There has been international interest and concern regarding the provision and potential impact of direct-to-consumer (DTC) genetic testing. Whilst the debate has focused on the specific genetic nature of these tests and the risks they pose to consumers and healthcare systems, there has been limited evidence on the size of this market globally. What evidence is available appears to suggest these products are neither popular nor used extensively. Most, if not nearly all, DTC genetic testing has been offered for susceptibility to common diseases with multifactorial causes or for determining paternity and ancestry. It is important to distinguish these types of tests from diagnostic testing.

Different countries have taken various approaches to managing and mitigating the reported risks of DTC genetic testing. These range from Germany - where legislation regulates predictive and diagnostic genetic testing and requires physician involvement - to the UK, where the Human Genetics Commission has developed a framework for voluntary regulation. A key consideration is that any regulatory framework for DTC genetic testing services should be consistent with that for all health-related DTC testing services that claim to be predictive.

Academic reviews of commercially available DTC genetic tests have highlighted their lack of scientific validity, a lack of information about their limitations provided to consumers, the complexity of the results delivered and, in some cases, inaccuracies due to insufficient laboratory quality assurance. Such findings have not provided much support for the uptake of DTC genetic testing. It is not surprising therefore that there has been a shift in market focus to direct-to-physician genetic testing where there is professional oversight of the tests provided and the results obtained. There remains however an international education need to ensure health professionals have sufficient understanding of the clinical appropriateness of genetic testing and the knowledge to interpret the results correctly.

The recent joint policy report on DTC genetic testing by the European Academies Science Advisory Council (EASAC) and the Federation of European Academies of Medicine (FEAM) (see previous news) provides a thorough and balanced review of the current state of DTC genetic testing and also presents policy makers with a range of recommendations to consider. It finds that DTC genetic testing has little clinical value and advises against its use, particularly for serious highly-penetrant disorders, for the purposes of nutrigenomic and pharmacogenetic testing, and for prenatal screening and the testing of minors.

Individual countries will consider and implement these recommendations according to their legal and health contexts. It is to be expected that there will be a range of different approaches from statutory regulation to voluntary codes of conduct.

Laboratory technologies have advanced dramatically in the last decade; far further than the knowledge available to support genetic test development. The challenges now are to ensure that new genetic testing has sufficient analytical and scientific validity, that the results can be interpreted accurately and in a meaningful manner, and that the user - whether healthcare worker or individual - understands how to apply the results. These requirements will not impede innovation but will instead achieve and sustain the rich promise of genomic medicine.

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Mark is responsible for the leadership, development and delivery of the Foundation’s core work programme, as well as contributing to corporate and strategic management as member of the executive management team.

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