Given the rapid pace of progress in the field of consumer genomics, it may seem like ancient history when Time magazine named “The Retail DNA Test” as its 2008 Invention of the Year, and Nature cited “Personal Genomics Goes Mainstream” as a top news story [1, 2]. The past five years have witnessed widespread scientific and social enthusiasm about—and controversy over—new developments in whole genome sequencing technologies and their possible commercial applications to human health. Many proponents of consumer genomics—including direct-to-consumer genetic testing (DTC-GT) marketed publicly to individuals and made available without need for an intermediary medical professional—view direct access to one’s genome as an individual right, noting many potential benefits of learning more about one’s predilection to disease and likelihood of response to particular medications. Meanwhile, professional organizations representing health professionals and genetics researchers have continued to express concerns regarding DTC-GT and its potential harms [3, 4].

In recent years, many notable changes have occurred in the field. Decreasing genotyping costs have resulted in DTC-GT services becoming more accessible to the average consumer; for example, 23andMe, a leading company in the field, now offers its services for $99 (as compared to an original price of $999 in 2007) [5]. Another recent development is that many companies have either left the marketplace or moved from a pure DTC model toward one involving partnership with physicians and health care systems [6]. This shift can be attributed in part to intensified regulatory pressures in 2010, when the US Food and Drug Administration (FDA) sent warning letters to several DTC-GT companies and the Government Accountability Office (GAO) issued a highly critical report of the industry, declaring test results to be “misleading and of little or no practical use” and concluding that two-thirds of companies investigated “engaged in some form of fraudulent, deceptive, or otherwise questionable marketing practices” [7].

Despite the considerable amount of attention accorded to consumer genomics, there have been relatively few empirical studies in this area. Numerous policies have been developed within the US and abroad to regulate the provision of DTC-GT services [8], and recommendations have been provided to both consumers and health care professionals [9, 10]. However, data are needed across multiple areas to guide future practice and determine whether existing regulations strike an appropriate balance between consumer and commercial sovereignty on one hand and safeguards to ensure the public’s health on the other. Topics of particular interest include (1) content of DTC-GT company education and marketing materials, (2) consumer responses (e.g., psychological, behavioral) to learning their personal test results, and (3) perspectives and experiences of health care professionals affected by the provision of DTC-GT services. We review and comment on the recent literature (2011–2013) in these domains to help evaluate the potential benefits, harms, and limitations of DTC-GT and related personal genomics services, and to identify areas of need for future research.


PubMed searches were conducted between February–April 2013 to retrieve peer reviewed articles focused on DTC-GT. Articles were restricted to those published in English since January 2011. We excluded papers that were concerned with DTC marketing strategies or only included brief mention of DTC-GT. Search terms included “direct-to-consumer” AND “genetic” or “genomic,” and “personal genomics.” A total of 94 articles were initially identified. Of these, we excluded those that were not primary sources of data (e.g., commentaries, review articles) and/or that did not focus on health-related issues (e.g., articles on DTC-GT ancestry testing), yielding a final sample of 39 articles. A classification scheme was then developed to organize the presentation of findings from these articles across broad topic areas including: (1) content analyses of DTC web sites, (2) consumer perspectives and experiences, and (3) perspectives of health care providers. Given space constraints, we do not report on all identified articles but these are included in Appendix Table 1, which lists the 39 studies and provides brief descriptions.


Content Analyses of DTC-GT Website Information

Three studies examined content on DTC-GT websites to understand how companies represent their health-related services and the potential implications for consumers. Singleton et al. [11] conducted a content analysis of 23 DTC websites and found that statements about the benefits of testing outnumbered risk and limitation statements by a 6:1 ratio. The most frequently described benefits were: (1) disease prevention, (2) consumer education, (3) personalized medical recommendations, and (4) the ability to make health decisions. Although the vast majority (78 %) of websites noted at least one limitation of testing (e.g., most tests are not suitable for clinical use), only 35 % mentioned any test risks (e.g., worry/anxiety). The authors concluded that website descriptions of DTC services might give potential consumers an inaccurate sense of the potential pros versus cons of testing, undermining their ability to make a fully informed decision. In a related qualitative analysis, Arribas–Ayllon, Sarangi, and Clarke explored rhetorical and discourse approaches used on three DTC-GT websites [12]. The authors identified three distinct approaches to managing access to personal genetic information: (1) a ‘paternalistic’ approach that utilizes the medical model by emphasizing the medical professional as the mediator between consumer and genetic information; (2) a ‘translational’ model (i.e., from bench scientist to consumer) that emphasizes scientific quality and accuracy, with the laboratory scientist as mediator between consumer and genetic information; and (3) a ‘democratic’ register where access to personal genetic profiles is largely unmediated, with service delivery enhanced by sharing of information among user communities and consumer-led engagement.

