2022 Newborn Screening Symposium

Day 1 ​- Sunday, October 16

4:15 - 6:00 pm PST | Parent/Patient Panel

​​This session will feature compelling personal accounts of how newborn screening impacts the lives of patients and 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.


  • Angelica Watkins, Washington State Public Health
  • Lani Culley, MPH, Washington State Department of Health Laboratory


  • Susan & Indie Mays
  • Denise Bazemore
  • Kendra Hogenson

Day 2 - Monday, October 17

7:00 - 8:00 am PST | Concurrent Roundtables

Exploration of Privacy-Enhancing Technologies to Ensure Patient Trust, Privacy, and Data Transparency in CDC ED3N

This roundtable will review relevant privacy enhancing technologies (PETs), caveats of use, and areas for future research and development. Of particular focus will be privacy-preserving record linkage, a technique to link data from the same patient across different sources in a way that does not compromise personally identifiable information (PII). PPRL can accelerate data sharing by minimizing the manual and labor-intensive processes common in healthcare. Lastly, the roundtable will describe efforts to deploy PETs as part of the Newborn Screening and Molecular Biology Branch’s (NSMBB) Enhancing Data-driven Disease Detection in Newborns (ED3N) platform. Integration of PETs into ED3N will help NBS programs harmonize and analyze their data in a responsible, reproducible manner. 


  • Amy Gaviglio, MS, CGC, Connetics Consulting/CDC/APHL

What Does Long-Term Follow-up Mean to You? A Discussion With State NBS Programs 

Over 20,000 newborns are diagnosed each year with a congenital condition through the newborn screening (NBS) system. The majority of these conditions require life-long care and management, ideally with the care coordinated through a medical home, to assure the best possible outcomes for each diagnosed baby. All stakeholders in the NBS community play important roles in long-term follow-up (LTFU), but there is no national system of LTFU data collection, analysis, sharing, and reporting. In addition, LTFU activities, policies, and practices vary across state NBS programs. This roundtable will provide state NBS programs a forum to discuss their involvement in LTFU and to create a series of definitions of LTFU for each stakeholder group. A new initiative will also be described to capitalize on clinical care efforts to deliver LTFU into a centralized resource that will improve the insight of the benefits of NBS. 


  • Jennifer Taylor, PhD, American College of Medical Genetics and Genomics

A Community of Practice: Exploring Current Newborn Screening Result Communication Practices

This roundtable presentation will provide important preliminary data on parents’ experiences receiving initial newborn screening NBS results as revealed in survey responses from the current National Institute of Health (NIH) funded R01 project which asked parents of a child that received a false positive or normal initial NBS result about their communication experience. It will also create an opportunity for necessary information sharing and collaboration to improve these experiences moving forward with a goal to promote sharing of processes and procedures as well as successes and challenges between NBS program leadership and staff. 


  • Brianne Miller, MPH, Children’s National Hospital

8:30 - 10:00 am PST |Financial, Legal, Ethical, Policy and Social Implications (FLEPSI)

This session will describe the landscape of newborn screening (NBS) in 2021 through present day and consider the challenges and opportunities now facing NBS programs. Such challenges and opportunities include establishing a biobank to support further understanding of NBS diseases; increasing knowledge and transparency about NBS processes to alleviate concerns; and developing a proposal for harmonizing how conditions are counted and named.


  • Aaron Goldeberg, PhD, MPH, Case Western Reserve University
  • Kim Hart, MS, LCGC Utah Department of Health and Human Services


  • The State of Newborn Screening Systems in the United States in 2021–2022
    Sikha Singh, MHS, PMP, Association of Public Health Laboratories
  • Newborn Screening Modernization: Issues and Strategies
    Don Bailey, PhD, RTI International
  • Development of a Biobank to Support Research for Current and Future Newborn Screening Disease Targets in Canada
    Monica Lamoureux, MSc, PMP, CCRP, Children’s Hospital of Eastern Ontario
  • Newborn Screening Research and Consent — A Review of the Current Landscape in the United States
    Shibani Kanungo, MD, MPH, FAAP, FACMG, University of Western Michigan
  • Newborn Screening Research and Consent — A Review of the Current Landscape in the United States
    Shibani Kanungo, MD, MPH, FAAP, FACMG, University of Western Michigan

11:00 am - 12:30 pm PST | Keynote: Improvements to Technology, Testing and Treatments: Progressing Towards Universality in Newborn Screening

This session will focus on promoting equitable access to gene therapies and followup care for rare diseases, with the recognition that trust in public health systems has changed in recent years. Discussions will evaluate where the public health system currently stands in  increasing access and equity in the care and treatmentof rare diseases and how a lack of trust in underserved populations affects the social contract that newborn screening (NBS) programs and other public health systems rely on to function. 


