Michele Caggana, ScD, FACMG

Dr. Michele Caggana is Chief of the Laboratory of Human Genetics and Director of the Newborn Screening Program at the New York State Department of Health's Wadsworth Center. She also serves as the Deputy Director for the Division of Genetics and co-lead of the Genetic Testing Section for the Clinical Laboratory Evaluation Program. Dr. Michele Caggana joined the Wadsworth Center in 1996, after receiving her doctoral degree from the Harvard School of Public Health and completing her post-doctoral work in molecular virology (also at the Wadsworth Center) and clinical molecular genetics at the Mt. Sinai School of Medicine. 

In 2006, Dr. Caggana was appointed as the Director of the New York State Newborn Screening Program. During her tenure, New York has developed one of the most thorough and cutting-edge molecular testing laboratories in the country to screen newborn disorders, processing more than 250,000 samples annually. The screening program has expanded dramatically over that time and now screens for more than 50 different conditions. They were the first program to screen for multiple disorders, including sickle cell disease, HIV exposure, Krabbe disease and adrenoleukodystrophy. In addition, they were early adopters of new conditions offering statewide testing for severe combined immunodeficiency, Pompe disease and guanidinoacetate methyltransferase deficiency. In 2018, they also added screening for spinal muscular atrophy, and mucopolysaccharidosis type I. 

The lab has received funding to improve screening and to investigate the addition of new conditions to the panel from multiple sources, including the Centers for Disease Control and Prevention, the Health Resources and Services Administration, the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the Association of Public Health Laboratories (from whom Dr. Caggana received their Lifetime Achievement Award in 2017). The program has conducted consented pilot studies for spinal muscular atrophy, Duchenne muscular dystrophy, and the NY ScreenPlus study to examine 14 additional conditions. They are actively engaged in developing new screening protocols, with several other molecular tests currently under development, including a custom newborn screening next-generation sequencing panel.  This custom assay has streamlined molecular workflow and increased throughput, and it has demonstrated feasibility of use in newborn screening for Cystic Fibrosis.  Dr. Caggana and her staff also routinely share their expertise in developing and implementing these screening protocols with their counterparts from other states.