Denise M. Kay, PhD

Newborn screening, beginning with implementation of a test for phenylketonuria in the 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 screened for a panel of biomarkers for treatable, congenital disorders. The goal of newborn screening is to detect conditions at birth, prior to symptom onset, when treatment is most effective. Early detection, diagnosis and intervention can alleviate or prevent illness, intellectual disability, or death. 

The New York State (NYS) Newborn Screening Program at the Wadsworth Center screens all infants born in NYS for more than 50 conditions including inherited metabolic disorders, hemoglobinopathies, congenital hypothyroidism, severe combined immunodeficiency (SCID), lysosomal 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 interests include characterization of screened conditions and improving genetic testing and analysis in the newborn screening setting. The ultimate goal is to translate knowledge gained into routine public health practice.

Ongoing work includes:

• Optimization of newborn screening algorithms, maximizing detection of affected infants in the diverse NYS population, while minimizing the number of false positive screens;
• Piloting newborn screening for candidate conditions not currently on the NYS panel;
• Development, validation and implementation of enhanced molecular screening assays;
• Characterization of CF sequence variants in the diverse NYS population, and evaluation of clinical outcomes following implementation of a three-tier CF newborn screening algorithm that utilizes next generation sequencing;
• Assessment of the feasibility and utility of first-tier molecular (DNA) testing infants at birth for treatable conditions that do not have a screenable biochemical biomarker in dried blood spots (Genomic Uniform-screening Against Rare Disease in All Newborns [GUARDIAN] pilot study; guardian-study.org);
• Identification of novel risk factors for congenital malformations using exome sequencing.