:00 - 2:00 pm ET | Welcome & Keynote Session: Avoiding Health Disparities: Does Newborn Genome Sequencing Bridge or Widen the Gap?​

​​This session will begin with an overview of health disparities and then move on to the advantages and disadvantages of genome sequencing in the context of newborn screening. It will conclude with a discussion on the ethical and social implications of sequencing and how emerging technologies has forced us to think critically about equity in newborn screening.


  • Michele Caggana, ScD, FACMG, New York State Department of Health/Wadsworth Center
  • Richard Olney, MD, MPH, California Department of Public Health


  • Marsha Treadwell, PhD, Professor, University of California, San Francisco
  • Priya Parikh, MD, University of California, San Francisco
  • Stephen Kingsmore, MD, DSc, President and Chief Executive Officer, Rady Children’s Institute for Genomic Medicine 
  • Robert C. Green, MD, MPH, Professor of Medicine (Genetics), Harvard Medical School
  • Lainie Friedman Ross, MD, PhD, Carolyn and Matthew Bucksbaum Professor of Clinical Medical Ethics, University of Chicago

​2:30 - 4:00 pm ET | Current Recommended Uniform Screening Panel (RUSP) Conditions in State Panels ​

​This session will examine methods of testing in various states for disorders on the current RUSP, including X-linked Adrenoleukodystrophy (X-ALD), Pompe disease, Mucopolysaccharidosis type I (MPS-I), as well as those not on the RUSP including Gaucher and Fabry.


  • Alisha Keehn, MPA, Health Resources and Servic​es Administration
  • Jillian Chance, BSN, RN, Nebraska Division of Public Health


  • ​Screening for X-linked Adrenoleukodystrophy in Texas, A Two-Screen State
    Patricia Hunt, BA, Texas Department of State Health Services
  • X-ALD, Pompe Disease and MPS-I Screenings with One Dried Blood Spot: A Tour de Force
    Nicolas Szabo, PhD, Utah Public Health Laboratory
  • Comparison of Screening for Four Lysosomal Storage Disorders (Pompe, MPS1, Gaucher and Fabry) Versus Two (Pompe and MPS-1) on the Baebies SEEKER Platform
    Melanie Kessler-Mathieu, MS, PhD, Kansas Department of Health and Environment Laboratory​
  • Precision Newborn Screening for Lysosomal Disorders and Adrenoleukodystrophy — An Update from Kentucky and Mayo Clinic
    Dietrich Matern, MD, PhD, Mayo Clinic
  • Beyond the PKU Test: A Tool to Explore Rare Genetic Diseases in Newborn Screening
    Amy Brower, PhD, American College of Medical Genetics and Genomics

5:00 - 6:30 pm ET | Emergency Preparedness ​

​​This session will explore the impact that emergencies have on newborn screening programs, and how hospital staff, parents and newborn screening staff are prepared to handle these cases through education and creative problem solving.


  • Scott Shone, PhD, HCLD(ABB), North Carolina State Laboratory of Public Health
  • Brendan Reilly, BS, Texas Department of State Health Services


  • Born to Run… An Explosive Account of Christmas Day!
    M. Christine Dorley, PhD, MT(ASCP), Tennessee Department of Health: Laboratory Service
  • Educating Hospital Staff About Newborn Screening During a Pandemic: Michigan’s Experience
    Mary Kleyn, MS, Michigan Department of Health and Human Services
  • Thinking Outside of the Box: Educating Parents About Newborn Screening During a Pandemic
    Kristen Thompson, MPH, Michigan Department of Health and Human Services
  • Impact of COVID-19 on Time to Case Closure of Time Critical Disorders
    Sarah Bradley, MS, CGC, New York State Department of Health

​Day 2 - Wednesday, October 6​

​12:00 - 1:00 pm ET | Around the World in 60 Minutes​

​This session will summarize the state of newborn screening around the world, with an emphasis on modernization and neonatal screening developments in Europe, the Netherlands and the United States.