Harris, Kelly, and Wyatt focused on the role of genetic counselors as depicted on DTC websites, blogs and related online materials [13]. They identified four representations of genetic counseling—integrated counseling, discretionary counseling, independent counseling, and product advice—each of which places counselors in the role of “personal genetics experts” in which they may be expected to serve as genetic educators, mediators, lifestyle/health advisors, risk interpreters, or even entrepreneurs. The findings demonstrate that the integration of genetic counseling into DTC-GT services is contributing to a diversification of roles and expectations within this profession.

Consumer Perspectives and Experiences

Awareness of DTC Testing

Several recent studies have explored consumer awareness of DTC-GT services in the US. Using a nationally representative set of cross-sectional surveys, Finney Rutten et al. [14] examined population-level changes in DTC-GT awareness and found a significant increase from 2008 to 2011 (29 to 37 %). Awareness was significantly higher among the following groups: individuals aged 50–74, college graduates, persons with a regular health care source, those with a prior diagnosis of cancer, Internet users, and urban residents. In a related study, Hall et al. [15] compared awareness of DTC-GT between individuals with cancer and their first-degree relatives and an unaffected control group. Among the 1,267 survey respondents, 49 % were aware of DTC-GT, with the high-risk group demonstrating a significantly greater level of awareness than controls. Data from four states using the 2009 Behavioral Risk Factor Surveillance System suggested regional differences in DTC-GT awareness (e.g. awareness was nearly twice as great among Oregon residents versus Michigan residents), with higher awareness associated with higher education, higher income, and increasing age (excluding those 75 years and above) [16].

Two studies examined awareness of DTC-GT among different racial/ethnic groups. Ortiz et al. [17] used data from the 2009 Health Information National Trends Survey (HINTS) in Puerto Rico to determine prevalence of DTC-GT awareness among Puerto Rican adults, finding a majority (56 %) of respondents to be aware of these services. Those who were married or current smokers were less likely to be aware, while those who had sought cancer information were more likely to be aware. Langford et al. [18] used HINTS data from 2007 to investigate the association between race/ethnicity and DTC-GT awareness. Black (23.8 %) and Hispanic (29.7 %) respondents had significantly lower rates of awareness as compared to white respondents (35.1 %); however, the association between black race and awareness weakened when numeracy was added to the model, suggesting this variable as a potential mediator.

Test Motivations and Interest

Several studies have examined motivations, perceptions and intentions of both actual and potential users of DTC-GT and related services. Gollust et al. [19] surveyed early adopters of personal genomics through the Coriell Personalized Medicine Collaborative (CPMC), a research-based study of personalized medicine. They found that members’ main motivations for pursuing personal genomics services were curiosity about their genes (81 %), a desire to find out about risk for disease (78 %), and to improve their health (78 %). Fewer respondents noted the importance of learning about health risks of their children and grandchildren (47 %) and an interest in specific medical conditions (38 %). In an exploratory study of users’ personal stories on Internet blogs and DTC-GT web sites, Su, Howard and Borry identified five sets of motivations and expectations related to (1) health, (2) curiosity and fascination, (3) genealogy, (4) contributing to research, and (5) recreation [20]. The authors concluded that improving health was the main motivation for DTC-GT consumers.

Two other studies examined how different ways of presenting individuals with information about the potential risks and benefits of DTC-GT may affect motivations or intentions to get tested. Gray et al. [21] conducted a randomized, controlled trial to explore the impact of genetic risk information presented on a mock BRCA DTC-GT testing web site. A sample of 767 women was either presented with information on the risks of DTC testing (intervention group) or not (control group). The intervention group reported fewer positive beliefs about DTC-GT, lower intentions to get online BRCA testing, and a higher level of preference for clinic-based testing. In another study examining the effect of information content on intentions and attitudes toward testing, Sweeny and Legg provided participants with three types of information about DTC-GT: positive only, negative only, or both [22]. As compared to the negative and full information conditions, participants in the positive only group perceived the greatest benefits and fewest barriers to testing, showed more anticipated regret over not testing, and reported greater intentions to pursue testing. Thus, the authors concluded that exclusively positive information may promote interest in testing, whereas the intentions and interest of those receiving exclusively negative information may not differ from those receiving balanced or full information.

