DTC genetic testing companies fail transparency prescriptions

Abstract

In 2007, the American Society of Human Genetics issued recommendations for what the new and largely self-regulating industry offering genetic tests directly to consumers should disclose to potential customers. Websites for every DTC company offering health-related genetic tests as identified by a public policy group were evaluated for compliance with those transparency recommendations. The results showed that only six of the 25 companies studied met even 70% of the standards and that overall, the industry complied with the disclosure standards just 44% of the time. Further, the study revealed that even when companies met the letter of the law, they often failed to disclose to consumers the shortcomings associated with the tests and thus promoted genetic determinism. By failing to meet the spirit of the ASHG transparency recommendations, the DTC genetic testing industry demonstrates disdain toward the ethical principle of informed consent.

Keywords:

• direct-to-consumer
• genetic testing
• ethics

Introduction

Transparency is a crucial issue for companies that market genetic tests directly to consumers for two reasons. First, the nascent industry has been lightly regulated in the United States, leaving consumers to evaluate assertions without the benefit of a Food and Drug Administration (FDA) or comparable agency to screen the validity of those health claims (Department of Health and Human Services 2008, Magnus et al. 2009, Tamir 2010). Second, the significance of any assertions regarding genetic associations is based on probabilities, which are prone to misinterpretation and mischaracterization (Gollust et al. 2002, Lowery et al. 2008). For those and other reasons, the American Society of Human Genetics (ASHG) in 2007 put transparency at the top of its list of recommendations for how direct-to-consumer (DTC) genetic testing companies should regulate their practices (Hudson et al. 2007). The purpose of this study is to determine whether DTC genetic companies follow the society's transparency directives.

The ASHG identified transparency in DTC genetic tests as a tool to facilitate informed consent, an issue of particular importance to consumers and health professionals (Reilly et al. 1997, Wasson 2009). Health professionals and geneticists have long questioned whether an informed choice is possible given concerns about the validity of probabilistic tests for contracting multifactorial diseases or conditions and the potential for harm arising from misinterpreting results (American College of Medicine Genetics 2004, Javitt 2006, American College of Obstetricians and Gynecologists 2008, Farkas and Holland 2009). While acknowledging those concerns, the ASHG offered its recommendations without evaluating whether genetic tests should be sold to consumers. In that spirit, rather than addressing the tests' medical legitimacy, the current study examines the performance of DTC companies offering health-related tests and evaluates whether the industry fosters informed decision-making as prescribed in the ASHG transparency recommendations, especially because DTC genetic companies often assert their raison d'être is to educate and empower consumers (Morgan 2010).

Literature review

Personal genomics poses a distinctive set of ethical challenges because the test kits allow consumers to collect DNA samples at home, and because the Internet enabled the field to blossom before clinical standards could be established. Online entrepreneurs such as 23andMe and CyGene Direct have employed the Internet to sell genetic tests without intervention from medical authorities (Hogarth 2010). In the United States, California and New York have sought to impose regulations on how the tests are conducted, yet little to no oversight has been applied at the federal level (Ng et al. 2009). With few standards in place or regulatory agencies to intervene on behalf of the public, DTC genetic companies in the US have a moral obligation to be transparent about their methods and the limitations of the tests that they offer (Berg and Fryer-Edwards 2007, Evans and Green 2009).

Transparency in the Internet era involves more than a truthful response to questions; it requires companies to actively disclose information and tell the whole truth (Oliver 2004, Bennis et al. 2008). Disclosure is most effective when centered on the needs of the users (Fung et al. 2007). For DTC companies, transparency suggests forthrightness about the potential benefits as well as the shortcomings of genetic tests to predict the likelihood of contracting a condition or disease. Like all businesses, DTC companies may be reluctant to disclose information that could scare away potential customers, especially because many firms are unprofitable and reliant on venture capital (Henderson 2010, Pollack 2010a). However, a caveat emptor approach to health care is ethically unjustified (Mykitiuk 2004, Beauchamp and Childress 2009, Berenson and Cassel 2009).

