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Social Impact of Expanded Newborn Screening for Metabolic-Genetic Conditions

Principal Investigator(s): PI: Stefan Timmermans and John Heritage
Social Impact of Expanded Newborn Screening for Metabolic-Genetic Conditions

Since 2005, newborn screening in the US has expanded dramatically, and now constitutes the largest genetic screening program in the world.  Approximately 4.1 million US newborns per year are screened for more than 50 rare genetic conditions. Many children who receive a diagnosis via newborn screening remain asymptomatic, and thus would not have been diagnosed without population-based screening.Newborn screening technologies have thus altered the day-to-day landscape of early childrearing and development for many families, and, on a broader level, destabilized biomedical and cultural understandings of the relation between the normal and the pathological, between genotype and phenotype, and between the symptomatic and the asymptomatic.This ethnographic and conversation analytic study tracks the development and treatment trajectories of newborns attending a metabolic genetics clinic for follow-up for positive newborn screening results. Using audio-recordings of parent-geneticist interactions and in-depth interviews, the study examines the ways in which parents and medical professionals understand and communicate multiple uncertainties regarding children’s metabolic genetic conditions.