Comprehension and Interpretation of Test Results

Studies of DTC-GT consumers’ understanding suggest that the vast majority “get the gist” of their test results. For example, in a prospective assessment of participants in the Multiplex Initiative who had undergone genetic susceptibility testing for eight health conditions, Kaphingst et al. [23] found that 80 % of participants correctly recalled their results and that they were unlikely to perceive their results as deterministic (i.e., they recognized that disease causes were multifactorial). Similar results were found in a report from Gordon et al. [24] on 60 participants in the CPMC. In a related study, Kaufman et al. [25•] surveyed 1,048 consumers of three personal genomics companies (Navigenics, 23andMe, and deCODEme). Respondents were posed hypothetical scenarios of susceptibility testing for type 2 diabetes and colon cancer, with results presented in the same online format as their own personal results would have been (e.g., Navigenics customers were shown results using a display template from a Navigenics company test report). Results showed that 90–94 % of respondents showed risk accuracy when interpreting test results. Likelihood of a correct response was associated with younger age and higher among those who reported that test reports were easy to understand.

However, some evidence exists regarding the potential for public misperceptions about personalized genomic test results. In their study of 369 enrollees of the CPMC, Gollust et al. [19] noted that most participants did not express deterministic perspectives about genetics, but found that a significant subset (32 %) believed there were no risks involved in CPMC testing and that they would receive risk information for all genetic diseases. Leighton, Valverde, and Bernhardt, in a comparison of lay public versus genetic counselor perceptions and understandings of DTC test results using an online survey on Facebook, also found evidence for relatively common public misinterpretation of test results [26]. Although the majority of the public respondents interpreted test results correctly across four mock scenarios (e.g., genetic susceptibility testing for colon cancer and heart disease), significant differences were observed between the general public and genetic counselors in three scenarios. For example, public respondents showed lower levels of risk accuracy in interpreting results and were more likely to overrate the benefits of testing in informing future disease management and health care. The authors also found that many respondents demonstrated an inability to accurately assess whether they would benefit from assistance in interpreting their results. Finally, James et al. [27] examined risk perceptions among a sample of preventive medicine clinic patients, half of whom were randomized to receive DTC-GT risk information for 12 conditions on top of their usual care. The authors observed that while patients who received DTC genetic risk information generally rated their risk of common diseases similarly to patients who did not receive this information, they perceived their risk as slightly higher for lesser known, rarer conditions (e.g., abdominal aneurysm, Graves’ disease). Findings suggest that DTC-GT may have a greater effect on risk perceptions or individual interpretation of results when less is known about the condition at baseline.

Psychological Impact of Results

Several studies have examined actual or potential psychological effects of receiving DTC-GT results. Studies posing hypothetical scenarios to participants suggest the potential for increased psychological distress and anxiety in response to positive test results. Bansback et al. [28] used a web-based survey to elicit participant interpretations of hypothetical genetic risk profiles and test results, and found that across all scenarios 40 % of participants anticipated feeling more worried and anxious after seeing their genetic profile, with higher levels of disease risk associated with greater anticipated worry and anxiety. In another study, participants who received a mock report about their genetic susceptibility to alcoholism exhibited increased negative affect, decreased positive affect, and reported less perceived control over drinking problems, suggesting that there may be immediate psychological effects to receiving personalized genetic information [29].

However, studies that have enrolled recipients of actual personalized test results have generally shown little significant impact on psychological well-being. Bloss, Schork, and Topol collected longitudinal data (with follow-up 6–8 months on average) on self-reported symptoms of anxiety in a sample of 2,037 participants who received genetic risk information via the Navigenics Health Compass DTC-GT service [30••]. The study found no significant differences in anxiety symptoms between baseline and follow-up, and that the vast majority (90.3 %) of participants did not evidence significant test-related distress (although distress was positively correlated with average estimated lifetime risk for all conditions). The aforementioned James et al. [27] study found no significant between-group differences in worry about the 12 conditions tested for in that project, suggesting that receiving DTC-GT information did not elevate disease-specific concern among patients attending a preventive medicine clinic. Finally, Egglestone, Morris and O’Brien conducted an online survey with a convenience sample of 189 individuals who had reportedly received health-related DTC-GT results. They found that a minority of respondents (24.6 %) reported a change in health-related anxiety in response to their test results, and that the vast majority of these respondents (85.3 %) noted a reduction in anxiety [31].

