Direct to consumer genetic testing

Genetic tests sold on the internet often claim to profile a person’s risks for a wide range of diseases, including diabetes, Parkinson’s disease, and certain cancers.1 The DNA sample is usually taken at home by the consumer swabbing her or his cheek and sent to the laboratory by mail. Results may be communicated over the telephone, by post, or electronically. In 2009, the BMJ published a clinical review that recommended caution when clinicians are asked to interpret test results in patient consultations.2 The recent widening of applications and easy access to direct to consumer genetic tests is likely to increase the number of patients who see their doctor because of a test result that indicates increased risk of disease.3

Urgent calls for regulation of direct to consumer genetic tests have come from a wide variety of international policy arenas as the industry offering these services expands.4 5 In 2010 the Australian National Health and Medical Research Council published a report on medical genetic testing for health professionals, which acknowledged many problems with direct to consumer tests, but also noted that as market …