  • ​The State of Newborn Screening Systems in the United States in 2021
    Sikha Singh, MHS, PMP, Association of Public Health Laboratories
  • Neonatal Screening Developments in Europe — An ISNS Report
    Peter Schielen, PhD, International Society for Neonatal Screening
  • Evaluation of the First 18 Months of Screening for PA and MMA in The Netherlands: The Findings Are Not as Expected
    Rose Maase, PhD, C(ASCP), MRSC, National Institute for Public Health and the Environment  (RIVM)
  • Modernizing Newborn Screening to Prepare for a New Generation of Transformative Therapies
    Don Bailey, PhD, RTI International

1:30 - 2:30 pm ET | Adoption and Use of Second-tier Testing

​This session will evaluate second-tier testing as it relates to timeliness for screening of cystic fibrosis, clinical follow-up to prevent delays and better understand the rate of false positives to bring about improvements. 


  • Glycosaminoglycan Analysis in Dried Blood Spots: A Critical Second-stage Step in Newborn Screening for MPS-I and Related Disorders
    Michael H. Gelb, PhD, University of Washington
  • Wisconsin Redesign of Clinical Follow-up Algorithm Based on Introduction of Second-tier Testing
    Jessica Scott Schwoerer, MD, University of Wisconsin
  • A Review of Timeliness of Cystic Fibrosis Diagnosis Post-implementation of Second-tier Testing
    Marina Choi, MPH(c), Washington State Department of Health
  • Ten Years of Sending Second Tier Testing for Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin Disorders and the Lessons Learned
    Shawn Moloney, MPH, Michigan Department of Health and Human Services

​​​3:30 - 5:00 pm ET | Conditions Under Consideration for Addition to State Panels

This session will examine various disorders including Guanidinoacetate methyltransferase (GAMT) deficiency, Duchenne muscular dystrophy (DMD) and Ornithine transcarbamylase (OTC) deficiency in order to determine whether they should be added to state panels.​


  • Infant with Guanidinoacetate Methyltransferase Deficiency Identified Through Newborn Screening
    Kim Hart, MS, CGC, Utah Department of Health
  • Identification of an Infant with Guanidinoacetate Methyltransferase (GAMT) Deficiency via Universal Newborn Screening in New York State
    Denise M. Kay, PhD, New York State Department of Health
  • A Consented Pilot Study in New York State to Screen Newborns for Duchenne Muscular Dystrophy
    Norma P. Tavakoli, PhD, New York State Department of Health
  • Early Check Implementation of Newborn Screening for Duchenne and Related Muscular Dystrophies in North Carolina
    Katerina Kucera, PhD, RTI International
  • Newborn Screening of Duchenne Muscular Dystrophy Specifically Targeting Deletions Amenable to Exon-skipping Therapy
    François Boemer, PhD, CHU Liege, Belgium
  • Considering Ornithine Transcarbamylase Deficiency for Mandatory Newborn Screening
    Michael Katsuyama, MPHc, Washington State Department of Health

​​5:30 - 6:30 pm ET | Conversations Around Newborn Screening 

This session will feature two presentations delving into the more controversial side of newborn screening. The first will question whether very rare disorders can—and should—be screened for, while the second will discuss the emerging issue of Neonatal Abstinence Syndrome (NAS) in maternal and child health.


  • ​Guisou Zarbalian, MS, MPH, Association of Public Health Laboratories


  • Some Disorders May Be Too Rare To Be Part of Newborn Screening
    Robert Currier, PhD, University of California, San Francisco
  • Exploring the Role of Laboratory Data in Neonatal Abstinence Syndrome (NAS) Surveillance — An Open Dialogue
    Ewa King, PhD, Rhode Island State Health Laboratories​

Day 3 - Thursday, October 7

​​​12:00 - 1:30 pm ET | Health Information Technology (HIT)

​This session will evaluate how methods of technology including electronic test orders and results reporting (ETOR), common data models (CDMs) and other health commerce systems can create positive solutions for programs facing challenges with data transfer, analytics, quality improvement and communication. 