Not all studies of psychological response to DTC-GT results have focused on general reactions to risk information for multiple diseases at once. Two have addressed response to BRCA 1/2 testing, one of the few DTC-GT tests for high-penetrance mutations. Reporting on a recent genetic counseling case of a client who unexpectedly discovered a BRCA mutation after DTC-GT, Dohany et al. [32] noted that a lack of pre-test counseling left their client unprepared for her positive test result. The client reported significant psychological distress (including insomnia) upon learning her result and confusion about how best to respond. After a comprehensive in-person genetic counseling consultation, the client reported a significant reduction in anxiety and initiated risk-reducing surgery and increased surveillance. The authors concluded that pre- and post-test genetic counseling are an important means of countering patient distress and encouraging patients to be proactive in their use of test results. A contrasting report in this area comes from Francke et al. [33•], who reported on results from 136 high risk individuals who had received BRCA mutation-positive reports through 23andMe’s Personal Genome Service. Among 32 participants who agreed to interviews about their experience of learning test results, there was no indication of extreme anxiety, and only four instances of moderate anxiety of short duration. Nearly all carriers (31/32) reported that they appreciated learning their BRCA mutation status, even if the information was unwanted and unexpected.

Health Behavior Changes

Several studies have examined whether the provision of DTC genetic risk information results in notable health behavior or related lifestyle changes. Kaufman et al. [25•] conducted an online survey of 1,048 customers of 23andMe, DeCODEme and Navigenics to see how the interpretation of their results affected customer health behavior and health care use. Sixteen percent of respondents changed a medication or supplement regimen, one-third reported being more careful about their diet, and 14 % reported increased amounts of exercise (there was no comparison group in this study). Participants who consulted a health care provider were more likely to engage in health behavior changes. On a similar note, the aforementioned survey from Egglestone et al. [31] found that 27 % of DTC-GT consumers reported positive or neutral health behavior changes in response to their personal tests, such as a “healthier diet” or “more exercise”. Conversely, Bloss et al. [30••] observed no significant health behavior changes in response to DTC-GT information. They found that among participants who received genetic risk information from the Navigenics Health Compass service, there were no significant differences between baseline and follow-up in dietary fat intake and exercise behavior. In a follow-up study with this sample (data collected approximately one year after DTC-GT results were provided), Bloss et al. [34] found that those who shared their test results with a physician reported engaging in a greater number of screening tests (e.g., for diabetes, prostate cancer) than those who did not share their results with a physician.

Health Care Utilization

Several studies have examined the potential effects of DTC-GT information on the health care system. One area of interest has been the extent to which DTC-GT consumers share their personal test results with their physicians or other health care providers. In the aforementioned Kaufman et al. [25•] study, about a quarter of participants (28 %) overall reported discussing their results with health care professionals; 20 % had discussed with their primary care provider (PCP), while only 1 % had discussed with a genetic counselor. The previously discussed Bloss et al. [30••] study had a similar finding, as a quarter of participants (26.5 %) reported sharing their results with their physician, while only 10.4 % discussed their results with a freely available Navigenics genetic counselor. This study also found no significant increases from baseline in the use of screening tests such as mammography, colonoscopy, and glucose or cholesterol tests.

Perhaps the most dramatic example of the potential health care impact of DTC-GT results comes from the aforementioned Francke et al. [33•] study of individuals who received BRCA mutation-positive DTC-GT reports. Of 11 mutation-positive women receiving their BRCA status for the first time, four had already engaged in risk-reducing procedures (one prophylactic mastectomy, three oophorectomies) after confirmatory testing, with seven others planning to pursue such surgeries in the future. The majority of mutation-positive participants reported sharing their results with family members, leading to 30 additional (secondary) BRCA tests, 13 of which reportedly resulted in carrier identification. Within these secondary cases, several women had reportedly also undergone risk reduction surgeries, and one case of early, non-invasive breast cancer had been detected.

