A Computational Pipeline for Studying Functional Genome Organization; 23andMe and Theranos: Contrasting Ethical Strategies and the Advantages of Intention and Leadership

Hickman, Alexandra, School of Engineering and Applied Science, University of Virginia
Neeley, Kathryn, Engineering and Society, University of Virginia
Zang, Chongzhi, Center for Public Health Genomics, University of Virginia

Computational models and genomic methods can be utilized to gauge mutations in genomic data and potentially identify cancer-specific promoters and lead to better cancer treatments. It has been projected that by 2030 the incidence rates for colorectal cancer will increase by 90 percent and 124.2 percent for patients 20 to 34 years of age (Bailey et al., 2015). To learn more about the contributing factors involved in colorectal cancer, my technical project aimed to produce a computational pipeline to identify important oncogenic proteins in colorectal cancer. My sociotechnical project was also related to genomics as I compared two genetic testing companies 23andMe and Theranos to contrast their ethical strategies.

The technical portion of my thesis produced a computational pipeline to identify colorectal cancer promoters. There are many pathways regulating cellular pathways in colorectal cancer which include numerous transcription factors. However, the complexity and number of transcriptional factors make identification difficult. To achieve identification of these transcriptional factors, the computational pipeline incorporated two computational tools, BART3D and HiC-Pro. BART3D was previously developed by the Zang lab at the University of Virginia and is used to create a list of transcriptional factors associated with the specific cancer type. Whereas HiC-Pro was used to generate convert the collected data into data that can be inputted into BART3D. My team’s pipeline identified two lists of transcription factors within colorectal cancer that either promote or inhibit tumor growth.

For my sociotechnical project, I investigated the contrasting ethical strategies of both 23andMe and Theranos using the Design-Inevitability Distinction Discourse Framework. The results of the analysis contrasting the companies 23andMe and Theranos using the Neeley and Luegenbiehl demonstrated that a focus on technology instead of design can lead to failures in identifying key consequences of engineering. One company, 23andMe, prioritized ethical concerns and the importance of being transparent with the public and the users of their product. On the other hand, Theranos failed to acknowledge their faults and remained secretive about their ethical concerns.

My technical and STS projects reveal the importance of both technical and non-technical aspects of innovation. Specifically, it is important to consider the different actors involved in design and to present a problem holistically, including both the good and bad outcomes when examining the implications of a problem. When companies fail to acknowledge their ethical responsibilities, much like Theranos, there are several harmful consequences. The STS project led me to be more mindful of the ethical responsibilities of my technical project and ultimately revealed that there is no shame in admitting the faults and downfalls of a design.

Bailey, C. E., Hu, C.-Y., You, Y. N., Bednarski, B. K., Rodriguez-Bigas, M. A., Skibber, J. M., Cantor, S. B., & Chang, G. J. (2015). Increasing Disparities in Age-Related Incidence of Colon and Rectal Cancer in the United States, 1975-2010. JAMA Surgery, 150(1), 17–22. https://doi.org/10.1001/jamasurg.2014.1756

BS (Bachelor of Science)
Pipeline, Colorectal Cancer, 23andMe, Genetics

School of Engineering and Applied Science
Bachelor of Science in Biomedical Engineering
Technical Advisor: Chongzhi Zang
STS Advisor: Kathryn Neeley
Technical Team Members: Zachary Thomas

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