Intended for healthcare professionals


Direct to consumer genetic testing

BMJ 2011; 342 doi: (Published 21 April 2011) Cite this as: BMJ 2011;342:d2317
  1. Christine Hauskeller, senior research fellow
  1. 1ESRC Centre for Genomics in Society, Department of Sociology and Philosophy, University of Exeter, Exeter EX4 4PJ, UK
  1. c.hauskeller{at}

Regulations cannot guarantee responsible use; an international industry certificate is needed

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 …

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