  • ETOR: A Review of Capabilities and Needs
    Willie Andrews, BSMT(ASCP), J Michael Consulting​
  • ETOR: A Path Forward
    Dari Shirazi, Association of Public Health Laboratories
  • Using a Newborn Screening Common Data Model: Implications for Data Transfer and Analytics
    Amy Gaviglio, MS, CGC, CDC/APHL/Expecting Health
  • Newborn Screening Hospital Quality Improvement and Communication Application Portal in New York State Health Commerce System
    Kathy Chou, PhD, New York State Department of Health
  • Assistance to Newborn Screening Programs to Develop an Interoperability Plan
    Craig Newman, PhD, Altarum
  • Understanding Parental Frustrations of NBS Paves Way for Technological Solutions
    Karen Eilbeck, PhD, University of Utah

2:00 - 3:00 pm ET | Follow-up

This session will explore ways that newborn screening programs are improving followup practices and creating better tools for 

communicating with different parent communities.


  • Closing the Gap: Improving Critical Congenital Heart Disease (CCHD) Screening Reporting Rate Among the Homebirth Community
    Kristen Thompson, MPH, Michigan Department of Health and Human Services
  • Beyond the Fax Machine: Development of a REDCap Tool to Improve Communication on MPS1 2nd Tier Sequencing Results and Decrease Referrals to Genetics
    Christen F. Crews, MSN, RN, Virginia Department of Health
  • Interim Results of a Survey Examining the Experiences of Parents After Receiving Newborn Screening Results
    Anne E. Atkins, MPH, Children’s National Hospital

3:30 - 4:45 pm ET | Training and Education​

This session will explore improvements and developments to education and communication with the aim of creating a better system of care for all newborn screening stakeholders.​​


  • Building Prenatal Providers’ Capacity to Educate Expectant Mothers About Newborn Screening: Results from Iowa’s OTTER Project
    Jeremy D. Penn, PhD, MPH, University of Iowa College of Education
  • Navigating the Digital Age: Creating Animated Videos for Families to Learn About SCID
    Jamie Loey, MPH, Expecting Health
  • ​All for One, Not One for All - Developing and Implementing a Multifaceted Approach to NBS Education Equitable Access to Newborn Screening Education
    Marianna H. Raia, MS, CGC, Expecting Health
  • Experiences of Uncertainties Among Parents of Children Diagnosed with SCID Through Newborn Screening
    Melissa Raspa, PhD, RTI International
  • Beyond the Screen: Into a System of Care
    Molly Martzke, Expecting Health

Day 4 - Tuesday, October 12

​9:45 - 11:00 am ET | ISNS Session ​

The International Society for Neonatal Screening is proud t​o offer a dedicated ISNS session as part of the APHL 2021 Newborn Screening Symposium.


  • Introduction and ISNS Activity 2021
    Prof James Bonham, UK ​
  • CDC QC materials for TSH
    Dr. Joanne Mei, USA
  • FCC/ISNS Global Task Force to Develop NBS
    Dr. Dianne Webster, New Zealand
  • Impact of COVID-19 on NBS Worldwide
    Dr. Urh Groselj, Slovenia
  • NBS for SCID and the Power of Virtual Meetings
    Dr Peter Schielen, Netherlands
  • Closing Remarks
    Prof James Bonham, UK

​​12:00 - 1:00 pm ET | Concurrent Roundtables

The Many Hats of Newborn Screening Bioinformaticians 

This roundtable will feature bioinformaticians and fellows from New York, Texas and Virginia who will demonstrate the spectrum of projects that a bioinformatician can conduct to streamline laboratory algorithms and positively impact babies at a clinical level. It will also discuss the various roles of bioinformaticians within the NBS laboratory, and their potential for helping other programs expand data analytics capabilities.​


  • Gretchen Cote, MS, Virginia Division of Consolidated Laboratory Services

​What's in a Word? Discussing Language in Newborn Screening

​This roundtable will examine how the language used in different aspects of newborn screening has changed throughout the years, and how improvements can be made as the system evolves. A discussion will be had on how the terms used in newborn screening services and education specifically impacts families and their understanding of the newborn screening system.


  • Brianne Miller, MPH, Expecting Health / Children’s National Hospital

​1:30 - 3:00 pm ET | Public Engagement​

This session will explore how outreach to newborn screening stakeholders through social media, research studies, and other methods of engagement can create positive impacts for recruitment, screening implementation and parental communication.