  • John Thompson, PhD, MPH, MPA, Washington State Public Health Laboratory
  • Michele Caggana, ScD, FACMG, Wadsworth Center, New York Department of Health


  • The Future of Public Health, Challenges and Lessons Learned
    Umair A. Shah, MD, MPH, Secretary of Health, Washington State Department of Health
  • Improving Access to Care in Sickle Cell Disease 
    Julie Kanter, MD, The University of Alabama at Birmingham
  • Assumptions, Access and Adults
    Sandra Sirrs, MD, University of British Columbia
  • Emerging Therapeutic Platforms for Monogenic Disease and Implications for Newborn Screening
    Philip J. (P.J.) Brooks, PhD, National Institutes of Health

2:00 - 3:30 pm PST | Health Equity

This session will examine equity and disparity as it relates to the newborn screening (NBS) system by assessing whether the universality of NBS is maintained, and potential risk factors identified, through the screening and follow-up process. The session will also focus on the screening of cystic fibrosis (CF) and how to best address disparities in order to counter barriers to timeliness and equity. A discussion on the clinical perspective of health equity based on the experience of treating patients who have been traditionally marginalized will be had. 


  • Michelle Mills, MSFS, Kansas Department of Health and Environment
  • Carla Cuthbert, PhD, FCCMG, FACMG, Centers for Disease Control and Prevention


  • Using NewSTEPs Data to Assess Disparities in Newborn Screening
    Amy Gaviglio, MS, CGC, Connetics Consulting/CDC/APHL
  • Building Relationships to Reduce the Gaps: How Analysis of LFU Data Led to Newfound Partnerships, a More Comprehensive Educational Program, and Increased Equity Within Program Activities
    Drew Duncan, MA, Kansas Department of Health
  • Towards Equity and Timeliness in Cystic Fibrosis Newborn Screening
    Albert Faro, MD, Cystic Fibrosis Foundation
  • Stength of A Nation
    Socia Love-Thurman, MD, Seattle Indian Health Board

4:00 - 5:30 pm PST | Short-term and Long-term Follow-up

This session will explore ways that newborn screening (NBS) programs are improving follow-up practices and creating better tools for communicating. It will discuss efforts to put families impacted by spinal muscular atrophy (SMA) first in the design of long-term follow-up (LTFU) tools; summarize ways to connect individuals with phenylketonuria lost to follow-up with services; compare cystic fibrosis (CF) and CF-Related Metabolic Syndrome (CRMS) patients; and describe the structure and value of a peer-to-peer learning exchange program for NBS short-term follow-up (STFU) programs. 


  • Christen Crews, MSN, RN, Virginia Department of Health
  • Kelly Kramer, MPH, Washington State Public Health Laboratory


  • Putting Families First: Innovative Approaches of Long-Term Follow-up Cares and Check Initiative (LTFU-Cares & Check)
    Jennifer Taylor, American College of Medical Genetics and Genomics
  • Pilot Project to Reconnect Michigan’s Lost to Follow-up Phenylketonuria Population with Information and Services
    Kristy Karasinski, MPH, Michigan Department of Health & Human Services
  • The Forest or the Trees: 12 years’ Experience of CF, CRMS and Diagnostic Transitions Following Newborn Screening for CF in California
    Stanley Sciortino, MPH, PhD, California Department of Public Health
  • Initial Success of the NewSTEPs Follow-up Learning Exchange (FLEX) Program
    Erin Darby, MPH, MCHES, Association of Public Health Laboratories

6:00 - 6:30 pm PST | Meet the Manufacturers

Light-hearted presentations from Baebies and PerkinElmer, along with snacks and beverages. 

Day 3 - Tuesday, October 18 

7:00 - 8:00 am PST | Innovate! Sessions

  • PerkinElmer
  • Waters Integrated Software Soilutions

8:30 - 10:00 am PST | International Perspectives

This session will examine newborn screening (NBS) systems with an international lens, in particular how NBS programs in the Netherlands expanded from 17 to 31 conditions — with an emphasis on improving timeliness and avoiding future false positives while screening Mucopolysaccharidosis type I (MPS I), the performance of Latin American labs participating in the Newborn Screening Quality Assurance  Program (NSQAP), and the recent implementation of whole genome sequencing in the United Kingdom. 