Relatively few studies have conducted formal analyses of health services utilization in response to personalized genetic test results. Reid et al. [35•] analyzed data from 1,599 continuously insured adults aged 25–40 who were offered genetic susceptibility test information for eight conditions (e.g., colon and lung cancers, heart disease, diabetes) as part of the Multiplex Initiative. Health care utilization was measured in 12-month periods, both pre- and post-testing, across three groups: (1) participants who completed a baseline survey only; (2) those who also visited the study website; and (3) those who actually opted for and received their personal test results. Utilization was measured in terms of physician visits and medical screening procedures (e.g., colonoscopy, glucose and cholesterol tests, chest X-ray) associated with four of the conditions of interest. The researchers found that receipt of DTC-GT results was not associated with an overall increase in health care utilization, although the study group that elected testing showed higher use of physician visits prior to testing than the two comparison groups. These findings suggest that DTC-GT results were not leading to a cascade of follow-up tests and procedures.

Perspectives of Health Care Providers

Given that consumers may first turn to PCPs for help with interpreting and acting upon their test results, PCPs have been the focus of recent surveys examining attitudes, beliefs and experiences regarding DTC-GT. A survey of 382 PCPs in North Carolina found that 85 % reported feeling unprepared to answer patient questions regarding DTC-GT testing (with female providers more likely than male to report feeling unprepared), and that a majority (61 %) were unaware of such testing in the first place [36, 37]. However, the vast majority (74 %) reported wanting to learn more about DTC-GT. Of those who were aware of such testing, 43 % reported believing that it was clinically useful (with family practitioners more likely than internists to report that testing was useful), and 19 % reported having already had patients come to them with their own DTC-GT results.

Two studies assessed the perspectives and experiences of genetic health professionals. Hock et al. [38] surveyed 312 members of the National Society of Genetic Counselors and found that the vast majority of respondents (83 %) had received two or fewer inquiries about DTC-GT, with 14 % having received requests to interpret test results. Most respondents believed that they had a responsibility to be knowledgeable about DTC-GT (55 %) and to interpret test results (48 %), and 56 % thought that DTC-GT was acceptable if followed up with genetic counseling. Notably, over 70 % of respondents indicated that they would consider referring a patient to a DTC-GT company under select conditions, and 90 % would do so if there were geographic constraints to obtaining genetic testing. In a study conducted in Australia and New Zealand, 130 genetic counselors and 38 clinical geneticists from the Human Genetics Society of Australasia completed an online survey to assess their views on DTC-GT [39]. Only a small minority of respondents (7 %) reported that they felt confident in accurately interpreting and explaining DTC-GT results. Eleven percent responded that a client had been referred to them after receiving DTC test results. Most respondents did not feel that DTC-GT was useful for anonymous testing (54 %) or for those who are geographically constrained (60 %). The authors concluded there is a general lack of confidence among genetic health professionals around interpreting DTC-GT results but suggested that confidence might increase over time as professionals gain more experience.


The past few years have seen a modest yet notable amount of empirical studies focused on DTC-GT. Findings from this research begin to shed light on the various questions that have been raised regarding this controversial approach to personal genomics. One area of interest has been the ways in which DTC-GT services are marketed to consumers. Our review of the limited data evaluating DTC-GT companies’ “product descriptions” reinforce concerns raised by commentators about the potential for customers to be misled about the benefits versus risks and limitations of test services. For example, that almost two-thirds of companies reviewed neglected to note any risks of testing is particularly concerning. However, it should be noted that the companies reviewed represent a very heterogeneous group, and that the most commonly used sites do in fact disclose potential psychological and social risks of learning personal genetic information. Nevertheless, it would be naïve to expect a truly balanced, nuanced view of testing from any company’s promotional materials, such that public education from disinterested third parties would seem appropriate [9]. Concerns about “truth in advertising” of health-related products are not unique to this industry; moving forward, lessons might be taken from prior regulation debates involving over-the-counter nutriceuticals and DTC advertising of prescription medications [40].

