2023 APHL and ISNS Newborn Screening Symposium

New Methodologies

This session will focus on how novel screening approaches can support and bolster newborn screening (NBS) programs. Programs which are limited in their ability to detect certain conditions have relied on innovative tests and treatments to continue to benefit patients. Discussions will focus on how NBS programs can confront limitations to detecting noncongenital and progressive forms of permanent hearing loss (PHL) and review diagnostic tests and treatments available for congenital disorders of glycosylation. Presenters will also address how quality of life can be improved for patients by examining the relationship between diagnosis and follow-up treatment and ways in which metabolomics can be used as a powerful tool in the expansion of screening for new disorders.

Moderators:

• Rajesh Sharma, PhD, California Department of Public Health
• Peter Schielen, PhD, International Society for Neonatal Screening
  

Speakers: 

• Province-wide Genomic Screening for Permanent Hearing Loss Risk: The First Three Years’ Experience in Ontario
  Lauren Gallagher, MS, Newborn Screening Ontario
  
  
• A Novel Dried Blood Sample (DBS) Based N-glycan Analysis Paves the Way for Newborn Screening of CDGs
  Ernest James Paul Daniel, MD, The Childrens’ Hospital of Philadelphia
  
  
• Acceleration in the Diagnostic Field of the Most Common Lysosomal Storage Diseases: A New Accurate and Robust Dried Blood Spots Screening Method
  Amber Van Baelen, PhD, University Hospital of Antwerp
  
  
• Newborn Screening for Peroxisomal Disorders Using Lipid Metabolomics
  Enzo Ranieri, MSc, PhD, FHGSA, FFSc(RCPA), Sydney Children’s Hospital at Westmead

10:30 am - 12:30 pm PST | Keynote: 60 Years of Screening: A Time to Celebrate and a Time to Reflect

Our keynote session will focus on the evolution of newborn screening (NBS) over the past 60 years, with speakers analyzing the strengths, weaknesses, threats and opportunities of the NBS system. The session will begin with a celebration of newborn screening through a discussion on the strengths of this public health initiative, including how screening has expanded internationally to treat more children and create a more equitable system. We will then examine the weaknesses, notably how the NBS community will need to address ‘uncertainty’ if it wants to continue to benefit families for the next 30 years. Next, we will dive into threats to NBS, focusing on the ethical issues around next-generation sequencing and its public perception, followed by the opportunities that genomic testing has as a public health program and for the future of NBS globally. 

Welcome:

• Tomás J. Aragón, MD, DrPH, California Department of Public Health
  

Moderators:

• Michele Caggana, ScD, FACMG, New York State Department of Health
• Graham Sinclair, PhD, FCCMG, British Columbia Children’s Hospital

Speakers: 

• Maurizio Scarpa, MD, PhD, Azienda Sanitaria Universitaria
• Jerry Vockley, MD, PhD, Children’s Hospital of Pittsburgh
• Robert Nussbaum, MD, Invitae
• Haydar A. Frangoul, MD, MS, Cellular Therapy at TriStar Centennial

2:00 - 3:30 pm PST | Concurrent Sessions

Short-term and Long-term Follow-up: Part 2

This session will focus on strategies that newborn screening (NBS) programs can pursue to create and enhance their long-term follow-up (LTFU) programs. Presentations will discuss efforts taken by multiple state programs to create care coordination modules, build a sustainable infrastructure to expand a patient registry for LTFU and identify strategies for obtaining LTFU data. Discussions will also be had surrounding treatments for children living with sickle cell disease (SCD) as part of their LTFU care. 

Moderators:

• Lisa Caton, MS, RN, Oklahoma State Department of Health
• Sarah Ward, BS, Nebraska Department of Health and Human Services

Speakers: 

• Progressing from Post-its to Production: North Dakota’s Experience in Building a Long-term Follow-up System for Newborn Screening
  Joyal Meyer, RN, MSN, North Dakota Health and Human Services
  
  
• Strengthen and Expand the Core Capacity of Long-term Follow-up Model System in New York
  Kathy Chou, PhD, New York State Department of Health
  
  
• Seven Years of X-linked Adrenoleukodystrophy Long-term Follow-up in California
  Jamie Matteson, MPH, California Department of Public Health
  
