Framing genetic risk: trust and credibility markers in online direct-to-consumer advertising for genetic testing

Abstract

This study looks at Internet direct-to-consumer advertising (DTCA) for genetic testing to assess the way in which genetic risk information is framed to consumers, and strategies to establish trust and credibility in this context. Keywords specific to genetic test DTC advertising were entered into popular Internet search engines, arriving at 22 companies. Representations of benefits and risks on company websites were coded and themes were developed pertaining to promotional information of genetic tests for a variety of health conditions. Two strategies were most frequently used by companies to frame risk: underlining the basis of the condition, often with genetic determinist and essentialist undertones, and stressing the commonality of the conditions. Major credibility and trust markers employed were indications of organizational professional accreditation/recognition and credentials of company executives and staff. The DTC ads examined provided limited, vague or inaccurate information about disease etiology and promoted tests for use in broader at-risk populations than is normally indicated in clinical practice. Implications of these trends for Canadian consumers and clinicians are discussed.

Keywords:

• direct-to-consumer advertising
• genetic testing
• risk communication
• trust
• credibility

Introduction

Genetic tests have become a significant offshoot of the mapping of the human genome and are of growing importance in clinical medicine and public health. The control of disease and health outcomes are increasingly based on findings of genetic variations in individuals which in turn could suggest more personalized approaches to treatment. Many companies have begun to engage in direct-to-consumer advertising (DTCA) to promote genetic tests on the basis of preliminary findings or association studies that show correlations between various genotypes and disease outcomes.

In the context of this paper, “direct-to-consumer advertising of genetic tests” refers to the promotion of genetic tests through various media including print, broadcast and the Internet, targeted to consumers without the intervention of a health professional. While one can make a distinction between direct-to-consumer advertising and direct-to-consumer sale of genetic tests, the line between the two is often blurred (Hogarth et al. 2008). More often than not, the sale of a genetic test is the goal of the promotional message (Hogarth et al. 2008) although this paper directly analyzes only the latter. Both sets of practices have been the subject of much debate in the context of genetic testing (National Human Genome Research Institute 2004, Human Genetics Commission 2007, Takada Genetics Research Lab 2008).

This paper investigates genetic risk and how it is framed and qualified through the use of markers of trust and credibility used by companies over the Internet in DTCA of genetic testing. This builds on the results of an earlier paper that reported company promotion practices and company provisions for access to genetic tests promoted direct-to-consumers over the Internet, in terms of physician mediation of testing and genetic counseling provision (Geransar and Einsiedel 2008). The study found that the most contentious class of genetic tests, those purported for use for health “enhancement” purposes, were being offered with the least oversight on the part of healthcare professionals.

DTCA has an extensive and well-documented history in pharmaceutical advertising (Wilkes et al. 2000, Lexchin and Mintzes, 2002, Lyles 2002, Palumbo and Mulins 2002, Metzl and Howell 2004, Gellad and Lyles 2007). We draw upon that body of literature to provide context to the issue of DTCA for genetic testing, as genetics tests are now one of many classes of health products advertised directly to consumers. Trust and risk perception are central to a consumer's decision to choose a product, and effective advertisements succeed at building trust and attenuating risk perceptions. The issues of trust and risk perception on the part of the consumer are also applicable and similar across many classes of marketed technologies. These issues will be explored through online risk framing literature in order to provide insight into the case of DTCA for genetic testing.

Advertising drugs directly to consumers

DTCA has a long history that precedes even that of direct-to-physician advertising. Social historian James Harvey Young (1966, 1992) has documented the first patent medicine advertisement in 1708 for a remedy called “Daffy's Elixir”, placed in an American newspaper by Nicholas Boone of Boston. Many such patented and non-patented remedies imported from Britain were advertised indiscriminately direct-to-consumers in the American market over the next 200 years. Direct-consumer-marketing of pharmaceuticals was curbed in the late 1930s with the introduction of legislation requiring safety, and later, efficacy as conditions of marketing to the public (Metzl and Howell 2004, Tomes 2005, Gelland and Kenneth 2007). DTCA made a resurgence in the 1980s, keeping pace with the patient rights movement and the trend in biomedical ethics towards considerations of patient autonomy,1 and began to exponentially increase in the US after 1997 with the introduction of US Food and Drug Administration (FDA) legislation that allowed DTCA in broadcast and electronic media (Gellad and Lyles 2007).

The United States and New Zealand are currently the only industrialized countries that permit DTCA of prescription drugs.

The amount of annual spending on DTCA for pharmaceuticals has more than quadrupled since 1996, whereas direct-to-physician advertising has barely doubled (Donohue et al. 2007). Drug makers spent nearly $5 billion on DTCA in 2006, according to Nielsen Media Research, and American TV viewers in 2004 were found to watch an average of 30 hours of drug ads per year (Wall Street Journal, 16 April 2007). In terms of industry marketing efforts in 1999–2000, 12% of the growth in prescription drug spending or $2.6B was attributed to DTCA, yielding $4.20 for every dollar spent on DTCA (Rosenthal et al. 2003). A comparison of per capita expenditures on prescription drugs in the US and Canada showed a difference emerging at the same time DTCA was allowed in the US. From 1975 to 1994 (before DTCA was allowed), the difference in inflation-adjusted expenditures on prescription drugs between the two countries was no more than $36 per capita (in 2005 Canadian dollars), with DTCA spending in the US no more than $2 per capita. From 1995 to 2005, inflation-adjusted per capita spending on DTCA grew from $2 to under $18 in 2005, with an accompanying difference in per-capita expenditures on prescription drugs between the two countries of $31 in 1995 to $356 in 2005 (inflation-adjusted and in $2005 Canadian dollars). This difference, after 20 years of relative stability, was attributed to the removal of DTCA restrictions in the US while remaining in place in Canada (Morgan 2007).

