The Association of Public Health Laboratories (APHL) Annual Newborn Screening Symposium was held October 11-15 in New Orleans, Louisiana. An estimated 500 scientists and health care professionals from across the United States and other countries attended the symposium. The meeting addressed state, national, and international newborn screening, genetic testing, and policy issues central to public health newborn screening systems. Topics included enhanced biochemical and molecular testing platforms, screening methods for new conditions, quality improvement, communication with families and the public, and short- and long-term follow-up for screen-positive infants.
Seven senior staff members from the Wadsworth Center Newborn Screening Program presented findings spanning tandem mass spectrometry, genetic testing, immunoassay, follow-up, and external systems quality. They delivered 11 presentations on the New York experience, including implementation of new conditions, recent pilot-study results, quality-improvement efforts, improved testing methods and algorithms, a national industry collaboration on newborn genome sequencing, and long-term follow-up data collection.
Highlights included a presentation on cross-departmental collaboration with the Center for Community Health to identify infants with hearing loss associated with congenital cytomegalovirus infection; a third-place poster award for a novel 12-plex mass-spectrometry method to screen for new conditions; and a service award presented to Dr. Joseph Orsini, as APHL’s outgoing Co-Chair of the Newborn Screening Committee.
The New York State Program is regarded as a national leader in newborn screening. Participation in the symposium helps ensure that New York infants continue to benefit from high-quality testing, screening algorithms, and follow-up practices.
Oral presentations
- Implementing Newborn Screening for Metachromatic Leukodystrophy (MLD) as a Unified Front: Ensuring Harmonization from the Start – Catherine Balnis, PhD
- Long-term Follow-up of Asymptomatic Congenital Cytomegalovirus (cCMV) Newborn Screen Positive Babies – Virginia Sack, MS, CGC
- Cystic Fibrosis Genotyping Panels – Expanding Diversity – Denise Kay, PhD
- Universal Newborn Screening for Metachromatic Leukodystrophy in New York State – Jing Xiao, PhD
Poster presentations
- A 12-plex Assay for the High-Throughput Screening of Lysosomal and Other Disorders – Catherine Balnis, PhD; Laura Sorenson, BS; Sunju Park, MS; Stuti Sheth, MPH; Ryan Wilson, MS; Jack McDermott, BS; Tara Whispell, BS; Jing Xiao PhD; Denise Kay, PhD; Joseph Orsini, PhD
- Impact of Algorithm Changes Including Implementation of Multiple of the Median (MoM) on Severe Combined Immunodeficiency (SCID) Screening in New York State – Christopher Brandon, PhD; April Parker, BS; Carlos Saavedra-Matiz, MD; Elli Laitinen, MS; Jacklyn Dott, BS; Denise Kay, PhD
- Correlating Newborn Screening and Newborn Hearing Screening Results for Identification of Congenital Cytomegalovirus-Related Hearing Loss in Newborns – Norma Tavakoli, PhD; Jacklyn Dott, BS; Melissa Pearce, BS; Charity McManaman, MS; Jo-Yu Chin, PhD; Joanne Gerber, MS, RN; Solita Jones, DrPH; Marilyn Kacica, MD; Virginia Sack, MS, CGC; Michele Caggana, ScD; Denise Kay, PhD
- Influence of Sex on the Outcomes of Two Congenital Hypothyroidism Screening Algorithms – Lenore DeMartino, BS; Rebecca McMahon, BS; Melissa Pearce, BS; Breanne Maloney, BS; Rhonda Hamel, BS; Norma Tavakoli, PhD
- Implementation of a Newborn Screening Long-Term Follow-Up Program in New York State – Samantha Fandl, MPH; Rachel Wilson, MPH; Mahtab Sheikh, MPH; Denise Kay, PhD; Kathy Chou, PhD
Roundtable discussion
- Quality Improvement Strategies to Combat a Rise in Unsatisfactory Specimens – Kathy Chou, PhD; Holly Winslow*; Michelle Mills*, MS (*non-New York State Department of Health employees)
Panel discussion
- Inside the Engine Room: Implementing Genomic Newborn Sequencing Within Public Health Newborn Screening Programs; Panelists: Denise Kay, PhD; Patrice Held*, PhD; Sulay Rivera*, PhD; Kimberly Noble Piper*, RN; Moderators: Guisou Zarbalian*, MS, MPH; Ingrid Holm*, MD (*non-New York State Department of Health contributors)