  
• The Tip of the Iceberg: Long-term Follow-up for Congenital Hypothyroidism
  Patricia Hall, PhD, Mayo Clinic
  
  
• Use of Hydroxyurea for Treatment of Sickle Cell Disease in Children Identified by Newborn Screening and in Long-term Follow-up Care in California
  Trish McLendon, MPH, California Department of Public Health

Data Analytics and Bioinformatics

This session will evaluate how data analytics and bioinformatics can help address challenges and create opportunities for newborn screening (NBS) programs. Presentations will focus on the ways in which data can become more harmonized and normalized between NBS programs and identify solutions by creating a national NBS data platform and data mining models to enhance collaborative efforts between programs worldwide. Recommendations for improving programmatic consistency and in turn interoperability will be discussed. The session will conclude with a look into the California Newborn Screening Program’s strategies to achieve NBS electronic transfer of orders and results.

Moderators: 

• Cindy Wu, PhD, California Department of Public Health
• Gretchen Cote, MS, Virginia Division of Consolidated Laboratory Services
  

Speakers: 

4:00 - 5:30 pm PST | Concurrent Sessions

Financial, Legal, Ethical, Policy and Social Implications (FLEPSI)

This session will describe the landscape of newborn screening (NBS) through the lens of financial, legal, ethical, policy and social issues. Presenters will consider the challenges and opportunities now facing NBS programs, including how racial and ethnic disparities in screening can lead to unnecessary burdens for both families and healthcare providers. Discussion will be had surrounding the importance of research and consent processes, the challenges inherent when determining the nomination of a condition for screening and actionable policy solutions that can be made to modernize the NBS system. The session will conclude with a look into the Michigan Newborn Screening Program’s efforts to enhance the equity of Critical Congenital Heart Disease (CCHD) screening. 

Moderators:

• Dianne Webster, PhD, Newborn Screening New Zealand
  
• Aaron Goldenberg, PhD, MPH, Case Western Reserve University
  

Speakers: 

• The Role of Race/Ethnicity in Evaluating Newborn Screening Performance
  Hao Tang, PhD, California Department of Public Health
  
  
• Implementation of a Broad Consent Education Tool for Retention of Newborn Screening Dried Bloodspots
  Erin Johnson, PhD, University of Utah
  
  
• What Benefits Should Be Considered in Newborn Screening Decisions?
  Don Bailey, PhD, RTI International
  
  
• Convening the Community to Identify Opportunities to Enhance Our Newborn Screening System: Action Items Yielding from the Newborn Screening Modernization Roundtable Series
  Dylan Simon, MS, EveryLife Foundation for Rare Diseases
  
  
• Increasing Equity of Screening for Critical Congenital Heart Disease (CCHD) Among Infants Born Out-of-Hospital
  Kristen Thompson, MPH, Michigan Department of Health and Human Services

Spinal Muscular Atrophy (SMA)

This session will focus on the strategies that newborn screening (NBS) programs implement in the screening for spinal muscular atrophy (SMA). Presentations will describe findings from a 2-year long-term follow-up (LTFU) program for children diagnosed with SMA and provide guidance to public health laboratories who use multiplexed qPCR as a first-tier screen for severe combined immunodeficiency (SCID) and SMA. The session will conclude with a look into how SMA testing is accomplished in NBS programs in Texas and New South Wales (NSW).

Moderators: 

• Raquel Yahyaoui, MD, PhD, Malaga Regional University Hospital
• Suzanne Cordovado, PhD, Centers for Disease Control and Prevention
  

Speakers: 

6:00 - 7:30 pm PST | The Next Frontier of Genetics and Privacy: Part Two

This session will feature discussions focused on newborn screening and its intersection with genetic privacy. Speakers will discuss implications for NBS consent processes in the aftermath of recent litigation, the use of residual dried blood spots in criminal investigations by law enforcement, the ethical considerations around sequencing of healthy newborns and sustainable measures to balance innovation with the protection of patient privacy. The session will include an interactive poll for the audience to react and provide thoughts to further the discussion.

Moderators:

• Amy Gaviglio, MS, CGC, Connetics Consulting/CDC/APHL
  
• Aaron Goldenberg, PhD, MPH, Case Western Reserve University
  

Speakers: 

• Crystal Grant, PhD, Former Technology Fellow, ACLU
• Megan Halley, PhD, MPH, Stanford University School of Medicine
• Dave Orren, JD, Minnesota Department of Health (ret.)
  

