Abstract

RODRIGUES, Mariana Vitti. Genomics, Big Data and Privacy: Reflections upon the implications of direct-to-consumer genetic testing. Nat. hum. [online]. 2020, vol.22, n.1, pp. 50-70. ISSN 1517-2430.  http://dx.doi.org/10.17648/2175-2834-v22n1-432.

This paper investigates epistemological and ethical implications of the growing availability of direct-to-consumer genetic testing for the science and society. Direct-to- consumer genetic testing is characterized as the genetic testing sold directly to consumers without any assistance from professionals. By offering empowerment and control, companies convince consumers to sequence their genome by granting the company access to their genetic data in exchange to results that are not always accurate. To which extent do consumers properly understand the results of their genetic testing? Are consumers aware of the possible implications for disclosing genetic information to private companies? I address these questions in two steps: firstly, I discuss epistemological implications of the development of Genomics, understood as a data-intensive science, by delving into the theoretical commitments of the concept of gene and the notion of circular causality. Secondly, I reflect upon the privacy risks of taking direct-to-consumer genetic testing in a data-rich world. Finally, I draw some conclusions on the possible consequences of direct-to- consumer genetic testing by suggesting key-concepts that may help to clarify the limits and scope of genetic testing.

Keywords : Direct-to-consumer genetic testing; Genomics; Big data; Circular causality; Privacy.

        · text in English     · English ( pdf )