Ethical Concerns and Implications of Expanded Carrier Screening

Author

Emily Andres, Utah State University

Date of Award

5-2025

Degree Type

Thesis

Degree Name

Departmental Honors

Department

Biology

Abstract

The rapid evolution in the field of genetics is often met with uncertainty and skepticism. With the advancements in genetic technologies, expanded carrier screening (ECS) has emerged as a powerful tool in reproductive medicine. Traditionally, carrier screening was provided less broadly, often relying on ethnic-based approaches. However, further advancements have deemed this practice no longer equitable or widely accepted. While ECS provides prospective parents with insight into their genetic risk and may prevent severe genetic conditions, it also raises serious ethical questions for many. These concerns span medical, political, and societal facets including medicalization, defining severity, abortion, legislation, insurability, the disability rights critique, and cultural/religious perspectives. This paper serves as a literature review introducing the history of ECS as well as interpreting and analyzing information from a collection of sutdies regarding the implications noted above, and proposals for implementing equitable universal screening. Additionally, this paper will review a pending case study concerning a patient who had several pregnancies with abnormal ultrasound findings before undergoing screening and learning of her positive carrier status. This case demonstrates the inaccuracies of ethic-based screening as well as the importance of offering universal ECS. While ECS has the potential to inform reproductive decision-making, it is crucial that these challenges be addressed before ECS can be implemented universally.

Recommended Citation

Andres, Emily, "Ethical Concerns and Implications of Expanded Carrier Screening" (2025). Undergraduate Honors Capstone Projects. 1013.
https://digitalcommons.usu.edu/honors/1013