11:00 am - 12:30 pm PST | Plenary Session: The Development of Newborn Screening in Low- and Middle-Income Countries (continued)

In 2023, we celebrate 60 years of newborn screening (NBS). During that time, screening has grown and now offers early detection to almost 40 million babies around the world each year. Despite this success, this life changing intervention is not yet available to more than 100 million babies born annually in low- and middle-income countries. Learning from those with direct experience, this session will explore how we might support the growth of appropriate and well-organized screening in this setting. Our second session will focus on the experiences of programs in Africa, Latin America and India and will conclude with a look into the future of global neonatal screening. 

Moderator:

• Van Leung-Pineda, PhD, DABCC, Children’s Healthcare of Atlanta

Speakers: 

• Newborn Screening for Sickle Cell Disease in Africa
  Andrew Zapfel, MPH, American Society of Hematology
    
• Sickle Cell Disease in Ghana — The Role of Newborn Screening
  Solomon Ofori-Acquah, PhD, University of Ghana and University of Pittsburgh
    
• The Development of Newborn Screening in Latin America
  Gustavo Borrajo, PhD, Congenital Error Detection Program of the Argentine Biochemical Foundation of La Plata
    
• Screening for Inborn Errors as Part of Comprehensive Newborn Screening: Cost and Efficacy Improvement Strategies for Better Quality of Life for Children in LMICs
  Sreehari Madhavankutty Nair, MD, Indian Ministry of Health & Family Welfare
    
• Visualizing the World of Neonatal Screening: An Interactive Map for the 21st Century
  Peter Schielen, PhD, International Society for Neonatal Screening

2:00 - 3:50 pm PST | Plenary Session: The Role of Genomics as a First-line Test in Newborn Screening

Around 80% of rare disorders are genetic in origin and first-line genomic testing offers a new and exciting way to extend newborn screening (NBS), enabling the early recognition and treatment of a growing number of these conditions. In this session, we will hear from those exploring the potential for genomic testing alongside those using genomics to complement metabolite-based screening. 

Moderator:

• Peter Schielen, PhD, International Society for Neonatal Screening
  

Speakers: 

• Is There a Role of Genomics as a First-line Test in Newborn Screening?
  Robert Nussbaum, MD, Invitae
    
• The Project Screen4care: A Multidisciplinary Approach Combining Genetic Newborn Screening and Artificial Intelligence to Achieve an Early Diagnosis of Rare Diseases
  Enrico Bertini, MD, Bambino Gesù Children’s Hospital
  
  
• Genomics England Newborn Genomes Programme: Screening 100,000 Newborns
  David Bick, MD, PhD, Genomics England
  
  
• Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions to Increase Health Equity for Children
  Wendy Kay Chung, MD, Department of Pediatrics, Columbia University
  
  
• The Medical Research Future Fund (MRFF) — Newborn Screening and Genomics
  Gladys Ho, PhD, BSc, Children’s Hospital Westmead Clinical School, The University of Sydney

4:10 - 6:00 pm PST | Plenary Session: The Role of Genomics as a First-Line Test in Newborn Screening (continued)

Around 80% of rare disorders are genetic in origin and first-line genomic testing offers a new and exciting way to extend newborn screening (NBS), enabling the early recognition and treatment of a growing number of these conditions. In this session, we will hear from those exploring the potential for genomic testing alongside those using genomics to complement metabolite-based screening. Our second session will include a panel discussion to explore the ethical and social issues resulting from the use of genomic testing in newborns on a whole population basis.

Moderator:

• James R. Bonham, PhD, Sheffield Children’s Hospital

Speakers: 

• Next Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden
  Anna Wedell, MD, PhD, Karolinska Institutet
  
  
• An Integrated Multiomics Approach to the Expansion of Newborn Screening for Genetic Disorders
  Enzo Ranieri, MSc, PhD, FHGSA, FFSc(RCPA), Sydney Children’s Hospital at Westmead
  
  
• Ethical Issues When Using Genomics
  Amy Gaviglio, MS, CGC, Connetics Consulting/CDC/APHL

6:30 - 7:30 pm PST | Ignite the Night Session

Come to our first-ever Ignite the Night session! You’ll hear from an array of presenters and topics, ranging from long-term follow-up data to the Wilson and Jungner criteria. These presentations will be fast, fun and informative!

