An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

Abstract

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...

The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes

“…In addition, there are issues for equity of access to health information, when private provision is determined by ability to pay, and for the potential for public confidence in genetic testing more generally to be undermined by controversy about DTC services. 28 While one recent study 29 found that DTC genetic testing is not yet a major reason for referral for follow-up with clinical genetic services in Australia and New Zealand, analysis from the United States 30 indicates that a relatively high proportion of subjects using DTC genetic testing services discussed the results with their own physician-and this has resource implications.…”

Primary care patients’ views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study

“…Some argue that science is in its infancy and that results are not valid or accurate enough to warrant mass marketing of the tests (American College of Medicine Genetics Board of Directors 2004; Committee on Genetics, American College of Obstetricians and Gynecologists 2008;Federal Trade Commission 2006;Hudson et al 2007). Others' concerns lie with the potential burden these tests could have on the limited resources of the medical system (Brett et al 2012;Burke 2008, 2011;White et al 1999). If consumers used these tests and received unfavorable results, they might overwhelm their physicians' offices requesting help with understanding and interpreting DTCGT results and/or additional testing or screenings for conditions for which they may or may not be at high risk (Giovanni et al 2010).…”

Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing

“…[14-16] Hock et al . gathered data in 2008 on the knowledge and beliefs of 312 American genetic counsellors, almost half of whom had at least one patient initiate a discussion on DTC GT in the last 2 years and 14% had been asked to discuss or interpret DTC genetic test results[16].…”

“…These 22 providers who performed a DTC GT consultation represent 16.5% of the 133 providers who completed the study questionnaire [15]. Brett et al [14] recently reported on the experiences of 130 genetic counsellors and 38 clinical geneticists (members of the Human Genetics Society of Australasia); they focused primarily on the description of 25 clients who had consulted 19 healthcare professionals regarding DTC GT. Six empirical articles focusing primarily on physicians' views of, and/or experiences with DTC GT have been published to date.…”