Wiki Genetics/Genomics and the regulation of Direct-to-Consumer Genetic Testing

The issue of how to regulate Direct-to-Consumer (DTC) genetic testing has been an ongoing story for a number of years (See Hogarth et. al 2008 for a review on the regulatory aspects of the DTC). For those of you who might not be familiar with the topic, DTC is basically what the name says: It involves a test that looks at various, or specific, parts of your genome that in certain ways are associated with disease and other genetic variations (such as ancestry). In the case of DTC, these tests are offered direct to the public via Internet, which means that the local G.P or the health care system can be by-passed in order to obtain this kind of tests.

Now, whether or not the kind of tests currently offered by the DTC-companies actually says anything about the risk of coming down with something nasty in the future is a different story. The ability of the DTC-tests to predict future disease touches upon a larger debate about the usefulness of the so-called Genome-Wide-Association Studies which constitutes one scientific base upon which the DTC companies rest their medical and clinical claims upon. I will not go into that debate as it involves both scientific and technical issues. In the US, the FDA is currently involved in efforts to regulate the DTC business (http://www.genomicslawreport.com/index.php/category/badges/fda-ldt-regulation/), where one of the core aspects evolves around the medical and clinical claims made by the DTC companies.

According to Dan Vorhaus on the Genomics Law Report, FDA´s regulatory target “is not the genomic data but rather the claims – particularly clinical or medical claims – made on the basis of those data” (http://www.genomicslawreport.com/index.php/2011/06/16/dtc-genetic-testing-and-the-fda-is-there-an-end-in-sight-to-the-regulatory-uncertainty/). So, if the companies ditch their claims to provide some sort of medical and clinical claims on the basis of the tests, just providing the customer with the raw data, the FDA might slow down regulatory action. The whole question of regulation of the DTC would then be centered on the right for individuals to have free access to their own genetic information, a much harder regulatory issue to deal with than the accuracy of the medical and clinical claims made by the DTC companies. The question then seems to be who makes the interpretation, or analysis, of the genetic tests? Is this analysis to be provided by DTC Company? Or the local G.P, with whom the potential customer confers before ordering the test? Or maybe by the individual without any external help? It is in relation to the later possibility that Wiki Genetics/Genomics might become an interesting aspect.

Already today you can find free software (for example the Promethease which is provided through the SNPedia webpage: http://www.snpedia.com/index.php/Promethease) which provides an analysis of genetic raw data, including reports of medical conditions. To use the software seems to require quite a lot of knowledge in order to understand the results, but in principle Wiki Genetics/Genomics provides individuals with the possibility to analyze the raw data by themselves. Naturally, the question whether the analysis provides any answers on the possibility for future disease is still present and very much alive whether the analysis is done by a DTC company or by the individual through Wiki Genetics/Genomics. But in relation to various regulatory actions, Wiki Genetics/Genomics constitutes a fascinating development. Not at least when the cost for performing full genome sequencing slides down to such levels that they might be affordable by a larger group of individuals (see post Web-Based Genetic Testing and the 1000$ Genome). The emergence of Wiki Genetics/Genomics might move efforts to regulate DTC into the fundamental question on the right to access and interpret your own genetic information, a move that raises questions on future possibilities to control and regulate the DTC business at all.

References
Hogarth, S. (2008). “ The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues”, The Annual Review of Genomics and Human Genetics, 9: 161-182.

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