- Saving Babies?: The Consequences of Newborn Genetic Screening by Stefan Timmermans and Mara Buchbinder
prenatal diagnosis, disability, public health
Sociologist Stefan Timmermans and anthropologist Mara Buchbinder have written a smart, sensitive, and compelling ethnography of the consequences [End Page 515] of newborn genetic screening for babies who receive a positive test, for their parents, and for the clinicians and clinic staff who treat them. Their interview-and observation-based research was centered at a clinic specializing in the metabolic disorders for which the test screens, but reached out into the homes of diverse patients and their families as well.
Since 2005, expanded newborn genetic screening has developed into an enormous public health program, and it is universal and compulsory in most states. Its boosters include genetics research organizations, patient and maternal–child health advocacy groups, companies that sell a range of genetic screening tools, and the Centers for Disease Control. Supporters supply a clear-cut narrative justifying universal screening: children with undiagnosed and untreated metabolic disorders typically suffer developmental impairment, brain damage, and often, early death. Diagnosis at birth allows early treatment, and children who would have otherwise suffered devastating damage may instead be able to lead relatively normal lives. In policy settings, moving testimonials from parents, orchestrated by advocacy groups such as the March of Dimes, give emotional and moral power to the standard narrative.
Timmermans and Buchbinder demonstrate that this narrative, however, represents only one sliver of the full consequences of universal screening. Drawing on several years’ field research, they share an additional set of stories, which trouble the public policy narrative: a family nearly torn apart by many months of wondering whether their baby was afflicted, only to be eventually told it was a false-positive diagnosis; families who went through considerable trouble, expense, and anxiety to treat children who probably did not need treatment and may have been harmed by it; families who could not afford to provide the resource-intensive treatments necessary to keep their diagnosed children from suffering; families who received early diagnoses and did everything possible only to see their children die anyway; doctors who believed in screening and urgently wanted to help patients, but sometimes wondered if they were having an impact. Timmermans and Buchbinder remain sympathetic to the goals of newborn genetic screening, and do not recommend that it be abandoned, but they insist that the entire story, the bad with the good, be taken into account.
They begin with a historical chapter, focusing first on the history of phenylketonuria screening and the subsequent narratives about it that were brought to bear on debates about expanded screening. Some told a cautionary tale, in which screening was instituted long before it was prudent, and it was only by luck that the treatment was actually effective and did not do much collateral damage. Others told a success story, in which spirited activism animated a policy move necessary to save children’s lives, and scientific and clinical expertise caught up. The success story proved more compelling in policy arenas, and expanded newborn genetic screening became a reality. [End Page 516]
Subsequent chapters draw upon empathetic, insightful ethnographic observation and interviews to delve into specific ways in which newborn genetic screening creates a host of complicated and often unintended consequences. The analysis is informed by a broad array of theoretical literature from science studies. Explicit reflections on this theory dot the analysis, and while these will be profitable to those with a more theoretical bent, they may be skipped without detracting from the value of the more historical and ethnographic sections. In one chapter, Timmermans and Buchbinder consider the frustrating liminal status of “patients-in-waiting,” whose parents may spend months or a year waiting for a definitive sign that their child does or does not have a metabolic condition. (Newborn genetic screening does not actually map the genome; rather, it uses biochemical markers to try to detect genetically linked metabolic disorders.) In the next, they consider how the...