However, DTCA tends to frame disease in simplistic terms, usually focusing on biochemical causes, overstating benefits of the drug, and using emotional messages to sell. For example, an analysis of seven years of print advertising for the three top brands of anti-depressants following deregulation of drug advertising in the US found that such advertising tended to frame depression primarily as biochemical in nature, privileged benefits over risk information, and did not adequately educate consumers. Themes of loss of control without medication were prevalent and were typically followed by regaining control and social approval with anti-depressants. Products were also frequently represented as medical breakthroughs (Frosch et al. 2007).

The value of such DTCA and marketing efforts of medical products and services has been the subject of considerable debate. Some have suggested that DTCA responds to consumers' rights to and need for information, can provide earlier diagnosis of serious conditions, better treatment adherence, and improved health outcomes information (Holmer 1999, 2002, Lyles 2002). However, there is little evidence for such claims (Lexchin and Mintzes 2002). A US congressional committee concluded that DTC ads do not effectively or consistently convey important information about product risks and benefits (Senate Special Committee on Aging 2005).

On the other hand, there is substantial evidence that consumer awareness of advertised prescription products has increased and this exposure to such advertising has impacts in the clinical setting (Lyles 2002). Berger et al. (2001) suggest that patient expectations and physician perception of patient expectation for a prescription medication appear to correlate with the issuance of a prescription. About seven times out of 10, physicians have partially acceded to inappropriate DTC requests from their patients, pointing to the importance of understanding how consumer expectations are shaped (Murray et al. 2004). When the US FDA surveyed a sampling of primary care and specialty physicians in 2002, 41% of all physicians said they believed their patients were confused about a drug's efficacy because of DTC ads they saw; 22% of primary care physicians and 13% of specialists said they felt “somewhat” or “very” pressured to prescribe a drug when a patient requested it (Behrman 2005).

Genetic tests on the Internet

Against the background of DTCA of pharmaceutical products, genetic tests are a relatively recent but related category of health products and services often promoted to consumers over the Internet. Depending on the type of genetic test being marketed, advertisements are often directed at particular groups of consumers, such as parents in the case of prenatal testing, healthy adults in the case of nutrigenetic testing, patients utilizing particular classes of medications for pharmacogenetic testing, particular ethnic groups such as Ashkenazi Jews for certain single-gene disorder testing, and so forth.

Many consumers of web-based information are aware to some extent that the information content available through the worldwide web should be treated as suspect unless acquired through a reliable source. This makes it all the more crucial that many of the organizations offering genetic testing services use strategies to build trust and gain credibility from the perspective of consumers. Examples of these strategies are explored later in this paper.

Direct-to-consumer advertising is often coupled with direct-to-consumer provision of tests, in which the consumer, rather than his or her physician, directly orders the test from a given company. Consumers who order such tests often receive a DNA sample collection kit by mail; sample collection is typically in the form of a cheek swab that is mailed back to the company or to a suggested laboratory. Consumers are usually notified of their results by mail, telephone, or over the Internet. A genetic counselor or other healthcare provider, in some instances, may be available to respond to questions or explain results. Tests range in costs from around a hundred dollars to several thousand dollars.

Many companies market a broad range of genetic tests, including clinically available tests for disorders such as cystic fibrosis and hemochromatosis.2 Genetic tests for nutrition, behavior and aging are also available on other websites. Secondary promotion of a variety of products, from face creams to dietary supplements, claimed to be formulated specifically for the consumer's genetic composition, may accompany the test results.

There has been considerable and vigorous debate about the value of genetic tests promoted directly to consumers, and this has to some extent mapped on to the claims made regarding DTCA for pharmaceuticals (Tracy 2007). On the one hand, some argue that direct-to-consumer genetic testing may promote awareness of genetic diseases and allow consumers to take a more proactive role in their healthcare. A network of patient organizations has maintained that offering these tests directly to consumers could increase access to a particular genetic test, especially when such access is already limited through the healthcare system and that such tests afford privacy and security that might be desirable for consumers (Genetic Alliance 2008).

However, at-home genetic tests also have significant risks and limitations. Consumers are vulnerable to being misled by the results of unproven or invalid tests (Government Accountability Office 2006). Without guidance from a healthcare provider, they may make important decisions about treatment or prevention based on inaccurate, incomplete or misunderstood information about their health (Gollust et al. 2003). Consumers may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way or company procedures provide insufficient safeguards for privacy. Finally, the availability of genetic testing over the Internet may have negative consequences for resource allocation by placing an unfair burden on primary care physicians (Wasson et al. 2006). A US government handbook reminds consumers that

Genetic testing provides only one piece of information about a person's health – other genetic and environmental factors, lifestyle choices, and family medical history also affect a person's risk of developing many disorders. These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests. (Genetics Home Reference 2008)

More recently, the American Society of Human Genetics' position paper on DTC genetic testing advocated transparency on the part of companies offering DTC genetic testing by recommending the following: companies should disclose information about the test's sensitivity, specificity and predictive value, the risks associated with the test, the strength of its scientific base, the clinical evidence for and against any treatment recommendations, the laboratory's certification status, and the company's privacy protection policies (ASHG 2007, Hudson et al. 2007). While this professional association did not necessarily warn consumers away from utilizing such services, the American College of Medicine – Genetics Board of Directors issued a statement saying genetic testing should be offered to the public only through appropriately qualified healthcare professionals (ACMG 2004). As suggested by Collins and Guttmacher (2001, p. 2322):

Before moving such diagnostic tests into mainstream medicine, it is critical to collect data about their clinical validity and utility. Premature introduction of such predictive tests, before the value of such information has been established, actually could be quite harmful.

