UC Berkeley

This dissertation explores the routinization of prenatal genetic testing in the United States’ precision medicine landscape. It investigates how these technologies shape perspectives on reproduction, health, and disability, and probes the ethical implications of their widespread use. I ask, how does the “appropriate” use of prenatal genetic technologies come to frame certain existences as meaningful and worthwhile while others are seen as unwanted and less valuable? I also explore the role of experts in both implementing and interpreting these technologies during medical research as well as patientcare. The study reveals how the routine use of prenatal genetic technologies positions disability as an undesirable social harm, narrowing our tolerance of difference and amplifying the imperative to use these tools to reproduce ‘judiciously.’

The first empirical chapter delves into Wrongful Birth and Life legal disputes in prenatal testing. It reveals how courts have ushered the technological imperative around prenatal genetic tools and enshrined disability as an unwanted private burden. In the second, I unpack the social making of genetic diagnostic categories. Focusing on sex chromosome aneuploidies, this chapter offers an in-depth examination of gendered pathology and the medicalization of genetic variations as ‘abnormal’ existences. The final empirical chapter centers on experts and expertise. It illuminates how reproductive physicians and genetic counselors organize expertise and responsibilities around prenatal testing, emphasizing possible transformations in which groups are influencing the forefront of genomics and equitable patientcare.

I employ mixed qualitative methods. I conducted in-depth interviews (20 with reproductive physicians, 20 with genetic counselors, and 20 with patients). Further, I completed ethnographic observations at professional genomics conferences, a genetic counseling master’s program, and consultations between patients and genetic counselors. I also relied on content analysis, using a Python-assisted web scraper to gather text-based exchanges about prenatal genetic testing on Reddit. Finally, I conducted archival research on Wrongful Birth and Life cases from 1963-2021.

There are significant consequences surrounding genetic technologies, systematic de-selection of disability, reproductive pressures, and the enduring history of eugenics. As prenatal genetic innovations become more precise, capable, and accessible, it is essential to implement them toward a more inclusive and just society. To be sure, prenatal genetic testing is not inherently harmful; rather, harms result from how we systematically employ these tools to treat disability as objectively unwanted. In that vein, this dissertation is an endeavor to pave the way for a more equitable and compassionate future in prenatal testing, where inclusive social infrastructures parallel technological innovation.