Studies suggest that public awareness of DTC-GT within the US has steadily increased in recent years. This is not a surprising finding given the high-profile media coverage that the industry has received, including news stories across such diverse outlets as Time magazine, the New York Times, and NBC’s Today show [1, 41, 42]. Also as would be expected, awareness varies by demographic groups and family history of various medical conditions. The prototypical consumer appears to be a white, well-educated, middle-aged professional, with various reasons for pursuing DTC-GT services. Many are health-focused, but others are more generally curious about their genetics and in tracing their ancestral history. Some companies bundle very different types of genetic information (health risk, carrier status, medication response, ancestry) within a single service, appealing to the wide range of motivations people seem to have in learning about aspects of their own genetic profile. These motivations are also a reminder that consumers often have a much different view of the benefits of test results than do expert commentators and health care professionals. The latter tend to view genetic testing through the lens of clinical utility, where findings are seen as valuable to the extent that they possess predictive value and/or inform proven medical care options. However, consumers interested in DTC-GT results may find personal utility in satisfying curiosity and in feeding a general sense that “knowledge is power.” Although test interest may well be driven by a fascination with what Nelkin has termed the “DNA mystique,” many individuals who seek DTC-GT results may possess complex, meaningful rationales for testing that need not be dismissed as irrational or frivolous [43].

Legitimate concerns, however, have been raised that individuals who purchase DTC-GT services may not fully comprehend the risk information that they receive [44]. Available studies do not support the notion that laypersons will be given to gross misunderstandings of their test results, such as believing that “genetics is destiny” with regard to risk of common diseases. Indeed, several studies reviewed here suggest that most participants will be able to take home the “gist” of test result information, even without professional assistance. However, these same studies also suggest some biases and misinterpretations of the nuances of test results, including difficulties in interpreting complex numerical information and a tendency to overrate the clinical benefits of test results. Interestingly, some data suggested that consumers may also overrate their own ability to make sense of test results, which may help explain why they are not likely to consult health professionals for assistance with test interpretation, even when those (e.g., genetic counselors via telephone) are readily available.

The findings on the psychological impact of DTC testing are consistent with research findings on genetic testing in general: namely, that catastrophic reactions are very rare and that test recipients tend to adjust adequately to risk information [45]. Given that the vast majority of genetic markers tested for by DTC companies are low penetrance alleles with modest associated attributable risk, it is not surprising that the modal reaction may be, in the words of Caulfield, “more of a shrug than a shriek” (p. 24) [46]. The case report on BRCA testing from Dohany et al. [32] however, reminds us that not all responses to test information are benign. Given the importance of expectations in determining emotional reactions to almost any life event, clinically significant findings that are completely unanticipated (akin to “incidentalomas” in medical testing) would seem to be the most likely type of result to induce distress. As the capabilities and uses of whole-genome sequencing increase, we may well need to “expect the unexpected” with regard to results that are not well-considered upon initiation of testing. One protection against harms here may be use of tiered consent processes, where test recipients are asked in discrete steps to consider and make choices about the different types of information they would and would not be interested in receiving [47]. Some companies have attempted to employ this type of process in their services. 23andMe, for example, does not provide immediate access to BRCA results or risk of Alzheimer’s disease when returning results to its customers; they are asked instead to read through additional information on the benefits, risks and limitations of testing in these contexts before being given an option to “unlock” their results. However, it is unclear whether online users engage in the type of “cooling off” processes (i.e., taking significant time between learning about and receiving test findings to prepare emotionally and decide whether or not one truly wishes to learn one’s results) that would be enforced in genetic counseling models for conditions like Huntington’s disease [48].

Of course, results that evoke significant emotional distress may nevertheless be of medical benefit to genetic test recipients and their family members. This point is underscored by the Francke et al. [33•] report that noted the identification of numerous BRCA mutation carriers via DTC-GT services. These are women who may not have been identified in the health care system, given the evidence that more referrals for genetic services should be occurring among women with high risk of BRCA mutations [49]. In this instance, many cases of breast cancer were either detected early or likely prevented via risk-reducing surgeries. The evidence for DTC-GT as an overall disease prevention tool, however, is quite minimal. Although some studies reviewed here suggest positive health behavior changes in response to DTC-GT information, the research in this area is plagued by design flaws, including lack of comparison groups or well-validated outcomes measures. The most rigorous study in this area suggested no improvement over baseline among DTC-GT recipients in terms of diet and physical activity [30••], a finding consistent with the broader literature on health behavior changes in response to genetic risk information [50]. Indeed, genetic risk information, whether delivered via DTC or other formats, is unlikely to be a “magic bullet” in the difficult work of promoting behaviors such as healthy eating, sustained and regular physical activity, and smoking cessation.