  • Joanne Mei, PhD, Centers for Disease Control and Prevention
  • M. Christine Dorley, PhD, MT(ASCP), Tennessee Department of Health,Laboratory Services


  • Expanded Neonatal Bloodspot Screening Programmes: A Framework to Prioritize New Conditions With Stakeholders
    Marleen Jansen, PhD, Dutch National Institute for Public Health and the Environment
  • Performance Evaluation of Latin America Laboratories in the CDC Newborn Screening Quality Assurance Programs, 2016–2022
    Ernesto Gonzalez Reyes, PhD, Centers for Disease Control and Prevention
  • Evaluation of the First Year of Screening for MPS I in The Netherlands
    Rose Maase, PhD, C(ASCP)CM, MRSC, Dutch National Institute for Public Health and the Environment
  • Evaluating the Use of Whole Genome Sequencing in Newborn Screening: The Genomics England Newborn Genomes Programme
    David Bick, MD, Genomics England

11:00 am - 12:30 pm PST | Current Recommended Uniform Screening Panel (RUSP) Conditions to State NBS Panels

This session will examine how newborn screening (NBS) programs have created efficiencies in testing conditions on the RUSP. Examples include identifying optimal screening procedures for detecting infants with Primary Congenital Hypothyroidism (CH), presenting breakthrough methods for multiplexing total homocysteine (tHcy), examining ways to reduce the number of false positives and improve turn around  time (TAT), analyzing how lysosomal storage disorders (LSDs) can benefit from NBS and determine ways metabolomics can be used as a tool in the expansion of screening for new disorders.


  • Graham Sinclair, PhD, British Columbia Children’s Hospital
  • Denise Kay, PhD, Wadsworth Center, New York State Department of Health


  • Congenital Hypothyroidism Detection in Texas: A Ginormous Study of T4 and TSH as Primary Analyte
    Brendan Reilly, BS, Texas Department of State Health Services
  • Multiplexing Homocysteine into FIA-MS/MS Primary-Tier Screening with Amino Acids, Acylcarnitines, Succinylacetone, Adenosine, Deoxyadenosine and Other Biomarkers by Selective Homocysteine Derivatization
    Austin Pickens, PhD, Centers for Disease Control and Prevention
  • Michigan’s Experience Transitioning from Digital Microfluidics to MS/MS for Lysosomal Storage Disorder Screening
    Shawn Moloney, MPH, MLS (ASCP), Michigan Newborn Screening Laboratory
  • LDT Implementation for the Screening of X-ALD, Pompe Disease and MPS-I with One Dried Blood Spot Using LC-MS/MS
    Nicolas Szabo, PhD, Utah Public Health Laboratory
  • Neonatal Screening for Peroxisomal Disorders: New and Novel Lipid Biomakers
    Enzo Ranieri, PHD, Women’s and Children’s Hospital, Australia

2:00 - 3:30 pm PST | Quality Improvement, Quality Control, Quality Assurance

This session will provide an overview of practices performed by newborn screening (NBS) programs to improve the quality of their programs. Presentations will include a review of tools used to facilitate virtual collaboration, updates on cases previously closed as Lost to Follow-up, a look into the development of harmonization frameworks, an examination of processes to improve communication, increase timeliness, and reduce the risk of human error, and share ways to streamline efforts between the lab, follow-up and external partners.


  • Lorrie Folmar, RN, BSN, Alaska Division of Public Health
  • Lisa Shook, MA, MCHES, Cincinnati Children’s Hospital Medical Center


  • Using Systems Design Thinking to Improve Internal Notifications Between Laboratory and Follow-up Components of the Kansas Newborn Screening Program, Part 1: Understanding the Current System, User Needs and Improvement Measures
    Kinsey Anderson, MPH, Kansas Department of Health and Environment 
  • A Quality Management Project with Inherited Metabolic Disorders Specialty Care Centers to Reduce Referrals Lost to Follow-up
    Kathy Chou, PhD, New York State Department of Health
  • Development of Post-analytical Methodologies for the Uniform Interpretation of Newborn Screening Data
    Nicolas Szabo, PhD, Utah Public Health Laboratory
  • Beyond the Fax Machine: Improving Operations and Communication between Follow-up, NBS Laboratory and NICU
    Christen Crews, MSN, RN, Virginia Department of Health
  • Newborn Screening Follow-up Harmonization Project
    Lani Culley, MPH, Washington Public Health Laboratories

4:00 - 5:30 pm PST |Training, Education and Communication

This session will explore the various ways newborn screening (NBS) programs interact with parents and families throughout the screening process. Presentations will explore how programs communicate with communities, and the frustrations and limitations that can occur. Ideas on ways to improve processes from interviews with parents will also be discussed. In order for families to become leaders in the NBS system, adequate training strategies are required to improve confidence and agency. Exploring this parent perspective is integral to creating a public health system that works for everyone.


