Public Health Perspective on Newborn Screening for Hemoglobinopathies

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The information presented during this conference has more than adequately demonstrated that the early identification of newborns with sickle cell disease, the administration of comprehensive care to newborns, including penicillin prophylaxis, and public education about the disease can greatly reduce infant and childhood morbidity and mortality. Screening for the hemoglobinopathies has been a controversial topic for two decades. Many states, including Massachusetts, responded to the political pressures of the civil rights movement of the 1960s and the identification of sickle cell anemia as the "neglected disease" by hastily passing sickle cell testing legislation, which, unfortunately, resulted in the establishment of many poorly planned sickle cell screening programs. This situation was confirmed by the 1983 President's Commission Report on Screening and Counseling for Genetic Conditions, in which serious problems with many of the existing sickle cell disease and carrier screening programs were pointed out, including unclear program objectives, poorly chosen target populations, lack of confidentiality of results leading to discrimination and stigmatization, and inadequate incorporation of genetic counseling and public education into the programs. Although we now know that the appropriate time to screen is the newborn period, and we have available an effective treatment for the complications of sickle cell disease, concerns still remain. From a state health department perspective, sickle cell screening programs that include all babies born (universal) are more appropriate than those that target babies of certain ethnic backgrounds. Because it is often difficult to determine ethnic background, especially in the newborn period, targeted screening would inevitably mean missing some babies at risk and affected babies.