Moderator:

• Jelili Ojodu, MPH, Association of Public Health Laboratories

Speakers: 

• Newborn Screening and Newborn Sequencing: The Harmonization of Two Different Notes
  Elizabeth Vengoechea, MS, CGC, Sanofi
  
  
• Max Wilson, Gunnar Jungner and the Wilson and Jungner Criteria
  Peter Schielen, PhD, International Society of Neonatal Screening
  
  
• The California Newborn Screening Hb Trait Follow-up Program
  Tracey Bishop, BS, California Department of Public Health
  
  
• Back to Basics — Identifying Informative Indices
  Inderneel Sahai, MD, New England Newborn Screening Program
    
• Igniting the Long-term Follow-up Data Discussion: Finding the Minimal Data Set to Start Looking at Impact
  Yvonne Kellar-Guenther, PhD, Center for Public Health Innovation
  Marci Sontag, PhD, Center for Public Health Innovation
    
• Call the Midwife! California’s Response to Increased Newborn Screening Education Needs for Community Births
  Eva Berman, RN, PHN, BSN, California Department of Public Health
  Joseph R. Domingo, MPH, California Department of Public Health
    
• The Future… Let’s Light It Up!
  Jerry Lominac, LabVantage Solutions Inc.
    
• United in Impact… We Are Revvity
  Corinn Rich, Reproductive Health North America

8:30 - 9:15 am PST | The Advisory Committee on Heritable Disorders in Newbornand Children — Putting into Practice the Goals of the Newborn Screening System

An overview of the Advisory Committee on Heritable Disorders in Newborns and Children current and future activities.

Moderator:

• Susan Tanksley, PhD, Texas Department of State Health Services
  

Speaker: 

• Ned Calonge, MD, MPH, Colorado School of Public Health and Advisory Committee on Heritable Disorders in Newborns and Children

9:15 - 10:00 am PST |The Conundrum Rumble

This session will feature a debate-style discussion with the authors of recently published opinions on the conundrums facing the newborn screening (NBS) system. Following recent events that highlight several ongoing challenges within the NBS system, the debate will feature differing viewpoints of how to address necessary changes for the NBS system. The discussion will focus on the broader goals, objectives, and infrastructure needed to advance NBS for the future.

Moderator:

• Scott M. Shone, PhD, HCLD(ABB), North Carolina Department of Health and Human Services 

Panelists: 

• Don Bailey, PhD, RTI International
• Beth Tarini, MD, MS, MBA, Children’s National Health System

11:00 am - 12:30 pm PST | Concurrent Sessions

Adoption and Use of Second-tier Testing 

This session will evaluate the current state of second-tier testing and how newborn screening (NBS) programs are identifying strategies to improve screening processes. Presentations will focus on identifying tiered testing strategies to reduce false positives and uncertain results for Mucopolysaccharidosis type II (MPS II) screening, and a review of 4 years of test results for Congenital Adrenal Hyperplasia (CAH), to determine the effectiveness of markers and impact on the presumptive positive rate and the positive predictive value. Discussions will also be had on how the New England Newborn Screening Program (NENSP) provides the opportunity to revise current cutoffs and algorithms to improve the positive predictive value and to reduce false negative results for homocystinuria (HCU) disorders.

Moderators:

• George Dizikes, PhD, Illinois Department of Health
• Joyal Meyer, MSN, RN, North Dakota Department of Health & Human Services

Speakers: 

• Expanding the Utility of Dried Blood Spot Glycosaminoglycan Second-Tier Testing: Observations from Early Mucopolysaccharidosis Type II Screening
  Patricia Hall, PhD, Mayo Clinic
    
• A Closer Look at Results from a Second-Tier Test for Congenital Adrenal Hyperplasia in Texas
  Patricia Hunt, Texas Department of State Health Services
    
• Validation and Initial Results of Improved Second-tier Testing of Dried Blood Spots for Newborn Screening for the Homocystinurias (Classical Homocystinuria and Remethylation Disorders)
  Devinder Kaur, PhD, New England Newborn Screening Program
    