  • Sarah Viall, MSN, PPCNP-BC, Oregon Health & Science University
  • Carol Johnson, University of Iowa Hospitals and Clinics


  • Understanding Clinician Needs and Preferences with Respect to Returned NBS Results
    Nicole Ruiz-Schultz, PhD, Utah Public Health Laboratory
  • Discrepancies between Parent-reported and Known NBS Results: Examining Parent Experiences with Qualitative Interviews
    Anne Atkins, MPH, Children’s National Hospital
  • Engaging Family Leaders in the NBS System
    Marianna Raia, MS, CGC, Expecting Health at Genetic Alliance
  • Developing an Integrated, Mixed-Methods Parent Engagement Research Program: The ScreenPlus ELSI Studies
    Aaron Goldenberg, PhD, MPH, Case Western Reserve University

6:00 - 7:00 pm PST| Special Session: The Next Frontier of Genetics and Privacy: NBS at the Intersection

This session will feature presentations focused on genetic privacy in the context of new developments in rapid whole genome sequencing of newborns. Discussions will highlight a private industry perspective (presenting research efforts on rapid whole genome sequencing for rare disease diagnosis in newborns), a state perspective (the aftermath of a court ruling on the Texas NBS program’s storage and use of residual  dried blood spots) and a legal perspective (the landscape of policies, regulations and statutes, or their absence, across state NBS programs governing access to residual dried blood spots and for what purposes). 


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


  • A new beginning – how newborn genomic sequencing can complement and expand current practices
    Wendy Benson, MBA, Rady Children’s Institute for Genomic Medicine
  • Genetic Privacy and Newborn Screening – A State Program Perspective
    Rachel Lee, PhD, HCLD, Texas Department of State Health Services
  • The Risks of Law Enforcement Access in Newborn Screening
    Natalie Ram, JD, University of Maryland Carey School of Law

Day 4 - Wednesday, October 19

7:00 - 8:00 am PST | Concurrent Roundtables 

Hemoglobinopathy Newborn Screening: Is It Time to Increase Molecular Testing?

Every Newborn Screening (NBS) program in the US and its territories assesses for hemoglobinopathies utilizing isoelectric focusing electrophoresis (IEF) and/or High-Performance Liquid Chromatography (HPLC) techniques. While these methods are robust, in several instances molecular methods become necessary to precisely identify the hemoglobin variant or thalassemia genotype. Currently, the number of state and territorial NBS programs that have access to molecular testing as well as the methodologies they used were determined through a nationwide survey of these programs. This roundtable will discuss the results of a survey conducted in 2018 of all US state newborn screening programs to determine approaches used for detecting and reporting beta-thalassemia and whether states used molecular methods in their testing algorithm.


  • Amanda Ingram, RN, Tennessee Department of Health

Embracing Expanded COVID-era Capabilities in Metabolic Newborn Screening (NBS) Follow-up in Oregon

This roundtable will review how the Metabolic Genetics Clinic adjusted to changes as a result of the COVID-19 pandemic. Discussion will include how they altered workflows in unprecedented ways to provide uninterrupted expedient follow-up of potentially affected babies while expanding remote collaboration with newborn screening (NBS) program staff, rolling out telemedicine visits, adding contiguous state licenses and coordinating community follow-up diagnostic test collection and treatment. Ultimately, as the public health crisis enters a new phase, the followup program has been able to leverage many of capabilities resulting in a more flexible experience for families and other stakeholders, including expanding remote collaboration, virtual education and telemedicine visits. 


  • Sarah Viall, MSN, PPCNP-BC, Oregon Health Sciences University
  • Leah Wessenberg, FNP, MN, Oregon Health Sciences University

Good, Better, Best: Setting a Standard for the Newborn Screening Workforce of Today, Tomorrow and the Future

The roundtable session will engage participants in robust discussion on the outcomes of a survey aimed at identifying newborn screening (NBS) services and activities that are currently being conducted by state NBS programs and give input on next steps to develop guidance on standards for staffing a NBS program. Participants will be asked to break out into groups between various programs and explore a series of questions focusing on aspects of staffing components that make an effective NBS program. Roundtable outcomes will inform existing and future efforts to advance understanding of NBS programs’ needs and potential solutions to addressing workforce challenges. 