There is also not much evidence at present that DTC-GT results prompt notable changes in terms of health care utilization. Although extant studies suggest that roughly a quarter of test recipients do in fact share their results with their PCP or other health professionals, significant post-test changes have not have been observed in terms of number of physician visits or use of screening tests and other medical procedures. It is difficult to draw definitive conclusions in this area given the limited number of studies and the fact that personalized genetic information is still in the early stages of diffusion into the lay public. But concerns about provision of DTC-GT leading to ‘overtreatment’ and undue burdening of PCPs [51] are not well-supported by the current literature. On the other hand, there is also presently no evidence that DTC-GT results generate more appropriately tailored use of proven tools for screening and early detection of common diseases.

Professional organizations representing clinical genetics providers and other health professionals have expressed significant reservations about DTC-GT, and findings from surveys of providers in the field echo many of these concerns. Many PCPs and genetics specialists express doubt not only about the clinical utility of this approach, but also about their own ability to help consumers accurately interpret test results [52]. However, some genetic counselors believe that DTC-GT can be appropriate in certain circumstances, particularly if it is conducted to address disparities in access to genetic testing (e.g., among rural populations) and followed up with counseling and education by telephone. Genetic counselors occupy an interesting niche in the DTC-GT space, playing numerous roles at once: industry critics, researchers in the field, counselors of consumers, and company service providers. This group may be uniquely positioned to advance the debate on DTC-GT services moving forward.

Directions for Future Research

The DTC-GT literature reflects the relatively short time in which major DTC companies have been operating, as well as the challenges involved for social and behavioral scientists in assessing consumer responses to this fast-changing industry. Some early industry leaders (e.g., deCODEme, Navigenics) no longer offer test services, while others have undergone dramatic changes in their business models. Even those who have been consistent in providing services in a DTC format have significantly reduced prices, increased numbers and types of genetic information, and added supplementary services (e.g., telephone access to genetic counseling). The “moving target” nature of the industry does not mesh well with the deliberate pace of the academic review process for grants and publications. As a result, many of the studies noted here reference responses to test services that may be outdated even before the findings are published.

From a methodological standpoint, the literature can be critiqued on numerous fronts. For example, there has been an overreliance on descriptive (versus hypothesis-driven), atheoretical studies, use of convenience samples, and mock testing scenarios. Although well-controlled experimental designs can be useful in illuminating psychological and cognitive processes in response to different types of test information, there is no substitute for the “real thing” when trying to understand how people will react to DTC-GT. The genetic testing literature has long demonstrated an incongruence in hypothetical versus actual responses to testing (e.g., at-risk individuals’ intentions to seek testing for Huntington’s disease far outstripped uptake rates once testing became available) [53]. The affective forecasting literature from psychology also suggests a general tendency for people to overrate the intensity and duration of their emotional reactions to future events, which would include receiving genetic risk information for a variety of health conditions [54].

Given these limitations, future research is needed across all the domains described above. Such studies would benefit from designs that are prospective in nature, involve longitudinal follow-up and use of appropriate comparison groups, and access to more representative samples. Also welcome would be a focus on family-level responses and decision making [55]; despite the implications of genetic information for family members, relatively few studies have examined in detail how families (versus individuals) are impacted by the provision of DTC-GT results.

Researchers have not typically had access to consumers’ own individual test results, hampering assessment of laypersons’ comprehension of their own results (e.g., accuracy of risk perceptions) and understanding of their implications. One ongoing study, the NIH-funded Impact of Personal Genomics (PGen) Study [56], is attempting to address this gap in its examination of consumers’ responses to their personal DTC-GT results (full disclosure: the lead author is joint Principal Investigator on this project). The study has enrolled over 1,800 customers of two leading personal genomics companies who are followed over time to examine motivations and attitudes toward testing, understanding of their own results, and psychological and behavioral impact of test information.


In sum, the DTC-GT research to date provides support neither for the doomsday scenarios of industry critics nor the naïve optimism of its proponents. Given the current lack of evidence for either dramatic harms or widespread health benefits associated with DTC-GT, one may be excused for concluding that the charged policy debates of the past years have been a bit of a ‘tempest in a spit cup.’ Of course, the DTC-GT landscape may change as the research in this area matures and the service delivery models in the field evolve. In the meantime, we should resist temptations to make sweeping generalizations about a heterogeneous industry and seek more a systematic, nuanced understanding of the benefits, risks and limitations of the DTC-GT approach.