Disclosure to promote informed decision-making is especially important for genetic tests because they involve nebulous probabilities (Jordens et al. 2009). Unlike diagnostic tests for mutations in monogenic disorders associated with conditions such as Huntington's disease or sickle cell anemia that yield yes/no answers, tests to determine the likelihood of developing a genetically complex disease such as essential hypertension interrogate multiple genes to assess probabilities. Scientists are still determining whether the relative risks associated with contributions from each gene are additive or interactive (Burke and Psaty 2007, Collins 2010). Even when recipients are given more meaningful absolute risks, they struggle to comprehend. Test recipients may be told that they have a 27% risk of contracting type 2 diabetes compared to a population average of 22%, a finding that can confound consumers as well as geneticists (Cameron et al. 2009, Evans and Green 2009, Davies 2010). Although approximately 50% of the risk of contracting type 2 diabetes is inherited, research so far has identified less than 10% of the genetic markers (Collins 2010). Moreover, predictions can vary significantly because companies disagree on which genetic markers to test (Ng et al. 2009, Adeyemo and Rotimi 2010). A 2010 sting conducted by the US Government Accountability Office discovered that DNA from the same person sent to leading DTC genetic testing firms resulted in three different risk assessments (below average, average, above average) for prostate cancer (Kutz 2010). Finally, personal genetic endowment is in general insufficient to predict outcomes for complex diseases. Gene–environment interactions are widely acknowledged as determinants of outcome even as their nature, relative importance and racial/ethnic specificity are poorly understood for the majority of common and complex human diseases (Gravlee et al. 2009).

Determining whether genetic test companies are transparent involves analytical validity, clinical validity and clinical utility. Analytical validity, or whether the genetic code is determined accurately, is largely addressed in the United States by standards set by CLIA, the Clinical Laboratory Improvement Amendments of 1988. Some question whether CLIA standards are sufficient and two states have imposed more stringent requirements (Department of Health and Human Services 2008, Evans and Green 2009). Of greater concern is clinical validity, or whether genetic tests accurately predict the likelihood of contracting a disease or condition (Hunter et al. 2008). To make tests more affordable, companies assess a limited degree of genetic variation by genotyping single nucleotide polymorphisms (SNPs) for which evidence, often conflicting and poorly validated, may suggest that a particular allele is associated with risk. Consequently, they disagree widely on which ones to evaluate. For example, DeCode Genetics looked at 1.2 million SNPs to evaluate 50 medical conditions while 23andMe (until mid-November 2010) scanned less than half as many SNPs to predict three times as many conditions, according to their websites. More important, researchers have only begun to determine which SNPs are associated with diseases and whether the strengths of those associations are sufficient to make valid predictions (Janssens et al. 2008, Caulfield 2009, Kraft and Hunter 2009, Manolio 2010). The “risk alleles” of SNPs are typically associated with odds ratios of less than 1.5, too low to have much value, and “despite substantial progress, the vast majority of heritability remains unexplained” (Altshuler and Daly 2007, p. 814). Even if the predictive power of the tests were stronger, concerns have been raised about their clinical utility, or whether the tests are useful in guiding health decisions (Schwartz 2009). Although physicians see promise in genetic profiling to personalize and shorten trial-and-error dosing for anticoagulants, for example, the recommended response to genetic testing for most ailments is the same that would be made without a test: diet and exercise (Burke and Psaty 2007, Burke et al. 2010, Collins 2010).

In light of concerns about clinical validity and clinical utility, purveyors of genetic tests must avoid genetic determinism, or a tendency to over-attribute causality to personal genetic endowment alone (Lewis 2010). DTC companies have an obligation to be transparent about whether their tests have clinical utility and to disclose, for example, that basing diabetes risk on genotyping without considering family history or weight “is simply misleading” (Evans and Green 2009, p. 569). Companies should indicate not only that the likelihood of contracting a condition is dependent on a complex interaction between genes and the environment, but also that for conditions such as celiac disease, the majority of the genetic contribution has not yet been identified (Ng et al. 2009). Even when relative surety exists, such as for a gene associated with Parkinson's disease, companies should reveal that confirmation has no health value because no preventive action is possible (Williams 2010).

No study evaluating the websites of DTC health-related genetic tests has evaluated compliance with the ASHG transparency recommendations. Williams-Jones (2003) identified a dozen DTC companies for privacy policies and access to genetic counseling. Two studies examining risk disclosure and consultation services discovered that of 14 websites (Gollust et al. 2003) and 13 websites (Berg and Fryer-Edwards 2007), only a few volunteered potential risks to consumers and just three offered assistance from a genetic counselor. Liu and Pearson (2008) found approximately half of the 63 websites studied offered inheritance patterns and probabilities and that the most common emotional appeals used were warmth and empowerment. An examination of 27 websites, with a focus on thrombosis, found low adherence to professional recommendations, scant information about the risks and benefits of testing, and little guidance about who should be tested for thrombosis (Goddard et al. 2008). Geransar and Einsiedel (2008) looked at the type of information 24 websites offered to consumers and whether the companies required physician involvement or offered genetic counseling. A follow-up paper considered how those websites framed risk and communicated trust, concluding that the companies emphasized genetics as an explanation for risk and claimed expertise to enhance credibility (Einsiedel and Geransar 2009).