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

8:30 - 10:00 am PST | 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 include a description of the efforts made to simplify the addition of next generation sequencing within NBS programs, ways in which a database can facilitate and streamline variant data collection, interpretation and reporting, and an overview of current recommendations and practices for sequencing and variant classification.


  • Charles Lechner, MS, Tennessee Department of Health: Laboratory Services
  • Christian Alcorta, MS, Virginia Division of Consolidated Laboratory Services


  • Creating a National Newborn Screening Bioinformatics and Variant Interpretation Tool: LIMS Lite and ED3N
    Amy Gaviglio, MS, CGC, Connetics Consulting/CDC/APHL & David E. Jones, PhD, Centers for Disease Control and Prevention
  • Benefits and Burdens of Gene Variant Analysis in the Newborn Screening Setting
    Denise Kay, PhD, Wadsworth Center, New York State Department of Health
  • Creation of a Variant Analysis Pipeline for Texas Newborn Screening DNA Sequencing
    Samantha Marcellus, MPH, Texas Department of State Health Services

10:30 am - 12:00 pm PST |Molecular Technology

This session will summarize newborn screening (NBS) for various types of conditions to better understand screening outcomes in premature newborns and practices that reduce unnecessary follow-up activities. Conditions include NBS for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs), molecular investigation of Idiopathic T-cell Lymphopenia and expanded screening for Cystic Fibrosis (CF) and Krabbe disease.


  • Suzanne Cordovado, PhD, Centers for Disease Control and Prevention
  • Sainan Wei, MD, PhD, Kentucky Division of Laboratory Services


  • Severe Combined Immunodeficiency (SCID) Screening for Premature Infants Quality Improvement Project
    Ruthanne Sheller, MPH, Association of Public Health Laboratories & Amy Gaviglio, MS, CGC, Connetics Consulting/CDC/APHL
  • Molecular Investigation of Idiopathic T-cell Lymphopenia Cases in New York State
    Denise Kay, PhD, Wadsworth Center, New York State Department of Health
  • Expanded Screening for Cystic Fibrosis - No Sweat
    Michael Cellucci, MD, Delaware Newborn Screening Program
  • The p.Y319C GALC Variant and Newborn Screening for Krabbe Disease
    Dietrich Matern, MD, PhD, Mayo Clinic

12:00 - 1:30 pm PST | Awards Ceremony Lunch

1:30 - 3:00 pm PST | Health Information Technology (HIT)

This session will evaluate methods of technology used to support newborn screening (NBS) programs including how electronic data exchange can impact hospital engagement, the approaches and tools utilized to help NBS programs better understand and implement their interoperability goals and how to improve future Continuity of Operations Plans (COOP) when faced with technology issues. 


  • Brendan Reilly, BS, Texas Department of State Health Services
  • Stanley Sciortino, MPH, PhD, California Department of Public Health


  • Promoting Newborn Screening Interoperability — How to Effectively Communicate Benefits to Improve Hospital Engagement
    Emily Hopkins, MS, Virginia Division of Consolidated Laboratory Services
  • Advancing Electronic Data Sharing for Newborn Screening Programs
    Craig Newman, PhD, Altarum
  • Utilizing a Data Exchange to Achieve Interoperability in Newborn Screening
    Heather Brand, Minnesota Department of Health Newborn Screening
  • Improving COOP in South Carolina: Lessons Learned from Memorial Day Weekend 2021
    Elizabeth Bair, MS, South Carolina Dept of Health & Environmental Control

4:00 - 5:30 pm PST |Conditions Under Consideration for Addition to, or Removal from, State NBS Panels

This session will explore testing for congenital cytomegalovirus (cCMV) and Duchenne Muscular Dystrophy (DMD) in three states. Presenters will discuss the efficiency of CMV dried blood spot (DBS) testing methods, share data from testing dried blood spots using real-time PCR and discuss implementation efforts of testing for CMV in Minnesota. North Carolina will discuss the screening of DMD through the Early Check NBS study, which offers consented screening for conditions currently not a part of routine NBS. New York will evaluate the screening for DMD as part of a pilot study that will help to determine recommendation for states implementing screening. 


