Testing baby: Parents' perspectives on genetic diagnosis

This dissertation examines the impact of diagnostic processes on parents, with particular focus on how newborn screening is changing the way they perceive and experience their children's genetic disorders. What is the effect of knowing one's child has such a disorder at birth, and how is this experience different from that of knowing later, after symptoms of the disease emerge? How is it different from knowing earlier, before birth? How is newborn screening changing the relationship, for affected families, between medically-defined "disease" and socially-defined "illness"? In qualitative interviews with parents who learned about their child's genetic disorder in various ways---i.e., prenatally, through newborn screening, or after the emergence of symptoms---I have asked how the diagnostic process unfolded for them, and how their lives were changed as a result. I have also asked more specifically about whether and how the diagnostic process influenced their perception of their child; their parenting practices; and their relationships with health-care professionals. My analysis draws heavily on sociology of families, sociology of science, and sociology of health and illness.; Recently, technology has emerged that makes it easy and inexpensive to screen infants' heel blood for large numbers of disorders. Eagerly, and with unprecedented speed, policy-makers have seized the opportunity to add more and more new conditions to state newborn-screening panels. The manifest function of newborn-screening policy in 2005 is still to prevent disease or, when that's not possible, to lessen its effect. But my interviews with parents highlight many other consequences of testing, including its substantial influence over the entire context of early parenting, over intra-familial relationships, and over the balance of power and the process of collaboration between parents and their health-care providers. My dissertation research illuminates underexamined aspects of the current technological shift in childhood genetic diagnostics; gives voice to a broader range of parental narratives about their experience of this shift than is generally found in either the popular or the scientific literature; and examines newborn screening as an increasingly important aspect of the "new public health" and its prevailing discourse about risk.