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

Melissa P Wasserstein, Michele Caggana, Sean M Bailey, Robert J Desnick, Lisa Edelmann, Lissette Estrella, Ian Holzman, Nicole R Kelly, Ruth Kornreich, S Gabriel Kupchik, Monica Martin, Suhas M Nafday, Randi Wasserman, Amy Yang, Chunli Yu, Joseph J Orsini, Melissa P Wasserstein, Michele Caggana, Sean M Bailey, Robert J Desnick, Lisa Edelmann, Lissette Estrella, Ian Holzman, Nicole R Kelly, Ruth Kornreich, S Gabriel Kupchik, Monica Martin, Suhas M Nafday, Randi Wasserman, Amy Yang, Chunli Yu, Joseph J Orsini

Abstract

Purpose: We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann-Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening.

Methods: At five participating high-birth rate, ethnically diverse New York City hospitals, recruiters discussed the study with postpartum parents and documented verbal consent. Screening on consented samples was performed using multiplexed tandem mass spectrometry. Screen-positive infants underwent confirmatory enzymology, DNA testing, and biomarker quantitation when available. Affected infants are being followed for clinical management and long-term outcome.

Results: Over 4 years, 65,605 infants participated, representing an overall consent rate of 73%. Sixty-nine infants were screen-positive. Twenty-three were confirmed true positives, all of whom were predicted to have late-onset phenotypes. Six of the 69 currently have undetermined disease status.

Conclusion: Our results suggest that NBS for LSDs is much more likely to detect individuals at risk for late-onset disease, similar to results from other NBS programs. This work has demonstrated the feasibility of using a novel consented pilot NBS study design that can be modified to include other disorders under consideration for public health implementation as a means to gather critical evidence for evidence-based NBS practices.

Keywords: newborn screening; pilot newborn screen; lysosomal storage disorders; informed consent.

Conflict of interest statement

Conflict of Interest Notification Page

Dr. Melissa Wasserstein has served as a consultant for, and has received travel reimbursement from Sanofi Genzyme.

Dr. Michele Caggana has no commercial association conflicts of interest with the information in the manuscript.

Dr. Sean Bailey has no commercial association conflicts of interest with the information in the manuscript.

Dr. Desnick is a consultant for Amicus therapeutics, Sanofi Genzyme and Sangamo Therapeutics. He has received research grants from Sanofi Genzyme and Sangamo Therapeutics. He own founders shares for Amicus Therapeutics and options for Sangamo Therapeutics. He has patents for Fabry and Neiman-Pick treatments and receives royalties from Sanofi Genzyme.

Dr. Lisa Edelmann is an employee of Sema4, a for profit genetic testing laboratory.

Ms. Lissette Estrella has no commercial association conflicts of interest with the information in the manuscript.

Dr. Ian Holzman has no commercial association conflicts of interest with the information in the manuscript.

Ms. Nicole Kelly has no commercial association conflicts of interest with the information in the manuscript.

Dr. Ruth Kornreich is an employee of Sema4, a for profit genetic testing laboratory.

Dr. Gabriel Kupchik has no commercial association conflicts of interest with the information in the manuscript.

Ms. Monica Martin has no commercial association conflicts of interest with the information in the manuscript.

Dr. Suhas Nafday has no commercial association conflicts of interest with the information in the manuscript.

Dr. Randi Wasserman has no commercial association conflicts of interest with the information in the manuscript.

Dr. Amy Yang has served as a consultant for Shire Therapeutics.

Dr. Chunli Yu is an employee of Sema4, a for profit genetic testing laboratory.

Dr. Joseph Orsini has no commercial association conflicts of interest with the information in the manuscript.

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