Análisis genéticos directos al consumidor: su régimen jurídico en el ordenamiento jurídico español y propuestas de actuación
Romeo-Malanda, S, Analisis geneticos directos al consumidor: su regimen juridico en el ordenamiento juridico espanol y propuestas de actuacion, Hacia una nueva Medicina: consejo genetico, Editorial Comares, Carlos Maria Romeo-Casabona (ed), Bilbao-Granada, pp. 153-175. ISBN 9788490451397 (2013) [Research Book Chapter]
As a general rule, genetic testing are carried out in the medical sector upon referral by a medical doctor. However, in recent years genetic testing offered directly to consumers came onto the market as a new "business model". The problems that arise from this fact are already a big concern for public institutions.
The term "direct-to-consumer genetic testing" (DCGT) is used for testing services offered for health-related genetic variants and polymorphisms. This includes any genetic test available to the public outside the usual medical control system, comprising offers for so-called lifestyle-related genetic testing that provides recommendations regarding diet or everyday life (sports etc.).
Although the access to these can be organised by over-the-counter sales in pharmacies or drugstores, the main channel for direct-to-consumer genetic testing is the internet. A sample of the material to be tested is usually taken at home and sent to a laboratory for analysis. The results from the laboratory tests are communicated to the user by telephone, mail, e-mail or secured internet access.
This method of "bypassing" the medical sector with its established ethical and quality standards has given rise to some concerns, namely: a) the often poor scientific evidence of the clinical validity and usefulness of the testing offered (particularly for common diseases and lifestyle purposes), as well as the testing services; b) the problems of providing proper genetic counselling.
In effect, tests are offered whose clinical validity and utility is doubtful and thus could do harm to consumers who might be misled and insufficiently informed by the direct-to-consumer genetic testing companies' advertisements. We must take into account that the majority of tests offered to consumers directly are tests for susceptibilities, normally meaningless from a scientific point of view, since the clinical validity of most of the tests has not (yet) been sufficiently proven
But the main concern regarding direct-to-consumer genetic testing is obviously that the services offered (via internet or over the counter in pharmacies) cannot live up to the high professional standards of medical and genetic consultation required for normal genetic testing in the context of genetic counselling. Genetic counselling helps people make decisions about their future lives with respect to diagnostic, therapeutic and ethical and practical factors.
The standard case of selling genetic testing via the internet is where a laboratory or a private company offers a kit for sampling tissue material (normally from saliva) which is sent to the consumer; the sample is then tested by a laboratory, and the results are sent to the consumer. One form of supplying direct-to-consumer genetic testing that is under discussion as being particularly problematic is the supply of complete self-testing kits that allow the customer to directly read the positive or negative result of the test from the kit at home, comparable to a common pregnancy testing kit.
In this scenario, it may well be that there is no provision for counselling at all except for the written advice on the webpage. Counselling may be offered as an additional special service at extra costs and at the customer's request. It may also be that a recommendation or at least an offer is given for the customer to contact a doctor or health practitioner from the company via phone for counselling. In other cases, the customer may be recommended to consult his own doctor on the test results. There exists a concern about the fact that a growing number of the tests are being carried out without any counselling at all.
Moreover, one can easily realize of the big issue that the right to privacy has to cope with here considering the possibility offered by mail-order testing of sending a specimen from third parties against their will or without their knowledge, which is even clearer in the case of self-testing kits.
In Spain, there is no specific regulation that explicitly prohibit direct-to-consumer genetic testing. In this work, the author analyses the legal texts that can be of significance in order to establish a legal framework to deal to DCGTs.