  • ​​Lani Culley, MPH, Washington State Department of Health
  • Fran Altmaier, BSW, Arizona Department of Health Services


  • Bringing Together All Newborn Screening Stakeholders
    Dylan Simon, MS, EveryLife Foundation for Rare Diseases​
  • Cure SMA Outreach to Facilitate Spinal Muscular Atrophy Newborn Screening Implementation
    Mary Schroth, MD, Cure SMA
  • Use of Social Media Ad Campaigns to Inform Parents and Enroll Newborns in the Early Check Expanded Newborn Screening Research Study
     Jessica Pikowski, MA, RTI International
  • High and Low-tech Recruitment Strategies in Newborn Screening Research
    Brianne Miller, MPH, Expecting Health / Children’s National Hospital

​4:00 - 5:30 pm ET | Health Equity​

This session will feature a panel of four speakers who will examine equity and disparity as it relates to the newborn screening system and identify challenges in data availability and consider next steps for improvements. There will also be a presentation on the causes and solutions to under-documentation of hemoglobin traits to assure health equity, facilitate reliable communication with families, and ensure integrity of research.


  • Erica Wright, MS, CGC, Children’s Hospital Colorado/University of Colorado
  • Carla Cuthbert, PhD, FACMG, Centers for Disease Control and Prevention


  • Exploring Equity Across the NBS System: From Discourse to Action (Panel)
    • ​Amy Gaviglio, MS, CGC, CDC/APHL/Expecting Health
    • Aaron J. Goldenberg, PhD, MPH, Case Western Reserve University 
    • Natasha Bonhomme, Expecting Health at Genetic Alliance 
    • Beth Tarini, MD, Children’s National Hospital 
  • Lack of Documentation of Sickle Cell Trait and Alpha Thalassemia Trait Within the Electronic Health Record: An Issue of Health Equity and Data Integrity
    Corinna Schultz, MD, Nemours/AI duPont Hospital for Children​​​​

6:30 - 7:30 pm ET | Newborn Screening Genetic Privacy Concerns Persist, Despite the Common Rule

This session will provide an overview of the case, Kanuszewski et. al. vs. Michigan Department of Health and Human Services, as well as potential implications of the initial court ruling in this case for newborn screening programs in general. The panel will also discuss how the newborn screening community can address genetic privacy concerns while ensuring that residual dried blood spots remain available for crucial newborn screening quality assurance and improvement purposes.


  • Aaron Goldenberg, PhD, MPH, Case Western Reserve University
  • Kimberly Noble Piper, RN, BS, CPH, CPHG, Iowa Department of Public Health​


  • Eric Hendricks, JD, Michigan Department of Health and Human Services

​​​Day 5 - Wednesday, October 13

12:00 - 1:00 pm ET | Data Analytics and​ Bioinformatics 

​​​This session will evaluate how data analytics and bioinformatics can address challenges to newborn screening programs, specifically as they relate to improving screening for X-linked Adrenoleukodystrophy (X-ALD), Congenital Adrenal Hyperplasia (CAH) and newborn screening DNA sequencing efforts.


  • Using Models to Address Challenges in Newborn Screening Expansion
    Kee Chan, PhD, MBA, Newborn Screening Translational Research Network
  • Improving X-linked Adrenoleukodystrophy Screening Performance with Insight from Confirmatory Results
    Hao Tang, PhD, California Department of Public Health
  • Data-driven Approach to Revising Screening Cutoffs for Congenital Adrenal Hyperplasia
    Isabel Hurden, MPH, Michigan Department of Health and Human Services
  • Applying COVID-19 Next Generation Sequencing Bioinformatics Progress to Newborn Screening DNA Sequencing Efforts
    Samantha Marcellus, MPH, Texas Department of State Health Services

​2:00 - 3:00 pm ET | Quality Improvement and Assurance Activities 

This session will explore how quality improvement and assurance efforts can enhance timeliness and minimize the unintended consequences of newborn screening programs identifying infants who do not need medical attention.​


  • California Newborn Screening Specimen Tracking Quality Improvement Initiative
    Luis Cruz, California Department of Public Health
  • An Algorithm for Outlier Detection Based Upon the Correlation Between Gestational Age and Birth Weight
    Mary Seeterlin, PhD, Michigan Department of Health & Human Services
  • An Additional Analyte Ratio to Better Determine VLCAD Risk and Improve the Positive Predictive Value of the Screen
    Casey Guccione, Kansas Department of Health and Environment Laboratory​
  • Refinement of Newborn Screening for Cystic Fibrosis Process to Minimize Unintended Outcomes
    Mei Baker, MD, Wisconsin State Laboratory of Hygiene

​3:30 - 4:30 pm ET | Spinal Muscular Atrophy (SMA)

​​​This session will examine the implementation and results of initial screening for SMA in California, Illinois and Wisconsin, as well as evaluate the use of commercial reagents in positively affecting screening for SMA and Severe Combined Immunodeficiency (SCID).


