The Association of Public Health Laboratories (APHL) held its annual Newborn Screening Symposium from October 5–9 in Providence, Rhode Island, bringing together approximately 570 scientists and healthcare professionals from across the United States and around the world. The symposium addressed a broad range of topics critical to public health newborn screening systems, including enhanced biochemical and molecular screening technologies; methods for detecting new conditions; quality improvement initiatives; strategies for communicating with families; and best practices for short- and long-term follow-up of screen-positive infants.
Seven members of the Wadsworth Center’s Newborn Screening Program attended the conference, representing the Immunoassay Laboratory, Molecular Laboratory, Inherited Metabolic Diseases Laboratory, Lysosomal Diseases Laboratory, the Follow-up Unit, and the External Systems Quality Unit. Their participation reflects New York State’s national leadership in newborn screening and ensures that New York’s testing, screening algorithms, and follow-up practices continue to meet the highest standards of quality and innovation.
The New York State team delivered 15 presentations, sharing data and experiences from recent pilot studies, quality improvement projects, and the implementation of new screening conditions and methodologies. Presentations also highlighted advances in testing timeliness and the development of a novel platform for long-term follow-up.
Presentations and coauthors:
- Newborn Screening for Metachromatic Leukodystrophy in New York State (J. Orsini, C. Balnis, M. Caggana, C. Saavedra-Matiz, R. Wilson, S. Park, J. McDermott, L. Sorenson, T. Whispell, S. Sheth, J. Xiao, D. Kay)
- Newborn Genome Sequencing: Perspectives from a Public Health Laboratory (D. Kay, J. Bradley, R. Sicko, B. Boyd, C. Koval-Burt, A. Begtrup, K. Langley, R. Hernan, T. Brandt, R. Leibel, S. Ratner, P. Kruszka, A. Gyimah, G. Jin, Y. Quevedo, W. Chen, O. Castillo Ceballo, J. Galarza Cornejo, W. Chung, M. Caggana)
- The Low Citrulline Conundrum: Reporting Low Citrulline Levels in New York State (V. Sack, J. Patel, E. Laitinen, B. Teta, J. Xiao, T. Whispell, M. Caggana, D. Kay)
- Time to Pivot? A Threat or an Opportunity to Keep Newborn Screening Long-term Follow-up Alive in New York (K. Chou, S. Fandl, R. Wilson, M. Caggana)
- Opting Out of Congenital Cytomegalovirus Screening in New York State (V. Sack, N. Tavakoli, M. Caggana, D. Kay, C. Saavedra-Matiz, C. Brandon, L. Steen, S. Bradley, S. Gagnon, E. Laitinen, A. Giacinto, I. Ojukwu, M. Pearce, M. St-Pierre, L. DiAntonio, C. McManaman, B. Maloney)
- Newborn Screening for Human Immunodeficiency Virus in New York State (N. Tavakoli, R. McMahon, M. Pearce, C. McManaman, M. Erickson, M. Caggana)
- Fifty Years of Newborn Screening for Sickle Cell Disease in New York State: Evolution, Impact and Future Directions (E. Tabe, C. Saavedra-Matiz, J. Yeman, E. Washor, I. Whitlingam, C. Brandon, S. Gagnon, C. Kim, L. DiAntonio, K. Chou, R. Wilson, D. Kay)
- Cytomegalovirus Infection Rate and Concordance/Discordance in Twin Births (C. McManaman, M. Pearce, V. Sack, C. Brandon, C. Saavedra-Matiz, D. Kay, M. Caggana, N. Tavakoli)
- Results and Challenges of Newborn Screening for Metachromatic Leukodystrophy in New York State (J. Xiao, C. Saavedra-Matiz, J. Orsini, M. Wasserstein, M. Nichols, D. Kay)
- Short-term Follow-up at 13 Weeks: Case Reviews and Outcomes (D. Stansfield, D. Maxon, R. Wilson, V. Sack, D. Kay)
- Fatty Acid Oxidation Disorder or Food Toxicity? A Case Report (J. Patel, V. Sack, C. Saavedra-Matiz, J. Gold, C. Colefield, J. Xiao, T. Whispell, D. Kay, M. Caggana)
- Shortening Time to Diagnosis and Treatment: Adjusting Follow-up Action Schedules for Aminoacidopathy Borderline Results (E. Laitinen, V. Sack, J. Xiao, D. Kay)
- Extended Short-term Follow-up for Endocrine Disorders: Modification of a Previously Established Framework (R. Wilson, D. Stansfield, L. Demartino, S. Sheth, K. Chou)
- Development of a Newborn Screening Long-term Follow-up Data Repository in New York State (S. Fandl, R. Wilson, M. Mortimer, P. Santos, M. Caggana, K. Chou)
- Analyzing Delays in Newborn Screening Timeliness: A Baseline Assessment Using Data in New York State (H. Ahmed, N. Guilfoyle, M. Caggana, K. Chou)