If we consider the context for accessing these genetic tests on the web, several factors are at play. First, the individual is typically experiencing some worry or concern and is asking himself or herself “am I at risk?” Second, there may be additional concerns or questions including the need for (more) information about the illness or condition, about the role of genes and genetics, the need for privacy and confidentiality, cost, and uncertainty about the potential complexity of procedures involved, among other things. Third, many companies engaging in DTCA over the Internet also supply testing services direct-to-consumers, with no opportunity for face-to-face interaction. In most cases, the individual is not relying on a known commercial entity; most, if not all, of the companies offering such tests are typically unfamiliar to the average consumer. Thus, the consumer does not have access to the communicative markers that characterize face-to-face transactions that could make it easier to assess trustworthiness or credibility. Fourth, in addition to sharing financial information typical of Internet transactions, the consumer must also share other sensitive personal information with the company (health, medical, family histories).

Genetic tests offered directly to consumers on the Internet are examples of what economists call “credence goods”. These are goods whose utility is difficult or impossible for the consumer to ascertain, due to the levels of expertise required in the assessment of its utility. This is in contrast to “experience goods”, where the consumer is in a position to assess such utility due to familiarity with the class of products or services. Some types of medical treatment are examples of credence goods, creating a situation of asymmetric information, in which the seller has the upper hand in terms of knowing the utility value of the good and the buyer is reliant on the credibility and trustworthiness of the seller.

Thus, the online transaction for a genetic test is not only characterized by uncertainty; it is also characterized by dependency. All of these factors put the consumer in a position of vulnerability, highlighting the need for the establishment of a trust relationship between consumer and vendor. On the other hand, one could argue that the Internet could also allow for the elaboration of other markers such as a venue through which to provide more information, privacy and confidentiality. The following section will elaborate on risk-framing and trust-developing strategies in this context.

Framing risk and trust

Much of the earlier literature on risk focused on the mental processes of the individual actor, with emphasis on “the view that distinguishes between expertise and ignorance, and the concern with improving communication to rectify the latter by ensuring that lay models correspond more closely with those of experts” (Taylor-Gooby and Zinn 2004, p. 399). This cognitive and consequentialist framework underlies many of the current theories of choice under risk or uncertainty. It assumes that people evaluate the desirability and likelihood of possible outcomes of choice alternatives and integrate this information through some calculus of expectations to reach a decision.

Other studies on risk show the picture is more complex (Breakwell 2007). People develop convenient mental strategies or cognitive heuristics to help in their evaluative activities which, in turn, are influenced by social contexts and networks. Emotional and affective factors are also significant in how people respond to and process risk information and make choices. Drawing on research from clinical, physiological and other subfields of psychology, studies on risk-as-feelings show that emotional reactions to risky situations often diverge from cognitive assessments of those risks. When such divergence occurs, emotional reactions can frequently influence behavior. This approach has been shown to explain a range of phenomena that have resisted interpretation in cognitive-consequentialist terms (Alhakami and Slovik 1994, Loewenstein et al. 2001).

Trust is also central to risk contexts. The literature in a variety of fields from philosophy to sociology and management is replete with studies on trust (see e.g. Lewis and Weigert 1985, Mayer et al. 1995, Sullivan and Transue 1999, Warren 1999) and numerous definitions of trust have been promoted (Corritore et al. 2003). Trust has been variously described as a mechanism for reducing complexity and for dealing with uncertainty (Luhman 1988). Notions of expectation and reliability are also explicit in other descriptions of trust, presented as the expectation that one can rely on the words or promises of another (Rotter 1971). Others have described trust in terms of confidence, that is, “the mutual confidence that no party to an exchange will exploit another's vulnerabilities” (Lewicki and Bunker 1996, p. 115). In the absence of knowledge about the other party or institutions, trust has also been described as a process of sense-making, with reliance on cultural sentiments, familiar modes of reasoning and heuristics (Walls et al. 2004).

One conceptual approach is particularly relevant to the online environment and potential purchase of genetic testing services advertised directly to consumers: trust is “the willingness of a party to be vulnerable to the actions of another party based on the expectation that the other will perform a particular action important to the trustor, irrespective of the ability to monitor or control that other party” (Mayer et al. 1995, p. 712). In a similar vein, Corritore and colleagues (2003, p. 740) have suggested the following to describe online trust for the individual towards a specific transactional or informational website: it is “an attitude of confident expectation in an on-line situation of risk that one's vulnerabilities will not be exploited”. How the interests of the source of communication are viewed can also be critical to the judgment. Sources with identifiable commercial interests will be likely initially discounted so efforts at communicating trustworthiness become important. Taken as a whole, these descriptions of trust demonstrate both the cognitive and affective dimensions of trust.

