Susan Waisbren, PhD
Associate Professor of Psychology
Harvard Medical School/Children’s Hospital
Department of Psychiatry

MRRC Project(s)

R01 HG02085-01
Expanded Newborn Screening for Metabolic Disorders

Despite the potential of expanded newborn screening for biochemical genetic disorders as a significant advance in preventive medicine, there are serious concerns about its social, ethical and legal implications. These concerns apply to identification of the disorders as well as to the false positive results that occur. The arguments for and against expanded screening generally are related to the medical issues, the ways in which parents will respond to the information, and how the child will be perceived by society. With technology, particularly tandem mass spectrometry (MS-MS), as a driving force, there is the possibility of expanding screening for an even larger number of genetic disorders. It is important to study the ethical, social and legal implications of these programs now when they are new and still amenable to change.

The aims of this study are to: 1) compare newborn identification of biochemical genetic disorders by expanded screening with clinical identification, in terms of the interaction between the parents and the health care system and the elements of health outcome for the child and family; and, 2) assess the impact of false positive identification in expanded newborn screening in terms of parental response and interactions with the health care system.