Testing Times

The book Saving Babies explores the realities of newborn genetic screening.

By Pei Koay | June 2, 2016

Stefan Timmermans and Mara Buchbinder. Saving Babies? The Consequences of Newborn Genetic Screening. Chicago: University of Chicago Press, 2013. 320 pp. $30.

Newborn genetic screening saves lives: this is the message promoted by policy makers, patient advocates, and other supporters of expanded newborn screening. This procedure—which began as a single test for one disease—now includes well over two dozen possible tests. Newborn screening is currently performed on nearly every baby born in a U.S. hospital. A happy ending? Not exactly, according to the authors of Saving Babies. The book explores the realities of expanded screening for families and professionals, showing us that science, technology, and policy don’t always work smoothly when applied to the real world.

In the early 1960s phenylketonuria (PKU) was the first disease to be screened in newborns. If left untreated, this rare, inherited metabolic condition causes irreversible mental damage. But as with many metabolic diseases the effects of PKU can be averted or mitigated by maintaining a specific diet or by taking medication if the disease is identified early enough. In the mid-1970s newborn screening began to include testing for other treatable conditions like congenital hypothyroidism. Into the 1990s testing broadened to include more complex conditions, such as cystic fibrosis, that have no effective treatment.

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During the past 50 years newborn genetic screening has expanded to include more than two dozen tests.

National Library of Medicine

In Chapter 1 authors Stefan Timmermans and Mara Buchbinder give the history of the newborn screening movement. Testing originally could screen for only one condition at a time, but starting in the 1990s new technology, tandem mass spectrometry (MS/MS), made it possible to screen for many conditions and diseases at the same time using a single drop of blood. (Currently, MS/MS can detect more than 50 targeted abnormalities in a small blood spot in less than 2 minutes.) Yet expanded screening developed slowly since each new condition required a new test. In turn, every added test necessitated more investment at the state government level, causing newborn screening systems to evolve at different rates across the country. At the turn of the new millennium the only tests mandated by all states were for congenital hypothyroidism and PKU.

At the same time, developments in medicine and technology, rising health-care costs, and activists pressing for a national screening policy all helped promote expansion of newborn screening. Experts debated, reviewed, and developed guidelines. In 2005 an expert panel suggested 29 “core panel” conditions for all states to consider including in their screening tests. While critics charged that the report did not provide convincing arguments or data, patient-advocacy groups, such as the March of Dimes, endorsed it. In 2005, 23 states adopted policies to test for more than 20 of the recommended core conditions. By 2010 all states screened for 27 of the 29.

Saving Babies portrays the consequences of the expanding use of these technologies through accounts of the families and caregivers who use them and the health professionals who put state-mandated policies into practice. The uncertainty surrounding the technology and its results is one of the book’s most important themes. Timmermans and Buchbinder argue that there always have been and always will be uncertainties in science and technology. In Chapter 2 the authors show how a hospital’s genetics team managed ambiguous diagnoses. At issue was not only whether a baby would develop a metabolic disorder but also whether the screened condition was actually a disease. Parents of newborns might be surprised to learn that MS/MS screens for the presence of biochemical abnormalities, which in turn may or may not lead to disease. In other words, having certain abnormalities does not always mean that the associated disease will develop. The authors call these babies “patients-in-waiting,” on the “borderland between true and false negatives”—between normal and sick.

For the authors—one a sociologist of biomedical work and the other an anthropologist of biomedicine—prevention is too limited a framework for newborn screening policies. According to them the reasoning behind the policy—that early detection and intervention can help prevent the most serious consequences of disease—does not reflect what happens in practice. Ambiguity, uncertainty, and unexpected findings continue to arise for the genetic professionals and parents involved. Chapter 5 speaks to the limits of prevention by focusing on the care of children who developed symptoms of metabolic disorders despite screening and early diagnosis.

Timmermans and Buchbinder do a great job of showing how families and professionals manage and negotiate different types of uncertainty engendered by the expanded policy and new technologies, and one could read this volume purely for these accounts. However, this is not a casual read: the authors take on the health-policy framework that reduces policy research to measuring “health outcomes” and ignores the uncertainties faced by parents and doctors.