It is in this context that we posed the following research questions. First, in communicating genetic risk, how is this risk framed? What approaches are used to help the consumer come to a decision to take (or not take) a test? Second, due to the context we have just described, trust and credibility become critical dimensions to the decision context; therefore, what markers of trust and credibility are employed?

Methods

Company websites engaging in DTCA were qualitatively analyzed to arrive at risk-framing strategies and categories of credibility and trust markers for analysis. A non-random sampling method was employed using popular and publicly accessible Internet search engines such as Google and Yahoo in order to simulate a consumer's Internet search leading to company websites and advertisements. Companies engaging in DTCA for genetic tests were identified by using keywords and phrases such as “genetic test” and “susceptibility test”. As well, snowball sampling was employed by using search results from such sources as news articles, commentaries, and non-governmental organization reports. Their references to genetic testing companies were used as “referrals” to appropriate companies and company websites. In addition to the use of search engines, several popular health websites such as MedLine, WebMD Health, and others were searched using keywords such as “genetic test” in order to account for the potential for referral to companies from such sources through paid endorsements and pop-up advertisements.

We included all companies found through the search if their websites promoted genetic tests related to health and well-being directly to consumers. Companies that were clearly oriented only towards health professionals or researchers were excluded. We defined an explicitly consumer-oriented website as one that had a designated section on the site for “patients” or “consumers”. Some companies were more subtle in their targeting of consumers; instead of an explicit section of their websites being marked for consumers, these companies' websites simply addressed the reader as a potential user of the testing services and provided the option to order home test kits.

In the previous phase of this study, we used a sample of 24 companies generated by this method to examine company requirements for physician mediation, genetic counseling arrangements, and information provision (Geransar and Einsiedel 2008). We found that companies offering risk assessment and diagnostic testing were most likely to require that testing be mediated by a clinician, and to recommend physician-arranged counseling. Companies offering enhancement testing were more likely not to require physician mediation of services and to provide long-distance genetic counseling. While information on disease etiology was provided on many of the sites, the validity of the tests for multifactorial diseases remains questionable.

The second phase of this study, reported here, focuses on the framing of risk and the strategies for eliciting trust from and communicating credibility to the consumer. However the sample of companies had changed over the two-year period that had elapsed (N = 22). Two companies were no longer offering genetic testing services, and some companies had shifted the focus of their products and/or their target market. Over half of companies engaged in DTCA were also engaged in direct-to-physician advertising, and approximately one-third were engaged in direct-to-consumer provision of genetic tests. This dynamic continued to shift during the preparation of this manuscript, in favor of the advertising and direct-to-consumer provision of a greater variety of genetic tests.

The analysis focused on two areas: an analysis of risk-framing strategies, and a determination of trust and credibility markers.

Risk-framing strategies

The discussion of risk is meaningful in reference to a specific activity, and since different genetic tests carry different levels of risk, discussions of this sort are highly dependent on the particular genetic test involved. The first stage of determining risk-framing strategies involved selection of one health condition from each website engaged in DTCA. Selection of the health condition was done on the basis of representing a range of illnesses for which genetic tests are marketed, including single-gene and multifactorial diseases as well as tests for enhancement purposes. The geographic location of companies and the health conditions selected for this study are presented in Table 1.

Table 1. Companies and health conditions included in study.

Companies in samples (coded*) N = 22	Examples of disease/health condition analyzed
Australia.1	Alzheimer's
Belgium.1	Breast, ovarian cancer
Canada.1	Carrier screening – ethnicity-based
Canada.2	Colon cancer
Canada.3	Cystic Fibrosis
Canada.4	Depression
Germany.1	Diabetes
South Africa.1	Factor V Leiden & Prothrombin mutations
US.1	Hearing loss
US.2	Heart and bone health, insulin sensitivity, anti-oxidant and
US.3	detoxification effectiveness
US.4	Heart disease
US.5	HPV
US.6	Immunology tests
US.7	Metabolic disorders
US.8	Neurogenetics
US.9	Nutrigenomics (weight loss)
US.10	Osteoporosis
US.11	PGD
US.12	Pharmacogenetic/drug-gene report
US.13	Sports performance
US.14	Trisomy 21, Trisomy 18, spina bifida and anencephaly
Note: *Numerical codes are assigned to companies in alphabetical order and according to country of headquarters.
Countries and diseases/health conditions are arranged alphabetically and are not intended to coincide.

We then did a close reading of the communication approaches for each health condition to arrive at the strategies employed for framing risk. Because our analysis was based on pre-selected tests (covering a broad range of conditions and genetic bases), we made an assumption that a consumer or patient who selected a genetic test for, say, diabetes, was engaged in a purposive rather than random search. We then postulated a set of questions which we thought someone in that situation might ask. Would this test be useful or relevant for me and how would I access this test? We tested these initial postulations with further close reading of the information on the sites, resulting in a third question that companies were providing information or rationales for: why is it important for you to know your risk? This process resulted in categories of messages around these question themes: (1) What is your risk for condition X? (2) Why is it important for you to know your risk? (3) How is the risk assessment made? Providing the consumer the opportunity to answer the first question could theoretically respond to a consumer's need to know and a company's interest in making “a sale”. The second question category includes rationales presented by the company to convince the consumer to undergo the risk assessment. The third category is the opportunity for the company to inform the consumer on the processes and potential outcomes involved. This includes information on completing the transaction with the purchase of the genetic testing service.

