Genetic Regulation of Circular RNA Smooth Muscle Cells and Vascular Traits; An Unanticipated Consequence: The Loss of Genetic Privacy in the Genetic Testing Age

Lue, Dillon, School of Engineering and Applied Science, University of Virginia
Neeley, Kathryn, EN-Engineering and Society, University of Virginia
Civelek, Mete, MD-BIOM Biomedical Eng, University of Virginia
Aherrahrou, Redouane, MD-CPHG Ctr for Public Health Genomics, University of Virginia

The impact of engineers is undeniable but often understated. On the surface, engineers solve problems to improve the quality of life. A good engineering problem is often constrained. Within those constraints, engineers can apply rigorous science and mathematics to solve problems. Such an engineering mindset has created buildings, cars, and computers to name just a few achievements. Not as well appreciated, the impact and scope of technology extends far beyond the initial problem, constraints, and science/mathematical technicalities. Technology shakes our culture and social fabric. In my thesis, I aim to demonstrate this insight utilizing genetic testing as an example. The technical portion of this thesis aims to improve the clinical interpretability of genetic tests. The Science, Technology, and Society (STS) portion of this thesis focuses on how rapid advances in genetic testing may decrease our value for genetic privacy.

The leading causes of death worldwide include cardiovascular disease, cancer, and obesity. Being an early diagnostic marker for disease, genetic tests identify mutations in our DNA to generate risk scores for disease. Existing genetic tests rely mostly on associations of DNA with disease risk across hundreds of thousands of individuals. Problematically, these associations do not imply causation and thus do not give specific clinically actionable recommendations for treatment. Thus, the scientific community aims to identify the changes in biomolecules within particular cell types that explain these risk scores; identification of the biomolecules could suggest administration of specific personalized drugs to specific cells to counteract our genetic risk of disease. Under this scientific endeavor, my technical thesis identifies 9 smooth muscle cell circular RNAs, a specialized type of biomolecule, that mediate the genetic risk for vascular related diseases. These circular RNAs may be relevant biomarkers or drug targets for vascular related diseases.

While the primary effect of genetic testing is at the clinic, my STS research argues that the impact of genetic testing extends into our cultural value for genetic privacy. More specifically, I argue that a discourse of technological inevitability, which focuses on technical achievements of genetic testing, has ignored the potential cultural side-effects of genetic privacy loss. The information age is a consequence of large-scale data information centers and the associated algorithms to draw insight from such data. The next wave of genetic tests is no different. Our ability to sequencing DNA has increased faster than computer chips – Moore’s Law. Thus, companies and research organizations have begun collections of biobank scale datasets containing the genetic information and electronic medical records of millions and soon billions of individuals. The collection and aggregation of genetic information makes genetic information more public which violates are value for genetic privacy. Thus, our cultural understanding about genetic information will likely change. Like how collecting audio and video has become almost trivial, so too may DNA sequencing become as widespread and trivial. To continue the analogy, just as people hope that no one secretly records their private conversations, so too will people hope that their DNA will not be sequenced without their consent. With the rise in sequencing technology, we must be prepared to develop a more public notion of genetic information.

The technical and STS thesis together gave me a better appreciation for the profound impact of the engineer’s relationship with the future of humanity. While I have always felt a sense of fulfillment from solving math problems (in my youth) or engineering-based research (in university), my sense of fulfillment and responsibility has greatly expanded after recognizing the large-scale social and cultural impact of technologies. Overall, I am highly optimistic of a future of precision medicine utilizing genetic tests and personalized drug administration. Also, I recognize how advancing abilities for sequencing DNA may result in a loss of genetic privacy. Going forward, I aim to keep an open mind about the broad implications of my work.

BS (Bachelor of Science)
cardiovascular disease, genetic testing, genetic privacy, circular RNA, quantitative trait loci mapping

School of Engineering and Applied Science
Bachelor of Science in Biomedical Engineering
Technical Advisors: Mete Civelek, Redouane Aherrahrou
STS Advisor: Kathryn Neeley

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