Direct-to-consumer genetic testing

So-called direct-to-consumer genetic tests (DTC-GT) are usually commercial offerings by private companies to perform comprehensive screenings on individuals. This service is offered through cooperation partners such as fitness studios and pharmacies as well as directly through the Internet. The most typical areas of application are sport and nutrition, but life expectancy and ancestry analyses even genetic evaluations regarding the choice of suitable partners are being offered as well.

Companies furthermore offer screenings on medical risks. However, critics doubt the predictive value of the DTC tests: The database is too complex to allow simple interpretations on the basis of individual tests. For appropriate information prior to a predictive genetic test as well as the adequate interpretation of the test results, the consultation of a specialist in human genetics is absolutely necessary. In particular when deriving medical incidental-findings and/or psychologically stressful findings, medical supervision is indispensable. Furthermore, in the case of DTC-GT it is neither possible to verify the informed consent nor the identity of the test participants beyond doubt. This would be necessary to protect the personal rights of the test participants. In addition, there is a general privacy issue in the transmission and preservation of genetic data, especially since providers from abroad do not have to comply with national legislation.

In Germany, the application of these test methods is therefore to be aligned with the quality standards from the guidelines of the German Medical Association and the specifications in the German Genetic Diagnostics Act (GenDG). Further regulations in Germany, but also comprehensive regulations of the DTC-GT on the European and international level will be discussed in addition.

For further background information see: 

Third activity report of the Genetic Diagnostics Commission (GEKO) April 2019 Online Version (German)

Opinion of the German Ethics Council: “The future of genetic diagnosis – from research to clinical practice” April 2013 Online Version

Opinion of the German National Academy of Sciences (Leopoldina): “Predictive Genetic Diagnosis as an Instrument of Disease Prevention” November 2010 Online Version (German) 

The view from the European Academies Science Advisory Council (EASAC) and the Federation of European Academies of Medicine (FEAM): “Direct-to-consumer genetic testing for health-related purposes in the European Union” July 2012 Online Version

Rafiq, M. / Ianuale, C. / Ricciardi, W. / Boccia, S. (2015): Direct-to-consumer genetic testing: a systematic review of european guidelines, recommendations, and position statements. In: Genetic Testing and Molecular Biomarkers 19 (10), 535–547. doi: 10.1089/gtmb.2015.0051. Online Version

Hoxhaj, I. / Stojanovic, J. / Sassano, M. / Acampora, A. / Boccia, S. (2020): A review of the legislation of direct-to-consumer genetic testing in EU member states. In: European Journal of Medical Genetics 63 (4), 103841. doi: 10.1016/j.ejmg.2020.103841. Online Version

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