In using this approach of analyzing risk framing strategies across a variety of conditions rather than comparing conditions or tests that are more similar (e.g. chronic conditions or focusing only on nutrigenomic tests, or one type of test offered by several companies), we recognize that the comparisons one can make may be less precise. On the other hand, by specifying general questions a consumer may bring to an Internet search for genetic testing information, it has been possible to draw out some common strategies used by different companies to respond to these questions.

Analysis of credibility and trust markers

We also investigated markers of trust evident in each site. We asked three naïve coders to examine the sites and collaboratively generate a list of factors or attributes that suggested the site or information could be “trusted” or viewed as credible. The coders included two individuals from at-risk groups who might be potential users of such sites. One was a healthy young adult whose parent and grandparent were diabetics; the second was a young woman whose aunt had died of breast cancer.

After generating the list, coders then went back to the sites and identified which of the credibility markers identified within the sample as a whole were being utilized on each individual website. We then further classified the credibility markers into categories to show the common approaches utilized. These classifications were used to generate an aggregate summary of the prevalence of use of each category of credibility markers in the sample.

Results

Risk framing strategies

What is your risk for condition X?

In our analysis of the strategies used by the companies (summarized in Table 2), in response to the first question, two strategies were most frequently used: underlining the genetic basis for the condition and stressing the commonality of the condition. In the first instance, 18 of the 22 companies – over eight in ten – emphasized the genetic explanation for the conditions. For example: “A brand-new test will tell you whether you carry a genetic marker known to substantially increase the risk for type 2 diabetes”; another site asks: “Do you think that your obesity is caused by genetic factors? Advances in DNA technology may provide you with the answers you are seeking.”

Table 2. Framing risk: thematic strategies.

Question	Strategy (N = 22)*	Example
Are you at risk?	Importance of genetic basis [18]	All 19 genes analyzed influence these five areas of health
	Condition is common [12]	Hearing loss is one of the most frequent hereditary defects
Why is it important for you to know your risk?	Need to resolve problem; benefits of resolution; consequences of delay [10]	You can use prevention strategies earlier in life
	Importance of taking control [4]	Choose to know, take control Learning more may reduce your anxiety
	Backed by scientific research [8]	Test X looks for a unique genetic marker that has been validated by independent researchers in studies of tens of thousands of people all around the world
How is this assessment made?	Simplicity of approach [9]	Safe, simple, convenient Fast and painless Enables accurate and definitive diagnosis of many conditions
	Specialized risk assessment tool [9]	An accurate DNA-based diagnosis of patients with neurogenetic disorders can therefore enhance the management of their condition
	Individualized, tailored outcomes [4]	Once your diet, lifestyle and genes have been analyzed, we'll send you a confidential personalized Action Plan of up to 100 pages, telling you how to match your diet and lifestyle to your genes.
	Pros and cons of test [4]	Pros: you want to know if you have an inherited risk for developing type 2 diabetes; a positive test would motivate you to take preventive measures; you have one or more risk factors such as being overweight and would like a more complete picture of your risk. Cons: You are not interested in learning if you have a genetic risk for diabetes; you are not concerned about your risk; you are concerned about how you would react to a positive test result
Note: Numbers in brackets represent the number of companies whose messages exhibited this theme.

The second prong of this strategy emphasized the commonality of the condition. One site offering a genetic test for depression cast its net widely by suggesting that depression was linked to 15 different physical conditions, from nutritional inadequacies to fatty acid deficiencies and hormonal imbalances, each of which could benefit from a variety of genetic tests. Another answered its own question of who should take its genetic test by suggesting the test was appropriate for “any adult who is interested in knowing their genetic predisposition for certain diseases and conditions”. Another essentially identified ethnicity as a qualification by suggesting: “some recessive genetic conditions are known to occur with an increased frequency in certain ethnic groups; even when there is no obvious family history of a disease, there is still a risk that any individual may be a carrier for a recessive disease based on ethnic background.”

While a majority of the companies – 14 of 22 – identified risk factors for a given condition (e.g. family history, age, gender or condition relevance), in some instances, there was a tendency to expand the class of at-risk individuals. For example, one site promoting its test for Factor V Leiden testing, a test identifying a mutation which causes venous thrombosis (clotting of venous blood), mentions “family history of thrombosis”, in contrast to the recommended testing guidelines of the American College of Medical Genetics which provides a more specific indication: “relatives of individuals with venous thrombosis under age 50” (Grody et al. 2001, p.141). A genetic test marketed for osteoporosis mentions “10 million individuals estimated to have the disease in the US and 34 million estimated to have low bone mass” who are at increased risk. Nowhere is there any mention of environmental factors that also increase the likelihood of this disease.

Why is it important for you to know your risk?

The second question revolves around the theme of why it is important to know one's risk based on the genetic test. The message of control and empowerment was consistently emphasized, as demonstrated by these examples:

1.	“Self-knowledge leads to self-empowerment and self-improvement.”
2.	“Lead a better life by learning about your individual DNA make-up.”
3.	“Knowing your [X] genetic predisposition to inflammation can help you develop a health plan that will help address your risk for cardiovascular disease.”
4.	“Dedicated to women who choose to know all about HPV, and use that information to take control of their cervical cancer risk.”
5.	“Take the test, not the risk; choose to know, take control.”

