Newborn Screening - hand holding infant heel

Joseph Orsini, Ph.D., Deputy Director of the Newborn Screening Program, oversees testing of ScreenPlus specimens at the Wadsworth Center. At the national level he chairs the Association of Public Health Laboratories (APHL) Newborn Screening Committee and serves on the APHL QA/QC Sub-committee.

All newborns in New York State are screened for 52 disorders including all 37 on the Recommended Uniform Screening Panel (RUSP). 

Because of the immense impact newborn screening has on public health, a committee of professionals continually evaluates conditions for addition to the RUSP. Pilot studies such as ScreenPlus can help determine if a new test for a disorder provides results that are beneficial to the health of the newborn and, therefore, the disorder should be added to the panel.

ScreenPlus is the largest pilot screening study of its kind in the United States aiming to screen 100,000 specimens.

At eight hospitals in New York City, parents may opt in to have their child’s specimen tested for 14 additional disorders. The pilot study evaluates the ethical, legal and social implications of the additional tests through surveys and interviews with the parents about their experience and opinions. Wadsworth Center's role in the study is to evaluate the accuracy, sensitivity, and practicability of the tests.

Joseph Orsini, Ph.D. and his team at the Wadsworth Center’s Newborn Screening Program perform first-tier screening on all of the ScreenPlus specimens. Specimens with an abnormal first-tier result are tested using second-tier biochemical and/or molecular methods. If the results are still abnormal, the family and physician are contacted for confirmatory testing. 

Thus far, 17,772 babies have been screened for the 14 disorders; one baby was confirmed to have cerebrotendinous xanthomatosis, four have been confirmed with possible late-onset Fabry disease, and five have been confirmed with late-onset Gaucher disease. The award is in its fifth year and is likely to be renewed for another five years based on impact. 

Award #: R01HD073292 for $92,699 from the Albert Einstein College of Medicine, under the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, supports in-house testing and needed supplies. Content is solely that of the authors.

Related Publications

A comprehensive, multi-disorder newborn screening program

Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. ScreenPlus: Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. PMID: 38173711; PMCID: PMC10761901.

The future of newborn screening for lysosomal disorders

Wasserstein MP, Orsini JJ, Goldenberg A, Caggana M, Levy PA, Breilyn M, Gelb MH. Neurosci Lett. 2021 Aug 24;760:136080. doi: 10.1016/j.neulet.2021.136080. Epub 2021 Jun 22. PMID: 34166724; PMCID: PMC10387443.

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10. PMID: 30093709; PMCID: PMC6369014.


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