Forum: Science & Society
Illusions of scientiﬁc legitimacy: misrepresentedscience in the direct-to-consumer genetic-testingmarketplace
Amy B. Vashlishan Murray
, Michael J. Carson
, Corey A. Morris
and Jon Beckwith
Department of Communication Sciences and Disorders, Emerson College, 120 Boylston Street, Boston, MA 02116, USA
Department of Biological Sciences, Bridgewater State College, 131 Summer Street, Bridgewater, MA 02325, USA
Department of Cell Biology, Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115, USA
Department of Microbiology and Molecular Genetics, Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115, USA
Marketers of genetic tests often openly or implicitlymisrepresent the utility of genetic information. Scien-tistswhoarewellawareofthecurrentlimitationstotheutility of such tests are best placed to publicly countermisrepresentations of the science.
Public opinion polls consistently rank science among themost respected professions. It is therefore not surpris-ing that the burgeoning direct-to-consumer (DTC) genetic-testing industry invokes scientiﬁc rigor when marketing its products. Whereas no scientiﬁc consensus of conﬁdenceexists for many DTC tests[2,3], some DTC companiescreate an illusion of scientiﬁc legitimacy to gain consumerconﬁdence. Their marketing of scientiﬁc information dis-torts the process by which scientiﬁc conclusions becomebelievable and consequently either openly or implicitly misrepresents the utility of genetic tests.
Among the estimated 480 different traits covered in thecollective offerings of current DTC genetic-testing compa-nies there are tests for the creative, musical, linguistic, andshyness‘genes’,aswellasforintelligence,athleticaptitude,andbadbehavior.Onecompanypromotesatestingpackagefor ‘inborn talent’ as the ‘result of the Human GenomeProject’ (http://www.mygeneproﬁle.com/talent-test.html).Other companies use ‘proprietary technology’ to offer per-sonalized nutritional products based on genetic testing (http://www.ilgenetics.com). Often without citing a singleDNA variant or gene, companies promote their productsunder the protective cloak of legitimate science.However, even relying upon a well-studied genetic vari-antdoesnotprotectagainstmisuseofscientiﬁcinformation.Forexample,6ofthe32existingDTCcompaniesofferatestfor variants in the gene
encodes a regu-lator of fast-twitch muscle ﬁbers and a less-functionalvariantofthisgeneisfoundinfrequentlyamongelitepowerathletes and sprinters. Detecting this variant is offeredas a test for either ‘athletic ability’ or ‘muscle performance’.One company markets a test based on this association as aparentingtoolforhelpingtoassurethatchildrendon’t‘growagainst’theirinborntalentshttp://www.mygeneproﬁle.com/ talent-test.html). Support for the offering is garnered by referring to an article in a sports education journal.Although this article is not a research study that identiﬁesor validates the genetic association, the company is implic-itlyarguingthatifascientiﬁcpublicationcanbereferredto,the information is such that one can conﬁdently act on it.Ironically, the cited sports magazine article argues thatgenetic tests for athletic performance violate a child’s rightto an open future.In contrast to the marketing claims made by these DTCcompanies,currentscientiﬁcevidencedoesnotsupportthegeneral utility of the
genetic test. The originalstudy suggests only that
gene differences couldbe useful predictors of athletic performance at the ‘elite’level. Although the authors did not argue againstextrapolatingtheutilityofthistesttothegeneralpopulacein this original publication, one author did so later (http:// scienceblogs.com/geneticfuture/2008/11/ ) and included theinformation that variation in this gene accounts for just 2
3% of the variation in muscle function in the generalpopulation. Approximately 30% of the population hastwo copies of the
version that is correlated withsprinting ability but the majority of these individuals arenotprofessionalathletes.Further,‘athleticperformance’isan ambiguous catch-all category and does not allow for thedifferent skills that are required for different sports, many not relying heavily on fast-twitch muscles.
Misrepresentation goes mainstream
One might think that misusing the scientiﬁc literature orignoring the scientiﬁc complexities of genetic informationrepresents only a fringe cohort of DTC genetic-testing companies. However, a recent study of 29 health-relatedDTC companies found that only eleven of their websitesprovide any scientiﬁc evidence to support the markersbeing tested and, of those, only six reference the scientiﬁcliterature. As these numbers suggest, the DTC genetic-testing industry exhibits a continuum of practices. Somecompanies rely on largely pseudoscientiﬁc claims; othersseverely overstate utility even when focusing on well-established genetic associations. At the other end of thespectrum, some companies are considerably more carefulin choosing the health conditions to include in genetic-analysis packages and, in many cases, provide signiﬁcantinformation. However, even such companies can overstate