Direct-to-Consumer Personal Genetic Testing

Abstract

As genotyping technologies have precipitously decreased in cost since the completion of the Human Genome Project, personal genetic testing has increasingly been marketed to consumers. Genetic predisposition testing is now available for an ever-expanding list of genetic mutations associated with diseases including breast cancer, Parkinson's and Alzheimer's diseases, as well as qualities such as ancestry, intelligence, and athleticism. These tests that are sold to consumers over the internet, outside of the health care system, are part of an emerging industry of direct-to-consumer (DTC) personal genetic testing. The DTC personal genetics industry provides consumers personal genetic information that interprets genotypic data into categories of relative risk and probability. Scientific and economic developments in the field of human genetics have produced a changing landscape of genetic products and services available to the public, which has fueled policy debates over questions of access, clinical and personal utility, and privacy. In addition, DTC personal genetic testing has been a focus of discourse on the potential for geneticization of social identity and questions over the meaningful extrapolation of individual genetic differences for group memberships. DTC personal genetic testing has challenged traditional approaches to genetic tests to a model of open access. The turn to the market creates new ethical, legal, and social questions as DTC personal genetic testing shifts responsibilities from the health care provider to the consumer, posing questions over who may interpret genetic information and for what purposes.