The use of metaphors in some sites helped to persuade consumers to opt for genetic testing. The metaphor of genetic information as a code that could be deciphered was used to construct reasons for genetic testing; this was evident in such phrases as “unlocking your genetic code” or “genes hold the secret to well-being”. Another metaphor highlighted the context of high fashion, with genetic tests providing answers that could be “custom-fit” to the individual or affording “tailor-made” solutions. The third type of metaphor, that of “gambling”, was used to construct reasons not to forego genetic testing; this was based on the idea that making health decisions in the absence of the genetic knowledge conveyed by the company's tests was akin to gambling with one's health.

A second approach emphasized the fact that the invitation to take the genetic test or tests was backed by solid scientific studies. In the case of diabetes, one company claimed that its test “looks for a unique genetic marker that has been validated by independent researchers in studies of tens of thousands of people all around the world”. However, claims about the utility of the genetic test have been disputed and labeled “misleading” by scientists in an editorial in the British Medical Journal (Janssens et al. 2006). The scientists argued that even if the discovery led to an intervention that specifically targeted the effects of the genetic variant, 45% of the general population would need to receive the intervention to prevent 21% of the diabetes cases. Alternatively, the genetic test could identify those who were high risk who could benefit from tailored lifestyles, but carriers would find their risk increasing from 33% to 38%, raising doubts about whether this was sufficiently compelling as a reason in and of itself to warrant a change in lifestyle (Janssens et al. 2006). The authors concluded that “Raising unrealistic expectations – even inadvertently – could distract attention from what can be done by applying what we already know to prevent diabetes and its complications” (Janssens et al. 2006, p. 510).

How is the risk assessment made?

The third question focused on procedural and substantive issues around the test. The types of information provided in this area had to do with the elements of the test process as well as features related to the test. In the first instance, procedures outlined communicated the simplicity involved around the testing process on the part of the customer and on the part of the company. The company procedures were typically described to communicate efficiency, reliability and trustworthiness in terms of safeguarding privacy and confidentiality.

The second element was the opportunity to provide substantive information about the test, including information around the test's accuracy, validity, utility, benefits and limitations and the evidence base. One company discussed the risk in taking the test by asking rhetorically, “Is there any risk to my health in taking this test?” The response reassures the consumer that: “There is no risk whatsoever in taking the [Company] Genetic Tests.” Another company touted the benefits of its genetic test in terms of its quick administration, accessibility, and painless process.

The companies that provided some indication of an evidence base (8 of 21, or fewer than a quarter) covered a range of illnesses, from diabetes to Factor V Leiden, weight loss, heart disease, athletic performance, cystic fibrosis, HPV, pharmacogenetic testing (drug–gene interactions), and inflammation (attributed to 19 genes). In this case, while we have mentioned expert views disputing the validity of tests for some diseases (e.g. diabetes, osteoporosis, Factor V Leiden), we have not systematically assessed this evidence base other than to observe that the “scientific evidence” presented in these sites was limited in scope and varied in terms of relevance. In some instances, links to scientific studies would be provided (e.g. the discovery of a genetic mutation associated with a disease) but qualifying information such as the implication of many genes in the condition or gene–environment interactions was provided very rarely or not at all.

In the case of a genetic test for athletic performance, the company cites a study which proclaimed its value for any athlete, regardless of ability:

Regardless of whether you are an accomplished athlete, or a beginner, your ACTN3 Sports Gene Test^® result could assist you in optimising your training to make the most of your natural ability within a wide range of sports […] The scientific evidence to date suggests that knowing the results of your ACTN3 Sports Gene Test^® could help you to determine the types of sports or events in which you may be most likely to succeed.

Interestingly, the study which was cited as reference was more specific in terms of applying its findings to sprint athletes (in contrast to endurance athletes) and finding gender differences in genotype effect (Yang et al. 2003).

Sometimes, a company would resort to scientific jargon to sell its test: Company Y's “Comprehensive Cardio Assessment incorporates twenty-six SNPs (within twenty-one genes) associated with a variety of important cardio-functional areas that modulate blood pressure regulation, lipid balance and metabolism, vascular integrity, procoagulation, platelets and oxidative stress.”

Trust and credibility markers

Almost all company websites included product information, company history, contact information (toll free numbers or web forms) and were updated in the past year. Product information was often included as downloadable brochures, frequently asked questions about a particular genetic test or line of products and discussions of benefits and risks of testing. The pros and cons of testing were explicitly stated by only four companies in the sample but in three of these cases, the pros and cons were related not to the test features (e.g. the test's sensitivity, specificity or predictive value) but rather to the idea of being tested (see example in Table 3). Markers of professional credibility were employed by the majority of companies, the most common forms of which were specifications of the credentials of the management/executive team, accreditation by one or more licensing or other bodies, and reference to professional practice standards including safeguarding privacy and confidentiality. Approximately half of company websites provided scientific material or other publications (e.g. recommendations of professional organizations, media articles which were often company press releases, or media interviews with a company spokesperson) as references to support the claims made, with a few of these providing hot links to a key journal article, most of which would have been difficult for a lay reader to understand.

Table 3. Categorization of credibility markers.

