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Ethical, Legal, and Social Aspects and Implications of Direct-to-Consumer Genetic Testing

Final Report Summary - ELSAIDTCGT (Ethical, legal, and social aspects and implications of direct-to-consumer genetic testing)

Direct-to-consumer (DTC) genetic testing can be understood as involving the direct access or ordering of genetic tests without the intermediate of a health-care professional from the traditional health care system and/or the advertising of genetic tests directly to the public. In the two years since this project started (May 2009), the rapid increase in number of companies offering such services has sparked an on-going debate between different stakeholders regarding the related risks and benefits. The overall goal of this research project was to study and reveal the ethical, legal and social aspects (ELSA) of DTC genetic testing.

Specifically we aimed:
1) to offer a description and review of the existing companies, the way they function and the types of tests offered;
2) to address some legal aspects of such testing in North America and Europe;
3) to collect data on the awareness, experiences and attitudes of clinical geneticists regarding DTC genetic testing;
4) to discuss specific types of genetic tests sold directly-to-the public and present them as case studies in order to address a wide variety of ELSA;
5) to disseminate the project results and stimulate international collaborations on research addressing the commercialisation of genetic services.

Our major results include the following:
1) There is a great heterogeneity of genetic tests presently on offer by different companies mostly situated in the United States (US). This heterogeneity means that ethical, legal and social issues may vary with different types of tests and different companies.
2) Furthermore, some DTC companies are allowing for children under the age of majority to be tested for adult onset diseases. This clashes with professional guidelines that state that for predictive genetic testing to be conducted in asymptomatic minors there should be therapeutic or preventive measures available.
3) A number of companies selling DTC genome-wide-testing such as 23andME, deCODE and Navigenics are conducting research using consumers' data. The activities of companies offering DTC genetic testing have not only blurred the lines between medical services and consumer products, but also between these two activities and research. As a consequence, the appropriate treatment and autonomy of individuals who purchase DTC genetic testing services could be undermined.
4) We have also revealed the confusion that exists surrounding the disclaimers that DTC genetic testing companies make on their websites regarding the fact that their services are only educational and have no medical or diagnostic value.
5) Through the study of users' blogs we have revealed that the main motivations to purchase genome-wide-testing DTC are related to: i) health, ii) curiosity, iii) ancestry, iv) contributing to research, and v) recreation.
6) Through a study of guidelines and population biobanks and companies selling genome-wide-testing we reported that there is a paucity of guidance on what to do with samples and data if a population biobank or DTC company closes (i.e. is sold, or declares bankruptcy).
7) By surveying clinical geneticists in Europe we found that more than 80 % of clinicians are aware that DTC genetic testing exists and approximately half have seen at least one patient who had purchased a DTC genetic test. Furthermore, a majority of clinicians do not agree with the offer of genetic testing without face-to-face medical supervision, outside of the traditional health care system with no established patient-doctor relationship. This is especially true for serious medical conditions and for those that are neither treatable nor preventable. Finally the majority of respondents somewhat or strongly agree with the legal banning of genome-wide-testing as well as prenatal gender testing.
8) A study of the legal context showed that France, Germany, Portugal, and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor.

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