With scientific advances in genomics and technological changes that make accessing health information easier, people are increasingly taking more ownership over their health-related decisions. One way individuals have gained access to health information without the aid of a physician is through direct to consumer genetic testing (DTCGT), which enables people to order genetic tests directly from a company to learn about their ancestry, asses a wide array of potential diseases and health issues, or determine the chances of their children inheriting a genetic disorder. DTCGT companies have therefore become important players in the move towards personalized genomics. Existing research on DTCGT focuses on potential problems in validity and utility, and the burden such practices may place on insurers and health care systems. As yet very little attention has been given to the challenges to individuals’ privacy that arise from private companies having access to, storing, and conducting research using customers’ genetic information. Addressing these challenges is essential to the success of translational genomics and the associated positive health outcomes.

Objectives:

• To examine the content of DTCGT companies’ communication to potential consumers about privacy risks related to use of their services,
• Determine whether companies have and disclose policies for handling customers’ samples and data,
• Assess consumers’ reasons for or against using DTCGT and their understanding of how their data is treated.

Methods: We examined all websites where Canadians could purchase DTCGT in the categories of health (29), relationship & paternity (46), ancestry & genealogy (28), prenatal testing (10), traits & talents (6), and other (23). Sites were assessed based on criteria published in peer-reviewed literature and relative to the most comprehensive industry standards. We then conducted an online survey of Canadian consumers who had purchased (n=168) or considered purchasing DTCGT (n=175).

Results: The privacy information published on the websites varied widely, with some providing clear, complete, and accessible information, while others provided little or no detail. Some companies articulated clear privacy policies with regard to the collection and use of private genetic samples and information, whereas many others seemed to have no procedures in place for protecting customers’ privacy. For their part, consumers were mixed with regard to their privacy concerns. However, of those who chose not to purchase DTCGT privacy, cost, and quality of the results were key factors.

Conclusions: We discuss opportunities for better standardization and best practices for privacy policies of DTCGT companies and how these are communicated to potential and actual clients.