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Illusions of scientific legitimacy: misrepresented science in the direct-to-consumer genetic-testing marketplace

Illusions of scientific legitimacy: misrepresented science in the direct-to-consumer genetic-testing marketplace

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Amy B. Vashlishan Murray, Michael J. Carson, Corey A. Morris (Corey Morris-Singer) and Jon Beckwith

Marketers of genetic tests often openly or implicitly misrepresent the utility of genetic information. Scientists who are well aware of the current limitations to the utility of such tests are best placed to publicly counter misrepresentations of the science.
Amy B. Vashlishan Murray, Michael J. Carson, Corey A. Morris (Corey Morris-Singer) and Jon Beckwith

Marketers of genetic tests often openly or implicitly misrepresent the utility of genetic information. Scientists who are well aware of the current limitations to the utility of such tests are best placed to publicly counter misrepresentations of the science.

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Categories:Types, Research, Science
Published by: Corey Morris-Singer, Ph.D. on Mar 08, 2011
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02/06/2012

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Forum: Science & Society
Illusions of scientific legitimacy: misrepresentedscience in the direct-to-consumer genetic-testingmarketplace
Amy B. Vashlishan Murray
1
, Michael J. Carson
2
, Corey A. Morris
3
and Jon Beckwith
4
1
Department of Communication Sciences and Disorders, Emerson College, 120 Boylston Street, Boston, MA 02116, USA
2
Department of Biological Sciences, Bridgewater State College, 131 Summer Street, Bridgewater, MA 02325, USA
3
Department of Cell Biology, Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115, USA
4
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[1]. 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.
Marketing science
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
ACTN3
ACTN3
encodes a regu-lator of fast-twitch muscle fibers and a less-functionalvariantofthisgeneisfoundinfrequentlyamongelitepowerathletes and sprinters[4]. 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‘growagainsttheirinborntalentshttp://www.mygeneprofile.com/ talent-test.html). Support for the offering is garnered by referring to an article in a sports education journal[5].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[5].In contrast to the marketing claims made by these DTCcompanies,currentscientificevidencedoesnotsupportthegeneral utility of the
ACTN3
genetic test. The originalstudy suggests only that
ACTN3
gene differences couldbe useful predictors of athletic performance at the ‘elite’level[4]. 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
ACTN3
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[6]. 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
Update
Corresponding author:
Beckwith, J. (jbeckwith@hms.harvard.edu).
459
 
test utility by promoting the ideathat this information canplay a major role in future health decisions while present-ing studies that generally describe a very small effect onoverall risk of disease[7].Although the DTC genetic-testing industry exhibits acontinuumofpractices,somecompaniesoffertestsovertheentirerangeofpracticesdescribedabove,testingforhighly penetrant diseases, weak associations that are well-sup-ported, but also for highly questionable associations. Onecompany, for example, offers 166 tests in one of its testing packages where approximately 60% of the tests (99) arecategorized as ‘preliminary research’ because the genetic-associationdata havenotyetbeenreplicated(www.23and-me.com/health/all/ ). These tests are given 1, 2, or 3 starsbased on the size of the study that supports the geneticassociation for which they test. Information for each of these tests cites references for the original finding of thegenetic association, including the journal where it waspublished and the study size. It also provides the numberof attempted replications and the number of contrary studies that have been published.Although transparent, examination of the scientific evi-dence provided for many of the genetic associations in thiscategory raises the question of whether these tests shouldeven be included in a genetic-testing package. Two of thefive genetic tests with 1-star status (those for ‘avoidance of error’ and ‘obsessive compulsive disorder’) are based onsingle studies with fewer than 100 participants (https:// www.23andme.com/you/health/). In both cases the var-iants map to the D2 dopamine receptor, a gene that hasrepeatedly been associated with human behavioral traitsand attracted newspaper headlines, only to have the asso-ciations refuted in later studies[8]. Eight of the 37 (22%)available 2-star-rated genetic associations (originating from a single study with less than 750 participants) havea ‘contrary study’ indicated. Two different 3-star tests, onefor Lou Gehrig’s Disease (ALS) and another for obesity,utilize variants that have been positively associated withdisease in one or two studies, respectively. However, boththese variants have failed replication in four additionalstudies (https://www.23andme.com/you/health/). Al-though, the company boasts of its ‘systematic vettinprocess’ used to determine which research findings toinclude in its genetic-testing package, a number of highly questionable tests continue to be offered to consumers.In an era when it is becoming popular to seek detailedpersonal genetic information, scientific concern is mount-ing over the validity of DTC genetic tests that claim toprovide this information[9
11]. In particular, because of the many false starts in gene discovery over the last 20years, both the media and scientists themselves are learn-ing to be more cautious in emphasizing the significance of newer findings[12
14]. The DTC genetic-testing marketdoes not seem to be exhibiting the same caution. Given apopular culture where the awarding of stars is widely interpreted as an indication of value and quality, thestar-rating system is deceptive. A company that presentsstar-rated tests to consumers is implicitly saying the testsareallworthofferingbutsomearebetterthanothers.Evenso, in most cases the tests that are given star ratings arebased on criteria that scientists in the field of humangenetics have repeatedly criticized as providing insuffi-cient evidence for the proposed genetic lin[2,3,7,15].Why are these tests being put on the market at all? Theirvery offering with the accompanying ‘information’ impliesthat the test results are meaningful, and thus misrepre-sents how the scientific community comes to accept con-clusions as valid.
Publicly countering misrepresentation: a role for thescientist
Congressional hearings in the USA to consider industry practices, and plans by the National Institutes of Healthfor a genetic-test registry, could both provide opportu-nities to counter the misrepresentations we have dis-cussed. However, a role already exists for scientists, atthe individual level, to publicly speak out against misre-presentationsofthesciencebehindthetests.Importantly,scientists who publish first findings of an associationought to clearly state in their primary publication, andin any other communications such as press releases andmedia interviews, why their findings are not ready forcommercialapplications.Scientificjournalsthathighlightthe publications through their editorials or news articlesshould also be explicit about what limitations there are tothe science. Scientists who are advisers to or on the boardsof DTC companies should make sure that theyare aware of the nature of the tests being marketed and question any tests whose significance has not been solidly established.Suchpre-emptiveandresponsivecommunicationcouldhelpconsumers to better understand how science is evaluatedand view their genetic-testing options with a critical eye.The responsibility to actively prevent this distortion of genetic research goes beyond those geneticists who areinvolved with genetic-test development. Researchers ingenetics who are dismayed at how their field is being translated to the public can work through their profession-al societies or other groups to promote position papers orother means of communication that could improve publicunderstanding and influence the behavior of the DTCcompanies. We believe that active engagement of thepublic by scientists in a way that both informs andencourages debate over the social consequences of newscientific findings will increase trust and help lead togreater appreciation of the scientific approach.
Acknowledgements
The authors are members of the Genetics and Society Working Group(GSWG), a multidisciplinary group of scientists, students, andprofessionals who work to promote the responsible communication andapplication of advances in genetics to all members of society. We aregrateful to members of the GSWG for the bi-weekly explorations of theimpact and significance of developments in the field of genetics that haveinspired and shaped this manuscript.
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Update
Trends in Genetics 
Vol.26 No.11
460

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