The proliferation of DTC companies, combined with a July 2006 investigation by the Government Accountability Office accusing companies of misleading consumers (Kutz 2006), led the board of the American Society of Human Genetics in January 2007 to establish governing principles in three categories: transparency, provider education, and test and laboratory quality. The transparency recommendations called on the companies to “provide all relevant information about offered tests in a readily accessible and understandable manner,” and offered six specifics (Hudson et al. 2007, p. 636):

1.	Disclose the sensitivity, specificity, and predictive value of the test, and the populations for which this information is known.
2.	Disclose the strength of scientific evidence on which any claims of benefit are based, as well as any limitations to the claimed benefits. For example, if a disease or condition may be caused by many factors, including the presence of a particular genetic variant, the company should disclose that other factors may cause the condition and that absence of the variant does not mean the patient is not at risk for the disease.
3.	Disclose all risks associated with testing, including psychological risks and risks to family members.
4.	Disclose the CLIA certification status of the laboratory performing the genetic testing.
5.	Maintain the privacy of all genetic information and disclose their privacy policies, including whether they comply with HIPAA (Health Insurance Portability and Accountability Act of 1996).
6.	If making any lifestyle, nutritional, pharmacologic, or other treatment recommendations, disclose the clinical evidence for and against the efficacy of any such interventions.

The study involves a single research question: How well do the DTC genetic companies meet the six ASHG transparency standards?

Method

The Genetics and Public Policy Center at Johns Hopkins University advances understanding of personal genomics and public policy. Part of its work involves tracking DTC genetic companies that invite consumers to order a test without the intervention of a healthcare provider. The list excludes companies such as Myriad that market to consumers but require a physician to order the test (Scott 2010). A list of DTC companies dated 28 May 2010 from the Genetics & Public Policy Center (2010) was used for this study.

Six of the 31 companies on the Center's list were removed because they did not fit the study's focus of websites offering health-related genetic tests directly to consumers through the Internet. DNA Plus, Nimble Diagnostics and Prenatal Genetics Center were eliminated because they offered only paternity tests. DNA Dimensions was dropped because its services, which mostly involve paternity and drug tests, are available only by visiting a storefront location in metropolitan Detroit. Two other companies were unavailable when the research was conducted in June, July and August 2010. Examination of DNA Traits began in June but before it could be completed, the company went out of business. Knome, which offers complete sequencing of the genome instead of the subset other companies provide, offered an inoperable consumer link on its home page in June, removed it a few weeks later and restricted its services to researchers. That left 25 DTC companies offering health-related tests for purchase online.

A content analysis code sheet was developed to probe the company websites for the presence or absence of sometimes hard-to-find information. To increase validity, three coders independently examined each of the 25 websites and then met to resolve any disagreements on every variable. Although unanimity does not guarantee accuracy – all three researchers could have overlooked the same information – the resulting data have stronger reliability than if one person had coded each website.

Midway through the study, two events occurred in 2010 in Washington, DC, that shook the DTC genetic test industry. In response to an announcement (later rescinded) that Pathway Genomics would distribute its buccal swab kit through retail drugstores, the FDA on 10 June sent letters to Pathway and four other companies announcing that the agency now considered genetic tests to be medical devices under its regulatory purview (Pollack 2010b). The FDA sent similar letters to nine more companies on 19 July, concurrent with two days of meetings to solicit public input on its intent to regulate genetic tests (Vorhaus 2010). The second event occurred on 22 July, when a Congressional committee discussed a new GAO investigation that concluded DTC genetic companies offered conflicting test results and counselors misled undercover investigators over the telephone (Kutz 2010). Portions of those taped conversations were played at the hearing and posted online, and representatives of the four companies scrutinized (23andMe, DeCode Genetics, Navigenics and Pathway Genomics) testified (Darcé 2010).

