Genomics, Big Data and Privacy: Reflections upon the implications of direct-to-consumer genetic testing

Resumo

This paper investigates epistemological and ethical implications of the growingavailability of direct-to-consumer genetic testing for the science and society. Direct-toconsumer genetic testing is characterized as the genetic testing sold directly to consumerswithout any assistance from professionals. By offering empowerment and control, companiesconvince consumers to sequence their genome by granting the company access to theirgenetic data in exchange to results that are not always accurate. To which extent doconsumers properly understand the results of their genetic testing? Are consumers aware ofthe possible implications for disclosing genetic information to private companies? I addressthese questions in two steps: firstly, I discuss epistemological implications of thedevelopment of Genomics, understood as a data-intensive science, by delving into thetheoretical 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 adata-rich world. Finally, I draw some conclusions on the possible consequences of direct-toconsumer genetic testing by suggesting key-concepts that may help to clarify the limits andscope of genetic testing.