  • Mei Baker, MD, FACMG, Wisconsin State Laboratory of Hygiene
  • Pranesh Chakraborty, PhD, Newborn Screening Ontario


  • Clinical Sensitivity of Dried Blood Spots and Saliva for Detection of Congenital Cytomegalovirus Disease
    Tatiana Lanzieri, MD, MPH, Centers for Disease Control and Prevention
  • Evaluation of Testing for Congenital Cytomegalovirus in Dried Blood Spot Using Real-Time PCR in Minnesota
    Carrie Wolf, MBS, Minnesota Department of Health
  • Early Check Newborn Screening Pilot Study for Duchenne and Related Muscular Dystrophies in North Carolina
    Holly Peay, PhD, MS, RTI International
  • Factors Influencing Creatine Kinase-MM Levels in Newborns and the Relevance for Newborn Screening for Duchenne Muscular Dystrophy
    Norma Tavakoli, PhD, Wadsworth Center, New York State Department of Health

Day 5 - Thursday, October 20

7:00 - 8:00 am PST | International Society for Neonatal Screening (ISNS) Membership Meeting


  • Enzo Ranieri, pHd (he/him/his) – Directorate of Genetics & Molecular
  • Joanne Mei, PhD, Centers for Disease Control and Prevention


  • ISNS Activities
    Peter Schielen, PhD International Society for Neonatal Screening
  • The need for certainty in Newborn Screening, implications for genomic testing
    Jim R. Bonham, MSc, PhD, CSci, FRCPath, International Society for Neonatal Screening
  • Developing Newborn Screening in low and middle income countries, a joint effort
    Dianne Webster, PhD, Newborn Screening New Zealand, Auckland District Health Board

8:30 - 10:00 am PST | Adoption and Use of Second-tier Testing

This session will evaluate the current state of second-tier screening, the methods used, and the challenges associated with either adopting in-house second-tier screening or sending testing to a reference laboratory. Ways to improve screening performance for Mucopolysaccharidosis Type I (MPSI), lysosomal disorders glycogen storage disease type II (Pompe), homocystinuria (HCU) and HCU-ReMet disorders and vitamin B12 deficiency will be discussed. 


  • Ewa King, PhD, Association of Public Health Laboratories
  • Joseph Orsini, PhD, New York State Department of Health


  • The Changing Landscape of Mass Spectrometry-based Biochemical Second-tier Newborn Screening
    Kostas Petritis, PhD, Center for Disease Control and Prevention
  • Newborn Screening for Mucopolysaccharidoses: Evolution and Improvement of a Two-tier Screening Approach
    Patricia Hall, PhD, Mayo Clinic
  • Dual 2nd-tier Screening of Lysosomal Disorders Glycogen Storage Disease Type II (Pompe) and Mucopolysaccharidosis I (MPS I) with Biochemical and Sequencing — A Comparison of Data, Benefits and Outcomes
    Michelle Mills, MS, Kansas Department of Health and Environment
  • Newborn Screening for the Homocystinurias (Classical Homocystinuria and Remethylation Disorders) — Expanding and Improving Biomarkers and Algorithms
    Devinder Kaur, PhD, New England Newborn Screening Program
  • Vitamin B12 Deficiency: Implications for Newborn Screening
    Graham Sinclair, PhD, British Columbia Children’s Hospital

10:30 am - 12:00 pm PST | Pilot Studies

This session will explore various pilot studies for newborn screening (NBS). It will reflect on whether the length of a pilot study affects long-term follow-up (LTFU) data, how the amount of time spent on laboratory work is affected when a new pilot study is implemented, how pilot studies provide critical evidence to assess the appropriateness of candidate disorders for population wide NBS and whether early detection of diseases can improve quality of life and result in lower provider and testing costs. 


  • Aranjeet Singh, MA, MCHES, Washington State Public Health Laboratory 
  • Susan Berry, MD, University of Minnesota


  • Reimaging Newborn Screening Pilots: Models, Mining and More
    Jennifer Taylor, PhD, American College of Medical Genetics and Genomics
  • It Takes a System: Implementation of Screening for Pompe Disease, MPS I and Krabbe Disease in Georgia — Pilot Studies, Post-analytical Tools, Second-tier Testing and a Lot of Communication
    Patricia Hall, PhD, Mayo Clinic
  • ScreenPlus: A Pilot Study to Screen for 14 Disorders: Overview, Challenges and Preliminary Results
    Joseph Orsini, PhD, Wadsworth Center, New York State Department of Health
  • Staged Newborn Screening for Common Childhood Diseases — The Combined Antibody Study for Celiac And Diabetes Evaluation (CASCADE Study)
    William Hagopian, MD, PhD, University of Washington