Within three months, six of the 25 firms had stopped offering genetic tests directly to consumers. BioMarker Pharmaceuticals and New Hope Medical discontinued doing business online as genetic testing companies, Consumer Genetics withdrew its three health-related genetic tests, DNA Direct shifted its sales focus from consumers to healthcare providers, and Navigenics and Pathway no longer sent collection kits to consumers. However, the data collected on the websites of those six firms were retained for this study to maintain a snapshot-in-time assessment of an industry that has been in flux, as Einsiedel and Geransar (2009) documented, and which could continue to change as the FDA promulgates regulations while US government and venture capital funding pursues a $1000 whole-genome sequencing that could supplant today's DTC tests (Alpert 2008, Ricketts 2009, Angrist 2010, Collins 2010, Davies 2010).

Results

Table 1 summarizes the evaluation of the 25 companies' websites for compliance with the ASHG transparency standards and creates an overall compliance score. Because the ASHG is an American society, and its transparency standards reference only US laws, the websites were not evaluated for compliance with the regulations of other nations.

Table 1. Transparency recommendations met.

Company	S1: Predictive value	S1: Population base	S2: Evidence	S2: Limitations	S2: False positives	S2: False negatives	S3: Health risk	S4: CLIA	S5: Privacy policy	S5: HIPAA	S5: Privacy protected	S6: Recommendations	Transparency score
23andMe (U.S.)	X	X	X	X	X	X	X	X	X		X	X	92%
Atlas Sports Genetics (US)			X						X				17%
BioMarker Pharmaceuticals (US)	X	X			X				X	X		X	50%
Consumer Genetics (US)			X						X			X	25%
CyGene Direct (US)		X		X	X			X	X	X	X	X	67%
DeCode Genetics (Iceland)	X	X	X	X	X	X		X	X	X	X	X	92%
DNA Cardiocheck (US)													0%
DNA Direct (US)	X			X		X	X	X	X	X	X	X	75%
Easy DNA (US)	X	X		X	X				X				42%
Enterolab (US)								X				X	17%
Genelex (US)	X		X					X	X			X	42%
Gene Planet (Ireland)		X	X	X					X		X	X	60%
Genetic Testing Laboratories (US)	X	X		X	X			X	X				50%
Genomic Express (US)			X	X					X	X		X	42%
Graceful Earth (US)								X					8%
Health Check USA (US)									X	X		X	25%
Inherent Health (US)	X		X	X	X			X	X	X	X	X	75%
Inneova (Canada)							X	X	X				27%
Matrix Genomics (US)	X	X	X	X	X	X		X	X		X	X	83%
MediChecks (England)				X	X	X			X			X	50%
My Gene Profile (US)								X	X				17%
Navigenics (US)	X	X	X	X	X	X	X	X	X	X		X	92%
New Hope Medical (US)									X				8%
Paragon Genetics (Canada)													0%
Pathway Genomics (US)					X			X	X	X	X		42%
Transparency score	40%	36%	40%	48%	44%	24%	16%	64%	84%	43%	32%	60%	44%
Notes: Transparency scores include only US companies for calculations regarding CLIA and HIPAA, which are US-specific laws, unless non-US companies volunteered that they complied. An “X” indicates compliance with the expectation(s) articulated in each ASHG standard (S1, S2, etc.).

1 Predictive value

The first set of standards involved fundamental issues about genetic tests, including their sensitivity, specificity, and predictive value, which in turn involve elements of analytic validity and clinical validity. Just 11 of the 25 websites made even a passing reference to accuracy, and six of those said only that their labs met CLIA standards. Five companies made claims about the accuracy of their genetic tests, two of which cited numbers: 99.8% for My Gene Profile and 99.9% for 23andMe. Easy DNA said its tests were accurate because samples were processed twice, Navigenics reported it relied on “extensive laboratory validation” to ensure accuracy and Pathway simply asserted that its “genetic reports are accurate.” None of the companies, however, explained that even 99.9% accuracy could result in an average of 500 errors in a scan of a half million SNPs.

Regarding the more important issue of clinical validity, DTC companies offered abundant information but little insight. Seventeen offered at least five paragraphs of explanation on each disease or condition as well as information about its prevalence. Yet while 21 of the sites listed the genetic markers tested for a majority of the diseases or conditions tested, only 10 offered any information about the predictive value of those markers. Moreover, each of those 10 companies listed the risk associated with each marker without explanation. Companies that described a risk factor of, say, 1.19, associated with an allele did not tell customers what that risk factor meant. Further, not a single company informed customers that aside from rare single-gene conditions, the SNPs used in their tests predict only a fraction of total heritability. In other words, the 10 companies that provided details about the specificity and predictive value of the tests offered a veneer of scientific-sounding information without revealing whether the marker-level data were statistically significant.

