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Within forty-eight hours after birth, the heel of every baby in the United States has been pricked and the blood sent to a laboratory. There it will be tested for the many disorders the baby’s birth state has mandated for universal screening. Almost always without parental consent, and often without parental knowledge or understanding, the newborn’s blood is analyzed for molecular clues to her future. Many of these tests do what the highly regarded newborn-screening public health program was originally intended to do: provide information that, if acted on quickly, can be used to protect the infant’s health or even to save her life. Others have much more complex or indeterminate consequences. Some identify variants that may in fact never cause manifest signs or symptoms. Others find mutations that will result in serious or fatal disease for which there is as yet no cure. And in almost all cases, these tests provide information about what at the time of screening are abstractions: genetic traits that have not yet been expressed and will not result in recognizable effects for weeks, months, years, or—for those who are most fortunate—ever. Mandatory, population-wide screening for noninfectious disease is unprecedented in U.S. public health. Until the mid 1960s, it did not exist. Yet by a decade later, every state had begun newborn screening. Why? Largely because advocates compellingly argued that immediate identification of phenylketonuria (PKU)—a serious, early-onset, treatable genetic condition—was the only way to prevent death or permanent disability for affected babies. Newborn screening (NBS) programs continue today, and they do indeed save lives. But they have expanded to cover not just one but up to eighty-plus genetic disorders, many of which are neither classifiable nor treatable in straightforward ways, and with Saving Babies, Changing Lives Chapter 1 1 this expansion have come increasingly to change lives. This book is about those changes. By design, population screening seeks evidence of disease processes before the onset of symptoms. Every member of the group is tested, regardless of whether symptoms of any kind have been shown or specific identifiable risks carried. Most of us have participated in screening programs of one sort or another in the context of primary health care: our blood pressure is routinely taken, for example, and our cholesterol levels measured. Yet as NBS programs grew exponentially at the beginning of the new century, with more and more parents inevitably receiving abnormal results with less and less clear implications for their child’s health, I wondered about the impact of this particular kind of universal screening on families, on identity, and on the role of genetic information in health care and in society at large. I have given birth myself, so I know both from experience and from what I have heard and read how momentous, complicated, and overwhelming those first weeks after birth can be. What is the effect of genetic diagnosis, I wanted to know, when it comes before parents have gotten to know their infant? How might this news shape parenting roles and perceptions of the baby differently from diagnoses that come after the onset of symptoms? How is newborn screening altering the experience, for affected families, of medically defined disease as distinct from the social experience of lived illness? I also wondered how relationships between families and health care providers would unfold in the wake of an abnormal screen. Professional expertise is already a powerful influence on many parents as they navigate their new responsibilities and identities after childbirth. How might the role of expertise be altered for families with an NBS diagnosis, who get the news so close to birth and who have not, in most cases, been meaningfully engaged in decisions to conduct the screening procedure in the first place? I could tell right away that these were good questions when I began asking them of parents whose children were diagnosed with cystic fibrosis. Parents wanted to talk—in detail—about their experiences with diagnostic processes. They told me their rich, complicated, and often heartbreaking stories with very little prompting, pouring out narrative accounts full of just the kinds of nuanced testimony that qualitative researchers hope to have the privilege of hearing. If you had asked me back then what sort of book might emerge from my inquiry, I would have imagined a volume devoted solely to answering legal scholar Ellen Clayton’s trenchant yet long-ignored plea that...

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