• Second-tier Glycosaminoglycan Analysis in Dried Blood Spots by the Endogenous Non-Reducing End Method Provides the Best Approach for Reducing False Positives in Newborn Screening of MPS-I and MPS-II
  Michael Gelb, PhD, University of Washington
  

Emergency Preparedness and Contingency Planning

The session will focus on how establishing a Continuity of Operations (COOP) Plan can positively impact your newborn screening (NBS) program and the community it serves during times of disruption or emergency. The session will begin with an overview of changes to the current National NBS COOP Plan, including placing a greater emphasis on follow-up considerations. The subsequent presenters will delve into how their NBS program dealt with challenges as a result of laboratory shutdowns due to building renovations and moves, lasting effects of the COVID-19 pandemic and communication barriers with birthing facilities, law enforcement and other stakeholders. Lessons learned from multiple programs will be shared.

Moderators: 

• Carla Cuthbert, PhD, FCCMG, FACMG, Centers for Disease Control and Prevention
• Ewa King, PhD, Association of Public Health Laboratories

Speakers:

2:00 - 3:30 pm PST |Concurrent Sessions

Quality Improvement, Quality Control and Quality Assurance Activities 

This session will provide an overview of practices that newborn screening (NBS) programs can use to continuously improve the quality of their programs. It will begin with an overview of the Newborn Screening Quality Assurance Program (NSQAP) at the Centers for Disease Control and Prevention (CDC). Presentations will then describe a new biomarker that can be used to identify newborns recently treated with total parenteral nutrition (TPN), the impact that the Cystic Fibrosis (CF) Foundation has had in the diagnosis of infants with CF, a look into how the Indiana NBS Program has improve timeliness, accuracy and sample quality, and finally a discussion on why laboratories need to amend screening protocols and internal processes to reflect the qualitative nature of the T Cell Excision Circle (TREC) assay.

Moderators:

• Sulay Rivera, PhD, MS, University of Puerto Rico
• Patrice Held, PhD, Oregon State Public Health Laboratory 

Speakers: 

• Celebrating 45 Years of CDC’s Newborn Screening Quality Assurance Program
  Joanne Mei, PhD, Centers for Disease Control and Prevention
    
• A Novel Biomarker Indicative of Total Parenteral Nutrition Administration Multiplexed into Primary Tier Newborn Screening Assays
  C. Austin Pickens, PhD, Centers for Disease Control and Prevention
    
• One SIP at a Time: Quality Improvement for Cystic Fibrosis Newborn Screening
  Marissa Rollins, MPH, Cystic Fibrosis Foundation
    
• Improving NBS Quality at the Birthing Facility Level Through the Implementation of NBS Audit Procedures and Site Visits
  Jennifer Weaver, BA, Indiana Department of Health
    
• Intra-laboratory Variation of the ImmunoIVD SPOT-it TREC Screening Kit Highlights the Need to Review Newborn Screening Algorithms to Ensure They Are Consistent with Analytical Performance
  Rachel Carling, PhD, MSc, Synnovis, Guys & St Thomas’ NHSFT

Conditions Commonly Included in National Screening Panels

This session will examine ways in which newborn screening (NBS) programs have created efficiencies in testing conditions on the Recommended Uniform Screening Panel (RUSP). Discussions will be had around how programs can improve the specificity of first-tier NBS while positively affecting the overall NBS workflow, recommendations for optimizing screening for tyrosinemia type 1, a review of care results from two-tiered screening of adrenoleukodystrophy (ALD) and a description of methods used to harmonize test results for severe combined immunodeficiency (SCID).

Moderators:

• James R. Bonham, PhD, Sheffield Children’s Hospital
• Rajesh Sharma, PhD, FACMG, California Department of Public Health

Speakers: 

4:00 - 6:00 pm PST |APHL and ISNS Newborn Screening Awards Ceremony

8:30 - 10:00 am PST |Concurrent Sessions

Conditions Under Consideration for Addition to or Removal from State Panels

This session will examine how programs are adding conditions to their newborn screening (NBS) panels and important factors all programs should consider as they continue to add more types of testing. Presentations will focus on the following: how the North Carolina NBS Program screened over 100,000 newborns to evaluate the utility of genomic sequencing and glycosaminoglycan testing in dried blood spots (DBS) for use in NBS algorithms; how the California NBS Program began to screen for Guanidinoacetate methyltransferase (GAMT) deficiency; how Germany is initiating a prospective NBS pilot for screening of Metachromatic leukodystrophy (MLD); a discussion on medical costs relative to time to diagnosis for adrenoleukodystrophy (ALD), Pompe and severe combined immunodeficiency (SCID); and an analysis of a 2-year experience with a hospital-based supplemental Duchenne Muscular Dystrophy (DMD) NBS program. 