A similar pattern emerged when evaluating whether the companies explained in plain language that relative risk has to be compared against a base population. Only nine of the 25 companies referenced a population base. Three indicated the comparison was based on ethnicity, three cited the HapMap database and three listed other comparisons. Yet no company was explicit in reporting that because most genomic studies have involved people of European descent, the results may be of less value to those with different ancestry because of the wide variation of genetic markers across diverse populations, as Adeyemo and Rotimi (2010) noted.

2 Evidence and limitations

The second standard asked whether companies disclosed the strengths and limitations of the evidence supporting claimed benefits, and by implication, the potential for false positives and false negatives. Just 10 of the 25 companies offered any supporting scientific evidence for claims, which usually consisted of citations for published studies. Only four indicated that they required published findings of genetic associations be independently replicated as a criterion for inclusion in the panel of genetic tests they offered. To determine whether companies offered any limitations on the evidence, websites were examined for disclosure of ambiguity, such as that scientists were still looking for causes or that other factors besides genetics could be important. Twelve companies offered such language, at least minimally.

Eleven of the 25 companies cautioned that genes are not the sole predictors of most diseases or conditions, or warned against interpreting an above-average likelihood as certainty of contracting a disease or condition. However, those companies varied widely in how they broached genetic determinism and false positives. For example, Gene Planet noted in a sample report that less than 25% of the risk for hypertension can be attributed to genetics. Other companies were less forthcoming. Several firms buried in legalistic documents disclaimers that tests could not offer definitive answers. For instance, Navigenics touted on its home page that genes are “a smart way to look at your health,” then banished to an informed-consent document an acknowledgement that “your results will not tell you whether you currently have or will definitely develop any of the conditions included in the service.” Genomic Express referenced the role of non-genetic factors more prominently but erroneously added that “we now know that an individual's health (is) … greatly affected, and in some cases determined, by their own unique genetic profile.” 23andMe was only slightly less deterministic in its boilerplate language in its “detailed” diseases reports, listing genetics first while noting that lifestyle and environmental factors “may also” play a role in contracting a multifactorial disease or condition. Even fewer companies, six, offered any language to prevent consumers from mistaking a below-average risk report as an indication they will not develop the disease or condition, and such warnings were typically in the fine print. For example, 23andMe tucked a single sentence warning against a false negative into its 8869-word terms of service document.

Overall, fewer than half the companies complied with the ASHG's second transparency recommendation in any way. But those that did stood out in comparison to My Gene Profile, which used genetic determinism as a hard-sell pitch. When potential customers clicked on the firm's disease susceptibility test, a “Dr. John Sebastian” implored readers to “stop risking your life” and discover whether they are “cursed with bad genes” that could cause loss of “a limb, your mobility or even death.” He declared that “current treatments for cancer are ineffective” and “your likelihood of survival is slim” unless the company's gene test was purchased. The company's other offering, the “Inborn Talent Genetic Test,” featured a “Dr. James Thorson” promising “breakthrough biotechnology” that will enable parents to know if “your child could be the next Einstein, the next Bill Gates or the next Tiger Woods.” Parents were told that the test would reveal “hidden talents” and “personality traits.” If those promises were not persuasive enough to merit the $1397 fee, parents were urged to consider the cost of having “a child with extremely low self-esteem” who would lead “a horrible life when he/she grows up.”

3 Risks

Only four of the 25 companies even hinted at a potential risk in obtaining results to genetic tests. Inneova was vague in urging customers to consider “the possible far-reaching implications” the genetic information may hold for themselves and relatives. DNA Direct said its tests could cause problems for people who “have a personal history of depression or anxiety.” 23andMe said customers should realize that test results may offer unwelcome information that “may evoke strong emotions and has the potential to alter your life and worldview.” Navigenics said customers “experience a variety of emotion” and that people with anxiety, depression or similar disorders should consult with a healthcare professional before getting tested.

4 CLIA certification

Fourteen of the 25 companies revealed the CLIA certification status of the laboratory performing the tests, including two international companies that would not be bound by the US regulation unless they contracted with a US-based laboratory. (DeCode has its own lab in Iceland and would be exempt; the other, Inneova of Canada, did not indicate what labs it uses.) Twenty of the 25 firms studied had US offices, and 12 of those 20 claimed CLIA certification.