Categories of credibility markers	Credibility markers	Number of companies
Professional credibility	• Credentials of management team	16
	• Accreditation	14
	• Adherence to professional standards	14
	• Sample reports & physician letters	8
	• Centre of excellence label	1
Publications	• Research publications	12
	• Other publications	12
	• Both	8
Product information	• Product information	21
	• Pros and cons of testing	4
Contact information	• Email contact	22
	• Phone contact	20
	• Mailing address	19
User-friendly site	• Lay-level	19
	• Easy-to-navigate	19
	• Attractive	18
Other credibility markers	• Site updated in past year	20
	• Company history	20
	• Consumer testimonials	8

The personalized approach is evident in the language used, with direct references to “you”, “your results”, “your health”. Testimonials by attractive “ordinary folk” allowed for a more personable approach and the inclusion of sample “personalized results” were also illustrative. Table 3 shows a summary of the trust and credibility markers employed by companies in the sample.

When these results are examined in the context of the research on developing online trust, it is clear that the websites promoting genetic testing in our sample are observant of the elements that illustrate different dimensions of trust-building (see Fogg et al. 2001, Corritore et al. 2003). These include ease of use, establishing credibility (in this case by using such attributes as laboratory certification or accreditation, company expertise and credentials, and claims to scientific credibility), and minimizing risk (Corritore et al. 2003). Addressing risk in this instance would involve minimizing undesirable outcomes. Here, the efforts of companies appear focused on reducing unpredictability by using markers of reassurance which include providing sample reports, testimonials of “satisfied users”, and anticipating consumer questions for which answers are provided (e.g. in Q and A formats or “Frequently asked questions” lists). What is most notable in these sites, however, is what is missing: substantive information about the test itself and the risks from testing which include risks of discrimination and risks for other family members.

Discussion

Despite claims that DTCA for genetic tests could serve an educational purpose, our findings suggest the sites provide limited, vague or inaccurate information about the causes of a disease or who may be at risk. They emphasize the risks of ignorance (by not availing oneself of a genetic test) and ignore the risks of testing; they sell the benefits of taking the test by playing on themes of individual control over social, emotional or physical lives. They oversell the benefits of genetic testing in ways that conflict with promoting population health.

By ambiguously defining who might actually need or benefit from genetic testing, the messages on the sites examined implicitly focused on persuading people they may be at risk for a range of health conditions that could be ameliorated by genetic testing. Almost all the sites used positive emotional appeals that related to individual empowerment through information and reassurance that one was not alone or in a small minority experiencing the potential genetic problem. The approaches could encourage site viewers, some of whom may not even be at risk or are at low risk for a condition to request inappropriate treatment or could arouse unnecessary fear, anxiety or guilt when considering implications for other family members.

Risks associated with the promotion of genetics tests directly to consumers

Genetic test results are often complex and difficult to understand. Consumers face some risks when tests are not offered, administered and analyzed in a traditional medical environment with the appropriate genetic counseling services. Genetic test results can have implications that touch individuals, whole families and generations of individuals; as such, these results should be treated as sensitive medical information, and subject to the same confidentiality standards and regulation as information divulged in the context of traditional medical environments. Furthermore, the provision of such tests should be part of a holistic approach to health and well-being, integrated into patients' existing healthcare schemes, mediated by qualified health professionals and subject to the appropriate level of regulatory oversight. The need for additional oversight of genetic tests, including the marketing of those tests, was evaluated in July 2000, by the Secretary's Advisory Committee on Genetic Testing (SACGT 2000), and in September 2003 by the Secretary's Advisory Committee in Genetics, Health and Society (SACGHS 2004).

Communication issues

The messages offered by commercial companies promoting genetic tests directly to consumers are a mix of hope, security, reassurance and authority. Additionally, the messages promoted in the case of susceptibility tests were a blend of “weak”-to-“moderate” genetic determinism3 and essentialism: the former suggests that the genes for which testing is being proposed have a significant causal link to the health condition; however, instead of adopting a fatalistic stance, the individual can actually do something about this. Taking the genetic test(s) was implied as being key. The essentialist message evident in some promotions consisted of the notion that our genes constitute our essence as humans. The almost absent discussion of gene–environment interactions or the contribution of multiple genes in many cases contributes to this assessment.

The interplay between risk and trust comes through very clearly in the strategies employed. Trust markers displayed by companies mostly pertain to institutional attributes, such as the company's expertise. Information around the product/service itself revolves around the risk assessment tool's novelty, high tech quality, proprietary nature and claims about its accuracy and sensitivity. The latter information notably excluded information about the test's evidence base and any actual or potential risks associated with genetic testing. Studies in the context of pharmaceutical DTCA have shown that presentation of qualifying information or risks accompanying product benefit information has a significant “balancing” impact on consumers' evaluation of the product (Davis 2007). Failure to provide such information amounts to exploitation of a consumer's potentially vulnerable position as a recipient of a highly specialized “credence” good.

The focus of companies engaging in DTCA over the Internet is on establishing online trust, given that there is no extant “off-line” relationship. As one researcher observed, “in a ‘new-comer’ situation, [the companies] have to compensate for their lack of good reputation by investing in trust-developing measures and signaling activities” (Grabner-Kräuter and Kaluscha 2003, p. 808). Here, the companies have clearly “excelled”. Studies in online trust have shown the importance of several factors in promoting online trust including source credibility, personalization of the information and predictability, this last feature referring to the site's reliance on a user's experiences and knowledge, ease of use, or responsiveness to questions that might typically come up in this purchase context (Fogg et al. 2001, Briggs et al. 2002). This is even more problematic when one considers that, for many people, making a decision about genetic testing for some conditions such as cancer is already influenced by exaggerated perceptions of personal cancer risk (Croyle and Lerman 1999). In the case of breast cancer for example, companies that offer tests with uncertain clinical validity or treatment effectiveness are even more exploitive when target groups already express high interest in testing even among those with low susceptibility (Tambor et al. 1998, Burke et al. 2003).

