Denise M. Kay

Denise M. Kay, Ph.D.

Newborn Screening Program
Clinical Assistant Professor, School of Public Health, Biomedical Sciences
Ph.D., Rensselaer Polytechnic Institute, Troy, NY (2004)
Postdoctoral training: New York State Department of Health, Wadsworth Center
(518) 474-7610

Research Interests

Newborn screening, beginning with implementation of the 'PKU test' for phenylketonuria in the early 1960's, is one of the most successful public health programs in the US. Within days of birth, blood samples are collected via heel stick onto Guthrie filter paper cards, and samples are screened for a panel of biomarkers for treatable, congenital disorders.

The goal of newborn screening is to readily identify and rapidly treat, delay or prevent illness, intellectual disability, or death. The New York State Newborn Screening Program at the Wadsworth Center screens all infants born in NYS for more than 40 conditions including inherited metabolic disorders, hemoglobinopathies, congenital hypothyroidism, severe combined immunodeficiency (SCID), lysosomal storage disorders and other genetic conditions such as cystic fibrosis (CF) and spinal muscular atrophy (SMA).

Dr. Kay studies the genetics of diseases affecting infants and children, including conditions screened by the newborn screening program, and congenital malformations (birth defects). Her research utilizes both targeted and genome-wide approaches to identify and characterize mutations, susceptibility alleles and interactions in novel and known disease genes and pathways, using genetic, epidemiological, statistical, and bioinformatic approaches.

Ongoing work includes:

  • Characterization of CF sequence variants/mutations in the diverse NYS population;
  • Evaluation of outcomes following implementation of a three-tiered CF newborn screening algorithm that includes next generation sequencing;
  • Implementation of universal newborn screening for SMA;
  • Validation and assessment of utility of a multi-gene next generation sequencing panel for newborn screening;
  • Identification of novel risk factors for various congenital malformations using whole exome sequencing.

Other interests include improving existing newborn screening mutation panels and addressing challenges to implementation of next generation sequencing and expanded genetic screening in the newborn screening setting. The ultimate goal is to translate knowledge gained from these studies into routine public health practice.

Select Publications
Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, Cohen L, Jain R, Andrew SP, Dunaway Young S, De Vivo DC, Caggana M, Chung WK. Pilot study of population-based newborn screening for spinal muscular atrophy in New York State. Genetics in Medicine. 2018; 20 (6): 608-613.
Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Genetics in Medicine. 2016; 18 (12): 1235-1243.
Hughes EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, Krein LM, Parker A, Zhang Z, Maloney B, Vogel B, DeCelie-Germana J, Kier C, Anbar RD, Berdella MN, Comber PG, Dozor AJ, Goetz DM, Guida L Jr, Kattan M, Ting A, Voter KZ, van Roey P, Caggana M, Kay DM. Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population. Human Mutation. 2016; 37 (2): 201-208.
Kay DM, Langfelder-Schwind E, DeCelie-Germana J, Sharp JK, Maloney B, Tavakoli NP, Saavedra-Matiz CA, Krein LM, Caggana M, Kier C, New York State Cystic Fibrosis Newborn Screening Consortium. Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening. Pediatric Pulmonology. 2015; 50 (8): 771-780.
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): 729-738.
Full publication listing