Moderators:

• Graham Sinclair, PhD, British Columbia Children’s Hospital
• M. Christine Dorley, PhD, Tennessee Department of Health: Laboratory Services

Speakers: 

• Newborn Screening Pilot Study for Mucopolysaccharidosis Type II in North Carolina
  Katerina Kucera, PhD, RTI International
  
  
• Determination of Guanidinoacetate, Creatine and Creatinine in Newborn Dried Blood Spot By Tandem Mass Spectrometry — A Two Tier Approach
  Rajesh Sharma, PhD, FACMG, California Department of Public Health
  
  
• Prospective Newborn Screening for Metachromatic Leukodystrophy in Germany: Results of the First 18 Months
  Petra Oliva, PhD, ARCHIMED Life Science GmbH
  
  
• Economic Impact of Timely Diagnosis in Three Rare Diseases with Infant and Childhood Onset
  Dylan Simon, MS, EveryLife Foundation for Rare Diseases
    
• Attributable Risks of Perinatal Factors on Elevation of Dried Blood Spot Creatine Kinase-MM Levels in Duchenne Muscular Dystrophy Newborn Screening Determined via Maternal, Fetal and Newborn Electronic Medical Record Data Linkage
  Richard Parad, MD, MPH, Brigham and Women’s Hospital, Harvard Medical School

Training, Education and Communication

This session will explore the various ways newborn screening (NBS) programs interact with parents and families throughout the screening process. The beginning of the session will address ways to improve communication of NBS results to parents, successes and lessons learned from a marketing campaign to help introduce prospective and new parents to NBS and findings from a quality improvement project aimed at educating families during the prenatal period. Subsequent presenters will focus on how socio-economic factors, educational background, family make up and location can affect interactions with, and information presented, to families, and how organizations use multi-media platforms to disseminate this quality improvement information to NBS programs.

Moderators:

• Carmencita Padilla, MD, MAHPS, University of the Philippines, Manila
• Lisa Caton, MS, RN, Oklahoma State Department of Health

Speakers: 

10:30 am - 12:00 pm PST | Moving Programs Forward

Our closing session will look at how newborn screening (NBS) programs are driving change and creating influence within the public health system. The session will begin with a discussion around the importance of workforce development and the challenges programs face in recruiting, training and retaining staff. Our next presentation will address ways in which programs can bring on NBS fellows as well as the benefits to the program and includes a conversation with a fellow from Washington state. The final three presenters will summarize their experiences of adding new conditions to their screening panels and provide recommendations to help strengthen NBS programs and ultimately the whole public health system.

Moderators:

• Denise Kay, PhD, New York Department of Health
• Enzo Ranieri, MSc, PhD, FHGSA, FFSc(RCPA), Sydney Children’s Hospital at Westmead

Speakers: 

• A Focus on Newborn Screening Workforce: Identifying Opportunities and Challenges in Newborn Screening Programs
  Susan Tanksley, PhD, Texas Department of State Health Services
  
  
• Hosting a Ronald H. Laessig Newborn Screening Fellow
  John Thompson, PhD, Washington State Public Health Laboratories
  Lawrence Pastor, MD, Washington State Public Health Laboratories
  
  
• Creating an Evidence-based Review Process for the Addition of Conditions to Iowa’s Newborn Screening Panel
  Kimberly Noble Piper, RN, BS, CPH, CPHG, Iowa Department of Health and Human Services
    
• Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process
  Eri Hoshino, MA, PhD, National Center for Child Health and Development
    
• Expansion of the Brazilian Neonatal Screening Program: Pilot Studies and Prospects
  Layzon da Silva, BioDiscovery Lab, Hospital de Clínicas de Porto Alegre