Direct-to-consumer genetic testing (DTC-GT) allows individuals to obtain genetic tests directly from companies without necessarily involving health professionals. This study explores genetic health professionals' opinions of health-related DTC-GT and the reported frequency of individuals presenting to clinical genetics services after undertaking testing. Genetic counsellors and clinical geneticists, members of the Human Genetics Society of Australasia, completed an online survey in mid 2011. The 130 genetic counsellors (estimated response fraction¼43%) and 38 clinical geneticists (estimated response fraction¼46%) had mixed opinions regarding DTC-GT, with only 7% confident in accurately interpreting and explaining DTC-GT results. Nineteen respondents (11%) reported one or more client(s) referred to them after undertaking DTC-GT. Descriptions of 25 clients were extracted from responses, and respondents reported that all clients were concerned for the health of either themselves or family members. Most clients presented to genetic clinics specifically as a result of their DTC-GT (96%) and were self or GP referred (92%). Respondents perceived that their clients typically undertook DTC-GT because they wanted to identify monogenic conditions, including carrier testing and/or know their susceptibility or predisposition for complex conditions (88%). The majority of clients needed help interpreting DTC-GT results (80%), however in general were not questioning the validity of their DTC-GT results (92%) nor seeking further genetic testing (84%). Currently, DTC-GT is not a major reason for referral to clinical genetics services in Australia and New Zealand and the majority of genetic health professionals lack confidence in being able to accurately interpret and explain DTC-GT results. European Journal of Human Genetics (2012) 20, 825-830; doi:10.1038/ejhg.2012.13; published online 8 February 2012Keywords: direct-to-consumer; health professional; genetic testing; genetic counsellor; attitudes
INTRODUCTIONMany direct-to-consumer genetic tests (DTC-GT) have unknown clinical validity and utility, 1-3 and their use to assess disease risk is therefore controversial. In addition, the personalised genetic risk information provided by DTC-GT may be interpreted solely by consumers without guidance from appropriate health professionals. For example, in a recent longitudinal cohort study to measure the effects of DTC-GT, only 10.4% of subjects reported discussing their results with one of the genetic counsellors provided by the testing company. 4 Un-informed interpretation of genetic test results may inappropriately heighten health-related anxiety or apathy and subsequently lead to poor life choices; however, this has not been proven. There is also potential for other psychological effects on consumers due to lack of knowledge and support. The long-term demands on health services and impact on health behaviour as a result of DTC-GT are yet to be established.Various publications have identified a number of other issues with ethical, leg...