Policy issues

There is currently a lack of coherent regulatory oversight to ensure quality of genetic tests (ASHG 2007); there is limited oversight on analytic validity and virtually none on clinical validity. There is also limited ability to restrict commercial speech, leading to the Federal Trade Commission (2006) recently issuing a consumer alert warning. Others have argued that the challenges of this burgeoning industry require new resources and regulatory and oversight bodies (Human Genetics Commission 2003, 2007, Williams-Jones 2006). Overall, there has been little action at the federal level in the United States, where the majority of DTCA and direct-to-consumer provision of testing is based, to regulate and oversee these activities (Hogarth et al. 2008). Two bills introduced in the US House of Congress in 2007 promise to subject laboratory-developed tests to FDA regulations as “medical devices” and to direct the Department of Health and Human Services Secretary to improve the safety and effectiveness of such tests (Hogarth et al. 2008).

More recently, the push towards regulations has culminated in the State of California's Public Health Department issuing “cease and desist” orders to 13 California-based companies engaging in both DTCA and direct-to-consumer supply of genetic testing (California Department of Public Health 2008). The companies, one of which is included in our sample, were ordered to refrain from further provision of genetic testing services direct-to-consumers until they comply with California regulations, which require that a physician provide a requisition for such testing. Similar measures have also been issued earlier in New York, requiring appropriate company licensure to continue the provision of services (Pollack 2008).

However, the enforcement of the requirement for a physician requisition alone may not solve the problem of information complexity for patients and consumers, simply because mounting evidence indicates that the vast majority of healthcare providers are not at this time well equipped to discern appropriate indications or clinical utility of such tests, or to interpret test results (Myers et al. 2006, Goddard et al. 2007, Carroll et al. 2008, Shields et al. 2008). The concerns about building professional capacity are further exacerbated in some areas of genetic testing, such as nutrigenetics or pharmacogenetics, where appropriate application and interpretation of test results require specialized knowledge from multiple disciplines, for example, nutritional sciences and pharmacology (Castle and Ries 2007). Therefore, such immediate and forcible measures as those implemented in California may result in companies conducting their business in states or provinces that do not require physician intervention, or result in increased pressure on physicians from patients to order tests that they do not have the expertise to evaluate, and which the health system is not in a position to accommodate. Some companies in California have satisfied the state requirement simply by employing a company physician to mediate the provision of services (New York Times, 26 June 2008).

As policy decisions are ultimately grounded upon normative ethical, social and legal considerations of the ramifications of testing, given the available evidence, the criteria of clinical validity and availability of effective treatment are highly pertinent to assessment of tests in this context (Burke et al. 2003). Assessment of cost-effectiveness of genetic tests may also be based upon such criteria as the strength of association between genetic variants and clinical outcomes (the genotype–phenotype association), the prevalence of the high-risk gene variant, and the availability of an intervention to reduce risk in groups with the high-risk genetic variant (Higashi and Veenstra 2003).

While the policy and regulatory contexts are still evolving, other groups have jumped into the void, making recommendations to the public and professional communities. For example, professional societies are playing a critical role, although their public statements do not necessarily get much media attention. The statement made by the ASHG helps to clarify expectations for companies and for the public (ASHG 2007). The American Society of Clinical Oncology has similarly made pronouncements about genetic testing, developing guidelines for the public and healthcare professionals (ASCO 1996, Gray and Olopade 2003).

Consumer and other civil society organizations have also played a role in educating consumers about DTC genetic tests. GeneWatch, a UK NGO, has developed educational materials and, along with the UK Consumers' Association, successfully lobbied against the retail distribution of genetic tests by one of the companies in our sample (GeneWatch 2007). In the US, the Genetics and Public Policy Center has played a similar role in raising awareness about genetic testing marketed directly to consumers (Genetics and Public Policy Center 2007, Genetic Alliance 2007, 2008).

Genetic Alliance established the Consumer Task Force on Genetic Testing in September 2006. It is comprised of nine advocates who have experience in genetic testing from a variety of perspectives. This Task Force has raised participation of consumers to a higher level, allowing the various systems that desperately need consumer input to benefit from the consumer perspective. The Task Force is also instrumental in educating other consumers to be active participants in education and policymaking for genetic testing (Genetic Alliance 2008).

Given the findings in this study, the next step would be to investigate how members of the public respond to the strategies used in these websites. At the economic level, the question remains – is there a market expansion effect that can be explained by the availability of DTCA for genetic tests? The apparent proliferation of these genetic testing sites suggests that this may be the case.

Acknowledgements

This study is part of a Genomics, economic, environmental, ethical, law and society (GE3LS) project on Genomics and knowledge translation in health systems for which the primary author serves as Principal Investigator. The authors would like to acknowledge and thank Genome Canada for providing funding for the GE3LS project and this study.

Notes

Faden and Beauchamp (1986, pp. 91–101).

An inherited disease caused by improper processing of iron in the body, leading to iron overload in body tissues.

According to Resnik and Vorhaus (2006, p.3), “moderate genetic determinism” is a claim that “G [the gene] increases the probability of the T [the trait] and the probability of T, given G is greater than 50%.” “Weak genetic determinism” is the claim that “G increases the probability of T, but the probability of T is still less than 50%.”