Michele Caggana, ScD, FACMG

Michele Caggana.

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 is 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 50 different conditions. They were the first program to screen for multiple disorders, including Krabbe disease, adrenoleukodystrophy, and guanidinoacetate methyltransferase deficiency. In addition, they were the fourth program in the country to add testing for severe combined immunodeficiency and the second to add universal screening for Pompe disease. 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 Services Administration, the Eunice Kennedy Shriver National Institute of Child Health, and the Human Development and the Association of Public Health Laboratories (from whom Dr. Caggana received their Lifetime Achievement Award in 2017). Their ongoing studies include consented pilot studies for spinal muscular atrophy, Duchenne muscular dystrophy, and a new pilot study to examine 13 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. Dr. Caggana and her staff also routinely share their expertise in developing and implementing these screening protocols with their counterparts from other states.