The Power of Ignorance and the Limits of Knowledge in Prenatal Genetic Screening and Diagnosis
Sequencing the human genome has led to a rapid expansion in the availability of genetic testing. The largest market for such tests is prenatal, and the new standard of care involves testing as early as 9 weeks into a pregnancy for women 35 or older. From just a pinprick of blood, we can now run genetic sequencing on fragments of fetal DNA circulating in a pregnant person’s blood stream. The science is technically wondrous, but such genetic tools also present complications in pregnant women’s lives. My research examines how this new genetic test, known as non-invasive prenatal testing (NIPT) or cell-free fetal DNA testing (Cffdna), and others, are reshaping experiences of pregnancy.
As a simple blood test, NIPT carries far less immediate risk than invasive prenatal diagnostic options (such as amniocentesis, which comes with a risk of miscarriage). NIPT would seem to represent a technologically-mediated revolution of women’s moral agency and reproductive liberty, as it offers women reproductive options earlier in pregnancy. Indeed, most women report feeling informed, prepared, and reassured following a negative test result that shows no genetic anomaly. The adage “knowledge is power” would seemingly apply in this context, as the assumption is that the more information you can obtain about a developing fetus, the better. Yet, bioethicists fear that the non-invasiveness of NIPT will lead to an erosion of true informed consent (Gekas et al, 2016), and the testing process is complicated by contention with the unknown when there is a “positive” diagnosis of a genetic anomaly
When pregnant individuals incorporate these abstract risk calculations into their reproductive decision-making, the result can be incredible anxiety, stress, heartbreak, and feelings of loss of control and disempowerment—the antithesis of the better informed and prepared mother they envisioned when they agreed to prenatal genetic testing. Many wish they had chosen to remain ignorant of the genetic state of their developing fetus, as they feel faced with choosing between two terrible options.
I am currently working on two separate yet interrelated lines of research that incorporate an understanding of how NIPT is changing the experience of pregnancy. I collaborate with clinicians to document variation in women’s understandings, experiences, and perceptions of this prenatal genetic screening. By combining ethnographic methods with a clinical sensibility, this work is meant to inform the translation of NIPT into clinical practice. We plan to disseminate these findings to the academic medical community.
My sociological work situates women’s prenatal testing experiences historically and theoretically, within a rich body of feminist scholarship examining the intersection of knowledge, science, and politics within women’s reproduction. As I am expanding my work to multiple research sites, my research is turning towards examining how socioeconomic class influences the experience of pregnancy. There is much bioethical and political dialogue about reproductive autonomy and choice, yet it is too often abstract and uninformed by the actual people involved. An empirical sociological approach can help us understand the way social location influences how choices are made, and which choices are available to which women.
Eleni Skaperdas is a 3rd year doctoral student in sociology at UCLA, where she is also a National Science Foundation Graduate Research Fellow. She received CSW’s Elizabeth Blackwell, M.D. Graduate Award in 2017.
References
Gekas, J., Langlois, S., Ravitsky, V., Audibert, F., van den Berg, D. G., Haidar, H., & Rousseau, F. (2016). “Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.” The Application of Clinical Genetics, 9, 15–26. https://doi.org/10.2147/TACG.S85361
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