Social and Scientific Implications of Genetic Testing in the Digital Age

Author(s)

Yaruska A. Ordinola, University of Rhode IslandFollow

Major

Anthropology

Second Major

Psychology

Advisor

Goldsmith, Marian

Advisor Department

Biological Sciences

Date

5-2016

Keywords

personal genomics; genetics; public health; public perception; 23andMe

Creative Commons License

This work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 License.

Abstract

From Mendel’s law of inheritance in the 19th century through Watson and Crick’s revolutionary observations of the double helix in the 20th century, genetics has been a fascinating and continuing topic of discussion in the field of science (Collins & McKusick, 2001). Major studies like the Human Genome Project (HGP), initiated in 1990 and completed in 2003, provided a starting point from which scientists could more thoroughly investigate the human condition on a genetic level. Arising from this study, personal genomics is considered a blooming field in genetics- in which rapidly developing technological advances are able to provide easier and cheaper access to genetic testing methods. Although genetic testing is used as a tool for medical examiners in order to determine an individual’s potential for detrimental diseases, genomic companies also seek to use this developing technology in order to provide an opportunity for the public to have open access to personalized genomic testing (Bandelt, Yao, Richards, & Salas, 2008).

As new policies and regulations emerge from the rapidly growing field of personal genomics, the objectives of this project focus on an overview of accumulating literature reviews about the integration of new scientific methods in personal genomics and their public interpretation and understanding. In an attempt to determine how commercialized genomic companies present their results, this project will also focus on the social implications in the public interpretation of this information. In addition to evaluating how public genomic results are presented, this project also focuses on identifying different methods used by genomic companies for sequencing. In the process of differentiating different methods, this project explores online public access to genomic research databases, and uses personal genotyped results provided by the company 23andMe to learn how to utilize these online databases efficiently. In sum, this project explores new scientific developments and methods in the field of personal genomics, with an interdisciplinary approach that examines the potential effects of genomic information on public perception about genetics, personal genomics, and healthcare.