Primary Care Patients’ Views, Attitudes, and Decision-Making Factors Regarding Direct-to-Consumer Personal Genome Testing: Results From a Qualitative Study

Background: Direct-to-consumer personal genome testing (PGT) is a relatively new service where thousands to millions of single nucleotide polymorphisms, or common genetic variants, are examined and variable risk estimates for diseases and conditions are given. Such genetic testing is available directly to the public and raises ethical, scientific, regulatory, and clinical issues. Limited empirical research exists about how primary care patients view PGT. The goal of this exploratory study was to assess the attitudes and views, decision-making factors, and ethical considerations of primary care patients about direct-to-consumer PGT. Methods: This qualitative study involved recruiting primary care patients from an urban academic medical center clinic and conducting four focus groups (n = 29). Participants were questioned about their views, attitudes, and decision-making considerations regarding direct-to-consumer PGT. Grounded theory methodology was used to analyze the data for categories that emerged from the focus group discussions. Results: Three primary categories emerged from the data analysis: (I) the worth of direct-to-consumer PGT; (II) motivations for testing; and (III) concerns about testing, including ethical issues. Participants reported that they were motivated to test by a desire for information about themselves and for their families, the potential for intervention and prevention of disease, and altruism. Concerns expressed included questions about the accuracy and reliability of this testing, interpretation of results, anticipated risks of revealing results, and ethical issues including confidentiality. Conclusions: This study describes in detail the decision-making considerations of primary care patients about direct-to-consumer PGT. Participants articulated motivations for and potential benefits of PGT, along with perceived concerns, risks, and ethical issues raised by such testing. The study highlights the need for further examination of whether and how these considerations influence decisions and actions of additional primary care populations.