Anne Marie Comeau, PhD is Deputy Director of the New England Newborn Screening Program and Associate Professor of Pediatrics at the University of Massachusetts Medical School. The principal focus of Dr. Comeau’s work has been the identification and epidemiology of disease that is detectable in neonates through population-based newborn screening. Technical advances from her laboratory have made sophisticated molecular assays available to patients and providers working in domestic centers and international centers that would otherwise be unable to access such technology. Her early publications include work on the identification of HIV sequences in infected newborns for early diagnosis, the study of mother to infant transmission and evaluation of the efficacy of treatment. More recent publications include evaluations of newborn screening for cystic fibrosis, implications of expanded newborn screening on the healthcare community and recommendations for successful implementation of newborn screening programs such as cystic fibrosis and now including SCID. Dr. Comeau is the Principal Investigator of one of two CDC grant awards to study the feasibility of newborn screening for SCID and has overseen the implementation of the pilot SCID NBS program for Massachusetts.
In April, Dr. Comeau was awarded the 2013 Harry Hannon Laboratory Improvement Award in Newborn Screening by the Association of Public Health Laboratories (APHL). The Hannon Award is an international tribute, presented annually to a person judged by a selection committee to have made significant contributions to improving the quality of laboratory results for the newborn screening system. The award is named for Dr. Harry Hannon, a pioneer in newborn screening and the former chief of newborn screening for the Centers for Disease Control and Prevention.
APHL cited Comeau’s significant role in the advancement of newborn screening in the United States. The association highlighted her tireless research efforts on severe combined immunodeficiency (SCID) detection, the first screen to require a high-throughput DNA-based test and the first screen to include the discipline of clinical immunology. Dr. Comeau’s SCID work involved both laboratory development and the formation of a multidisciplinary SCID newborn screening work group. APHL noted that her research played an integral role in the decision by an advisory panel to the secretary of U.S. Department of Health and Human Services to endorse including SCID screening into the Recommended Uniform Screening Panel for all newborns.