Abstract
Genetic tests have traditionally been offered by health professionals. However, genomic tests have been available direct to the consumer for the last decade, increasingly via the Internet. The aim of this systematic review was to ascertain the evidence concerning use of direct-to-consumer genomic testing from the consumer perspective. Primary research was identified using the search terms ‘direct-to-consumer’ and ‘genomic or genetic’ in six bibliographic databases and citation searching of findings. In all, 17 papers were reviewed: 3 qualitative and 14 quantitative. Findings indicate a low level of awareness of direct-to-consumer genomic testing and, because of the hypothetical nature of many studies, little evidence from users of such tests. Although potential users appear to be interested in information about their risks of developing common diseases, concerns were expressed about privacy of genetic risk information and the reliability of genomic tests. Consumers were anxious about the nature of the results. There appeared to be a preference to access genomic tests via a health professional, or to discuss the results and obtain advice from a health professional. Authors of only two papers recruited participants who had used direct-to-consumer tests and samples from the large quantitative studies were not representative of the population. These factors limit the value of the available evidence. However, we conclude that there is public interest in direct-to-consumer genomic tests, and that this is likely to result in an increased workload for a range of health professionals. We also consider that there are educational implications for both consumers and health professionals.
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Acknowledgements
This study was undertaken as part of the work of Unit 2, Work Package 7 of the EuroGentest2 Coordination Action 2011 project. The project is funded by the European Commission, EU Contract no.: HEALTH-F4-2010-261469. We thank Professor Helena Kaariainen for her helpful comments on the text.
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Goldsmith, L., Jackson, L., O'Connor, A. et al. Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. Eur J Hum Genet 20, 811–816 (2012). https://doi.org/10.1038/ejhg.2012.18
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DOI: https://doi.org/10.1038/ejhg.2012.18
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