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Update

Forum: Science & Society

Illusions of scientific legitimacy: misrepresented


science in the direct-to-consumer genetic-testing
marketplace
Amy B. Vashlishan Murray1, Michael J. Carson2, Corey A. Morris3 and Jon Beckwith4
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 implicitly talent-test.html). Support for the offering is garnered by
misrepresent the utility of genetic information. Scien- referring to an article in a sports education journal [5].
tists who are well aware of the current limitations to the Although this article is not a research study that identifies
utility of such tests are best placed to publicly counter or validates the genetic association, the company is implic-
misrepresentations of the science. itly arguing that if a scientific publication can be referred to,
the information is such that one can confidently act on it.
Public opinion polls consistently rank science among the Ironically, the cited sports magazine article argues that
most respected professions [1]. It is therefore not surpris- genetic tests for athletic performance violate a child’s right
ing that the burgeoning direct-to-consumer (DTC) genetic- to an open future [5].
testing industry invokes scientific rigor when marketing In contrast to the marketing claims made by these DTC
its products. Whereas no scientific consensus of confidence companies, current scientific evidence does not support the
exists for many DTC tests [2,3], some DTC companies general utility of the ACTN3 genetic test. The original
create an illusion of scientific legitimacy to gain consumer study suggests only that ACTN3 gene differences could
confidence. Their marketing of scientific information dis- be useful predictors of athletic performance at the ‘elite’
torts the process by which scientific conclusions become level [4]. Although the authors did not argue against
believable and consequently either openly or implicitly extrapolating the utility of this test to the general populace
misrepresents the utility of genetic tests. in this original publication, one author did so later (http://
scienceblogs.com/geneticfuture/2008/11/) and included the
Marketing science information that variation in this gene accounts for just 2–
Among the estimated 480 different traits covered in the 3% of the variation in muscle function in the general
collective offerings of current DTC genetic-testing compa- population. Approximately 30% of the population has
nies there are tests for the creative, musical, linguistic, and two copies of the ACTN3 version that is correlated with
shyness ‘genes’, as well as for intelligence, athletic aptitude, sprinting ability but the majority of these individuals are
and bad behavior. One company promotes a testing package not professional athletes. Further, ‘athletic performance’ is
for ‘inborn talent’ as the ‘result of the Human Genome an ambiguous catch-all category and does not allow for the
Project’ (http://www.mygeneprofile.com/talent-test.html). different skills that are required for different sports, many
Other companies use ‘proprietary technology’ to offer per- not relying heavily on fast-twitch muscles.
sonalized nutritional products based on genetic testing
(http://www.ilgenetics.com). Often without citing a single Misrepresentation goes mainstream
DNA variant or gene, companies promote their products One might think that misusing the scientific literature or
under the protective cloak of legitimate science. ignoring the scientific complexities of genetic information
However, even relying upon a well-studied genetic vari- represents only a fringe cohort of DTC genetic-testing
ant does not protect against misuse of scientific information. companies. However, a recent study of 29 health-related
For example, 6 of the 32 existing DTC companies offer a test DTC companies found that only eleven of their websites
for variants in the gene ACTN3 (http://www.dnapolicy.org/ provide any scientific evidence to support the markers
resources/DTCcompanieslist.pdf). ACTN3 encodes a regu- being tested and, of those, only six reference the scientific
lator of fast-twitch muscle fibers and a less-functional literature [6]. As these numbers suggest, the DTC genetic-
variant of this gene is found infrequently among elite power testing industry exhibits a continuum of practices. Some
athletes and sprinters [4]. Detecting this variant is offered companies rely on largely pseudoscientific claims; others
as a test for either ‘athletic ability’ or ‘muscle performance’. severely overstate utility even when focusing on well-
One company markets a test based on this association as a established genetic associations. At the other end of the
parenting tool for helping to assure that children don’t ‘grow spectrum, some companies are considerably more careful
against’ their inborn talents http://www.mygeneprofile.com/ in choosing the health conditions to include in genetic-
analysis packages and, in many cases, provide significant
Corresponding author: Beckwith, J. (jbeckwith@hms.harvard.edu). information. However, even such companies can overstate
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Update Trends in Genetics Vol.26 No.11

