One of the main concerns about DTC genetic tests is that they may ‘misguide’ the public by making overstated claims(
. There are several studies that have investigated the content of DTC genetic testing companies, marketing websites and their test results. In 2006, the US Government Accountability Office published a report based on examining the results its investigators received from four nutrigenetic testing companies. The investigators concluded that even if the tests contained disclaimers that they were not intended to diagnose disease, the test results predicted the consumers were at risk of various diseases. To hedge their claims the companies stated the consumers ‘may be’ at risk. The investigators also criticised the companies for selling overpriced supplements in conjunction with the tests and for making scientifically unsound promises that the supplements could ‘repair DNA damage’(
In 2010, the Government Accountability Office investigated further four DTC genetic testing companies, including those offering whole genome scans. Its investigators noted that the different companies provided the same consumers (i.e. the same DNA sample was sent to several companies) very different risk profiles for the conditions they claimed to test, such as prostate cancer and hypertension. The Government Accountability Office report also expressed concern about statements in the companies' results that indicated that a consumer had a high risk of cancer. The investigators pointed out that while the companies advertised they would offer further expert advice they often could not offer such advice(
Several academic studies have examined the content of DTC genetic testing websites. Lachance et al
analysed twenty-nine such websites and observed that while nearly all (90%) stated the benefits of the tests only half (55%) presented limitations of the tests. Further, the authors noted that only slightly over a third (38%) of the sites supported their claims with scientific evidence and, as a consequence, did not often distinguish between tests in a situation, where the clinical validity of the tests varies significantly, i.e. the strength of the association between a gene variant and a disease may be more strongly or weakly supported by evidence. Other studies have presented similar findings. Lewis et al
found that only seven out of the twenty-five DTC genetic testing websites analysed complied with most of the transparency requirements outlined by the American Society for Human Genetics, and less than half (ten out of twenty-five) offered information on the predictive value of the genetic markers being tested. Similarly, Singleton et al
observed that while many (74%) of the twenty-three DTC genetic testing websites analysed contained disclaimers about the clinical usage of the tests (i.e. that they are not intended to diagnose disease), only a third (30%) discussed current limitations of the predictive ability of the genetic tests. An analysis of sixty-four organisations promoting (even if not always selling) nutrigenomic tests noted that only 13% presented information on the limitations of the tests and current science behind them(
Different companies fared differently in terms of informative content. Both Lachance et al
and Lewis et al
found that whole genome testing companies were more likely to discuss the limitations of the tests(
. Whole genome test sites, often containing illustrative graphs, also fared better in terms of readability of the sites, in a situation where most sites were difficult to navigate and understand, with only 7% using mostly common language(
. However, even the companies, which provided evidence of the predictive value of the test, did not often discuss how little such predictions mattered in the overall puzzle where multiple genetic factors (most of which are yet unknown) and environmental factors interact to produce lifestyle-related diseases(
Research has also identified a few common ways in which DTC genetic testing companies frame their services. Liu and Pearson observed that 90% of the forty-six companies marketing health-related genetic tests online used the emotional appeal of ‘empowerment’ and being in control(
; other studies have made similar observations(
. Based on a qualitative analysis of DTC genetic testing websites, Harvey noted that the discourse on empowerment resonates with the current public health ethos, which emphasises patient's personal responsibility to enhance their health and their ability and entitlement to make choices about their healthcare(
. In another qualitative study of DTC genetic testing websites, Nordgren and Juengst noted that the companies framed their customers as having the ‘right to know’ their genome, drawing on the ‘open source’ discourse, which emphasises individuals' right to openly access and share information(
. These results indicate that the companies mobilise the current anti-paternalistic sentiment, according to which individuals should have both the privilege and duty to take care of their own health.
The second most common emotional appeal, after empowerment, on DTC genetic testing websites identified by Liu and Pearson was ‘warmth,’ used in 60% of the sites(
. Einsiedel and Geransar observed that the twenty-two DTC genetic testing websites analysed also frequently employed ‘credibility markers’ to engender trust in the service, such as emphasising the professional credentials of the management team or laboratory accreditation. They also found that nineteen out of twenty-two company websites engendered credibility by making the site easy to navigate(
. Lachance, however, found the websites hard to navigate; only ten out of thirty-four companies providing a search-engine for the site(
Several studies have examined whether DTC genetic testing companies offer advice by a physician or genetic counsellor. This is somewhat complicated, as the companies frequently change between offering their services direct or via a physician or other professional, such as a nutritionist. In 2003, Gollust et al
. observed that of the fourteen companies marketing health-related genetic testing on the Internet seven offered them direct, and out of those seven, three indicated that they could provide their customers access to a physician's advice if requested. Companies that provided the tests results via a physician tended to offer more tests with significant implications, such as supplementary newborn screening(
. Similarly, Geransar and Einsiedel noted that of the twenty-four companies advertising genetic tests directly to consumers those that required physician mediation typically offered risk assessment and diagnostic tests, whereas companies selling the tests direct over the Internet offered ‘enhancement’ test, such as nutrigenetic tests(
. A recent analysis of the content of twenty-nine DTC genetic testing websites found that four (14%) provided an opportunity to talk to a healthcare professional before the test and eight (28%) offered such an opportunity afterwards(
Studies indicate that genetic tests with potentially significant implications, such as newborn screening tests or tests for predisposition to breast cancer, are typically offered via physician, whereas tests with less significant impact, such as nutrigenetic tests, are offered direct. However, similar tests, such as whole genome scans, can be offered both direct (23andMe) or via a physician (Navigenics). Further, when we analysed the websites of nine nutrigenetic testing companies we noted that some of them framed their services as medical (using clinical language and images, such as stethoscopes) and others as lifestyle products (presenting images of, for example, glistening fruits and vegetables or a spa-like setting)(
. Thus, while sometimes the way in which the tests are sold and marketed indicate the seriousness of the test, at other times such differences are simply rhetorical, reflecting the chosen marketing strategy of the company.
On the whole, the DTC genetic testing companies seem to oversell their services, with a substantial portion not appropriately disclosing the limits of the science behind the tests. There were differences between companies, whole genome testing services faring better, but hardly any companies fully discussed the limited predictive power of the tests, in a situation where new genetic risk factors are continuously being discovered and their interaction with multiple environmental factors mostly remains an unresolved puzzle. The companies mobilised a sense of empowerment, expertise and warmth to market their tests, typical strategies in marketing, and online marketing especially, to enhance customers' sense of agency as well as pleasure and positivity associated with the service(
. Some companies framed their tests more as medical and others more as lifestyle products, of those companies selling the tests directly online only a minority provided advice by a healthcare professional for those seeking more assistance.
While there was variation between companies, the current research indicates that the information provided by DTC genetic testing companies was often potentially misleading.