  • Comparison of LDT and Commercial Multiplex Assays to Screen for SMA and SCID in Newborns
    Francis K. Lee, MSc, PhD, Centers for Disease Control and Prevention
  • SMA Newborn Screening: California’s First Year Experience
    Jamie Matteson, MPH, California Department of Public Health
  • Spinal Muscular Atrophy Screening: The Illinois Experience
    Vineet Dhiman, PhD, Illinois Department of Public Health
  • Incorporating SMN2 Copy Number Assessment in Routine Newborn Screening for Spinal Muscular Atrophy: The Wisconsin Experience
    Mei Baker, MD, Wisconsin State Laboratory of Hygiene

Day 6 - Thursday, October 14

​12:00 - 1:00 pm ET | Concurrent Roundtables

Transfusion Confusion: Managing Its Impact on Screening Results

​​​​This roundtable will outline best practices for accurate screening, detection and reporting of newborn screening results for disorders affected by RBC transfusion including hemoglobinopathy, biotinidase and galactosemia. A discussion of best practices for managing screening results for transfused newborns will also occur. 


  • Patrick Hopkins, Missouri State Public Health Laboratory

CDC’s Modernizing Newborn Screening Through Training and Data Analytic​​s​

​This roundtable will feature a presentation from CDC's Newborn Screening and Molecular Biology Branch (NBSMBB) regarding two online programs created to address concerns around the increasingly complex landscape of testing, training and data handling. A discussion on topics for future modules, such as current and emerging technologies, current and anticipated screened conditions, and policies and issues that impact practice will also occur.


  • Cynthia Hinton, PhD, MS, MPH, Centers for Disease Control and Prevention​​

1:30 - 3:00 pm ET | Case Studies​

This session will feature five presentations on unique cases and diagnostic dilemmas that have led newborn screening programs to examine current testing methodologies and outreach.​


  • Nathalie Lepage, PhD, Newborn Screening Ontario
  • Kimberly Noble Piper, RN, BS, CPH, CPHG, Iowa Department of Public Health


  • Off Target/Unknown Diagnosis Based on Newborn Screening Results
    Debra Freedenberg, MD, PhD, Texas Department of State Health Services
  • C3- Acylcarnitine: A Particularly Tricky Newborn Screening Metabolite. Diagnosis and Management for a Rarely Diagnosed Disorder
    Susan Berry, MD, University of Minnesota Department of Pediatrics 
  • X-linked Adrenoleukodystrophy in the Era of Newborn Screening: Cases on the Margin
    Christina Lam, MD, University of Washington and Seattle Children’s Hospital
  • Fatty Acid Oxidation Disorders: Two Atypical Cases Requiring Long-term Follow-up for Diagnostic Confirmation
    Neena Champaigne, MD, Medical University of South Carolina
  • Correct Case Classification in VLCAD Newborn Screening: Additional Evidence for Comprehensive Testing
    Amy Calhoun, MD, University of Iowa​​

4:00 - 6:00 pm ET | Parent/Patient Panel​

​This session will feature compelling personal accounts of how newborn screening impacts the lives of families. Follow their journeys from screening and diagnosis to treatment and management and discover the small but powerful community of parents of children with disorders detected by newborn screening.


  • Lisa Feuchtbaum, DrPH, MPH, California Department of Public Health
  • Tracey Bishop, BS, California Department of Public Health


  • Christina and Daniel Kettler
    Son Fitz (27 months) with Artemis SCID
  • ​Natalie and Eric Lamb
    Daughter Etta (12 months) with SMA
  • Diane and John Pytel
    Daughter Mia (15 years) with PKU
  • Nicholai and Alison Adler
    Son Lucas (3 ½ years) with asympomatic ALD​