Michele Caggana
    The Program was charged with testing for phenylketonuria in 1965 and today administers 12 million results annually.
    The New York Newborn Screening Program was charged with testing for phenylketonuria in 1965. Today the Program tests specimens from more than 275,000 infants for 45 disorders, administering 12 million test results annually. The New York Program is unique in that it screens for Krabbe disease and HIV exposure, and was the first to screen for sickle cell disease, beginning in 1975.

Michele Caggana, Sc.D., FACMG

Deputy Director, Division of Genetics
Chief, Laboratory of Human Genetics
Director, Newborn Screening Program
Harvard School of Public Health (1996)
Postdoctoral training: New York State Department of Health, Wadsworth Center
Postdoctoral training: Mt. Sinai School of Medicine

Research Interests

Dr. Michele Caggana joined the Wadsworth Center in 1996 after receiving her doctoral degree from the Harvard School of Public Health and completing post-doctoral work in molecular virology at Wadsworth Center and clinical molecular genetics at the Mt. Sinai School of Medicine.

Dr. Caggana is Chief of the Laboratory of Human Genetics and was appointed as Director of the Newborn Screening Program in 2005. She is the Deputy Director for the Division of Genetics and Co-Lead of the Genetic Testing Section for the Clinical Laboratory Evaluation Program.

Newborn screening has expanded drastically in recent years. Our Program now screens for 50 conditions. Since being the first in the country to add Krabbe disease screening in 2006, we have added six additional conditions. We were the first in the country to add screening for adrenoleukodystrophy and guanidinoacetate methyltransferase deficiency. In addition, we were fourth in the country to add testing for severe combined immunodeficiency and second to add universal screening for Pompe disease. In 2018, we also added screening for spinal muscular atrophy and mucopolysaccharidosis type I.

The lab has received funding from the Centers for Disease Control and Prevention, the Health Resources Services Administration, the Eunice Kennedy Shriver National Institute of Child Health and Human Development

and the Association of Public Health Laboratories to improve screening and to investigate the addition of new conditions to the panel. Such studies include consented pilots for spinal muscular atrophy, Duchenne muscular dystrophy and a new pilot to examine 13 additional conditions.

The Newborn Screening Molecular Laboratory performs second-tier molecular testing of newborns for cystic fibrosis, galactosemia, medium-chain acyl CoA dehydrogenase deficiency, Pompe disease, Adrenoleukodystrophy, Mucopolysaccharidosis type I, and guanidinoacetate methyltransferase in order to "rule-in" a positive diagnosis. Several other molecular tests are currently under development, including a custom newborn screening next generation sequencing panel

Awards and Honors


  • 2017 APHL Lifetime Achievement Award
  • 2016 Harry Hannon Laboratory Improvement Award
  • 2010 Commissioner’s Recognition Award
  • 2006 Commissioner’s Recognition Award, Newborn Screening and Genetic Services Team
  • 2003 Commissioner’s Recognition Award, Newborn Screening and Genetic Services Team


Select Publications
Kay D.M., Stevens C.F., Parker A., Saavedra-Matiz C.A., Sack V., Chung W.K., Chiriboga C.A., Engelstad K., Laureta E., Farooq O., Ciafaloni E., Lee B.H., Malek S., Treidler S., Anziska Y., Delfiner L., Sakonju A. and Caggana M. Implementation of Population-based Newborn Screening Reveals Low Incidence of Spinal Muscular Atrophy. Genet. Med. 2020; 22 1296-1302. DOI: 10.1038/s41436-020-0824-3
Wasserstein M.P., Caggana M., Bailey S.M., Desnick R.J., Edelmann L., Estrella L., Holzman I., Kelly N.R., Kornreich R., Kupchik S.G., Martin M., Nafday S.M., Wasserman R., Yang A., Yu C., and Orsini J.J. The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants. Genet. Med. 2019; 21 631-640. DOI: 10.1028/s41436-018-0129-y
Kraszewski J.N, Kay D.M., Stevens C.F., Koval C., Haser B., Ortiz V., Albertorio A., Cohen L.L., Jain R., Andrew S.P., Young S.D., LaMarca N.M., De Vivo D.C., Caggana M., and Chung W.K. Pilot study of population-based newborn screening for spinal muscular atrophy in New York State. Genet Med. 2018; 20 608-613. DOI: 10.1038/gim.2017
Rigler SL, Kay DM, Sicko RJ, Fan R, Liu A, Caggana M, Browne ML, Druschel CM, Romitti PA, Brody LC, Mills JL. Novel copy-number variants in a population-based investigation of classic heterotaxy. Genetics in Medicine. 2015; 17 (5): 348-357.
Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M. Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines. Mol Genet Metab. 2015; 114 (4): 599-603.
Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M. Newborn screening for SCID in New York State: experience from the first two years. Journal of Clinical Immunology. 2014; 34 (3): 289-303.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014; 312 (7): 729-38.
Saavedra-Matiz CA, Isabelle JT, Biski CK, Duva SJ, Sweeney ML, Parker AL, Young AJ, DiAntonio LL, Krein LM, Nichols MJ, Caggana M. Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots. Clinical Chemistry. 2013; 59 (7): 1045-1051.
Orsini JJ, Martin MM, Showers AL, Bodamer OA, Zhang XK, Gelb MH, Caggana M. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders. Clinica Chimica Acta. 2012; 413 (15-16): 1270-1273.
Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuze Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nature Genetics. 2012; 44 (12): 1360-1364.
Orsini JJ, Morrissey MA, Slavin LN, Wojcik M, Biski C, Martin M, Keutzer J, Zhang XK, Chuang W-L, Elbin C, Caggana M. Implementation of newborn screening for Krabbe disease: population study and cutoff determination. Clinical Biochemistry. 2009; 42 (9): 877-84.