test utility by promoting the idea that this information can genetics have repeatedly criticized as providing insuffi-
play a major role in future health decisions while present- cient evidence for the proposed genetic link [2,3,7,15].
ing studies that generally describe a very small effect on Why are these tests being put on the market at all? Their
overall risk of disease [7]. very offering with the accompanying ‘information’ implies
Although the DTC genetic-testing industry exhibits a that the test results are meaningful, and thus misrepre-
continuum of practices, some companies offer tests over the sents how the scientific community comes to accept con-
entire range of practices described above, testing for highly clusions as valid.
penetrant diseases, weak associations that are well-sup-
ported, but also for highly questionable associations. One Publicly countering misrepresentation: a role for the
company, for example, offers 166 tests in one of its testing scientist
packages where approximately 60% of the tests (99) are Congressional hearings in the USA to consider industry
categorized as ‘preliminary research’ because the genetic- practices, and plans by the National Institutes of Health
association data have not yet been replicated (www.23and- for a genetic-test registry, could both provide opportu-
me.com/health/all/). These tests are given 1, 2, or 3 stars nities to counter the misrepresentations we have dis-
based on the size of the study that supports the genetic cussed. However, a role already exists for scientists, at
association for which they test. Information for each of the individual level, to publicly speak out against misre-
these tests cites references for the original finding of the presentations of the science behind the tests. Importantly,
genetic association, including the journal where it was scientists who publish first findings of an association
published and the study size. It also provides the number ought to clearly state in their primary publication, and
of attempted replications and the number of contrary in any other communications such as press releases and
studies that have been published. media interviews, why their findings are not ready for
Although transparent, examination of the scientific evi- commercial applications. Scientific journals that highlight
dence provided for many of the genetic associations in this the publications through their editorials or news articles
category raises the question of whether these tests should should also be explicit about what limitations there are to
even be included in a genetic-testing package. Two of the the science. Scientists who are advisers to or on the boards
five genetic tests with 1-star status (those for ‘avoidance of of DTC companies should make sure that they are aware of
error’ and ‘obsessive compulsive disorder’) are based on the nature of the tests being marketed and question any
single studies with fewer than 100 participants (https:// tests whose significance has not been solidly established.
www.23andme.com/you/health/). In both cases the var- Such pre-emptive and responsive communication could help
iants map to the D2 dopamine receptor, a gene that has consumers to better understand how science is evaluated
repeatedly been associated with human behavioral traits and view their genetic-testing options with a critical eye.
and attracted newspaper headlines, only to have the asso- The responsibility to actively prevent this distortion of
ciations refuted in later studies [8]. Eight of the 37 (22%) genetic research goes beyond those geneticists who are
available 2-star-rated genetic associations (originating involved with genetic-test development. Researchers in
from a single study with less than 750 participants) have genetics who are dismayed at how their field is being
a ‘contrary study’ indicated. Two different 3-star tests, one translated to the public can work through their profession-
for Lou Gehrig’s Disease (ALS) and another for obesity, al societies or other groups to promote position papers or
utilize variants that have been positively associated with other means of communication that could improve public
disease in one or two studies, respectively. However, both understanding and influence the behavior of the DTC
these variants have failed replication in four additional companies. We believe that active engagement of the
studies (https://www.23andme.com/you/health/). Al- public by scientists in a way that both informs and
though, the company boasts of its ‘systematic vetting encourages debate over the social consequences of new
process’ used to determine which research findings to scientific findings will increase trust and help lead to
include in its genetic-testing package, a number of highly greater appreciation of the scientific approach.
questionable tests continue to be offered to consumers. Acknowledgements
In an era when it is becoming popular to seek detailed The authors are members of the Genetics and Society Working Group
personal genetic information, scientific concern is mount- (GSWG), a multidisciplinary group of scientists, students, and
ing over the validity of DTC genetic tests that claim to professionals who work to promote the responsible communication and
provide this information [9–11]. In particular, because of application of advances in genetics to all members of society. We are
grateful to members of the GSWG for the bi-weekly explorations of the
the many false starts in gene discovery over the last 20 impact and significance of developments in the field of genetics that have
years, both the media and scientists themselves are learn- inspired and shaped this manuscript.
ing to be more cautious in emphasizing the significance of
newer findings [12–14]. The DTC genetic-testing market References
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