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Direct-to-consumer (DTC) genetic testing (GT) is a relatively novel model of provision of GT, which has challenged the traditional practical and ethical frameworks established to manage both research and clinical genetics. DTC genetic tests are sold and/or advertised directly to individuals, usually through the internet, bypassing the conventional genetics clinic and often omitting medical supervision through a healthcare professional (HCP) and genetic counselling. Saliva collection kits allow consumers to send biological samples directly to company laboratories where DNA is extracted and analysed; the results (interpretation of genotypes) are then returned by mail, online or by phone. Different DTC-GT companies offer different services including different numbers of single-nucleotide polymorphisms (SNPs) tested (from one, a few dozens or hundreds of thousands). They can also deliver genetic information concerning different non-disease-related or disease-related phenotypes, that is, ancestry, paternity, carrier testing, predictive testing, pharmacogenomics or food intolerances. This model of provision has generated a plethora of debates in the past years regarding its potential benefits and drawbacks as well as how to best manage and regulate these activities.1 A concrete attempt at reining in some of these commercial activities was taken in December 2013 when the US Food and Drug Administration (FDA) demanded that the company 23andMe stop offering its genome-wide SNP testing ‘Personal Genome Service’ (PGS, which returned information for a multitude of disease-related SNPs), without approval or marketing clearance.i As a consequence, the company stopped marketing the PGS in the USA, but continued to market ancestry testing there. They later began offering a ‘personalised DNA service’ similar to the PGS outside of the USA, in countries like Canada, the UK, the Netherlands and …
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