5 Privacy

The fifth standard involved protecting the privacy of genetic information collected, disclosure of privacy policies and compliance with HIPAA, a US law governing confidentiality of medical information. Just eight of the 20 US firms referenced HIPAA, as did DeCode of Iceland. However, that finding may reflect the fact that many DTC genetic companies have carefully avoided calling their tests diagnostic or medical in a bid to block regulatory oversight, including HIPAA provisions (McGuire and Burke 2008, Lewis 2010).

Companies were more willing to provide privacy policies and assure potential customers their data would be treated confidentially. This ASHG recommendation received the widest compliance, with 21 of 25 companies offering their privacy policies online. However, the recommendation calls for more than merely having policies; it also calls for companies to keep customers' genetic information private.

A year after the ASHG recommendations were offered, the US Congress passed the Genetic Information Nondiscrimination Act of 2008, which indirectly addressed privacy by prohibiting health insurers and employers from making decisions based on private genetic tests. Before the passage of GINA, some people were reluctant to get genomic tests or obtained them under assumed names so the results would not appear in their medical records (Lewis 2010). Although GINA benefits companies that sell genetic tests to consumers by giving an impression of confidentiality, only five of the 20 US companies mentioned it, as did Iceland's DeCode Genetics. To their credit, four of the five (23andMe, Inherent Health, Matrix Genomics and Navigenics) also noted that GINA's privacy protections do not apply to other forms of insurance. GINA does not cover life, long-term care or disability insurance, and companies offering those policies may require divulging knowledge of genetic predispositions that could affect insurability or rates (Department of Health and Human Services 2009). The fifth company, Pathway Genomics, referenced GINA protections twice but did not caution customers that its privacy protections only apply to health insurance.

Beyond GINA and HIPAA, company policies were examined for three elements inherent in the ASHG exhortation to protect the privacy of genetic information, based in part on concerns cited by Williams-Jones (2003). First, companies should indicate that private data are secure, both in encrypting information exchanged through the Internet (usually through secure sockets layer, or SSL, protocols) and in the use of firewalls or similar measures to protect patient data that may be stored on servers accessible through the Internet. Second, companies should ensure that personal identifying information is removed from genetic samples that are seen by laboratory personnel conducting genetic tests. Third, companies should reveal that they will not share individual-level data with third parties aside from those required to complete transactions (such as credit card companies) unless customers consent or a legal system requires. If companies indicated that they complied with all three of those privacy elements, they met a privacy protection standard. Only eight of the 25 companies met the standard.

6 Treatment recommendations

The 2007 ASHG standard calling for disclosure of the efficacy of any lifestyle, treatment and pharmacologic remedies came against a backdrop of a 2006 investigation for the US Congress that found some Web-based companies were selling “customized” nutritional supplements that were 34 times more expensive than grocery-store vitamins with similar ingredients (Kutz 2006). The investigation apparently was effective, for none of the 25 companies examined sold nutritional supplements and only a few claimed pharmacologic benefits.

More significant are lifestyle recommendations, which raise the larger question of clinical utility. Fifteen of the 25 companies offered treatment recommendations associated with diseases or conditions. Those recommendations, however, usually involved routine guidance regarding diet and exercise. A few recommendations were disease-specific but hardly surprising: those with a chance of getting celiac disease were urged to avoid gluten; individuals with a predisposition to colon cancer were advised to get a colonoscopy; and adults with a greater likelihood of glaucoma were told to get their eyes examined. In short, while 60% of the companies met this recommendation for disclosure, there was little to disclose except for well-established preventive screening recommendations or avoidance of exposures known to exacerbate a specific condition.

Discussion

In detail and in tone, the largely self-regulated DTC genetic testing industry flunked the ASHG standards for disclosing to consumers pertinent information about the validity and limitations of health-related tests. Overall, the transparency standards were met only 44% of the time. Just six of the 25 companies met 70% or more of the recommendations, or just enough for a grade of C.

Such scoring is generous when considering two factors. First, the issues addressed by the standards do not hold equal weight. Disclosing information about the predictive value of the tests is at the heart of personal genomics and overwhelms lesser concerns such as disclosing potential emotional risks or citing CLIA, which is more a marketing tool than a transparency standard. Second, even when companies met the letter of the law they often failed to meet the spirit. Although 10 companies offered information about the predictive value of the genetic markers chosen, not a single one was transparent about how little those predictions usually mattered. Similarly, while a majority of companies offered treatment recommendations, none disclosed that customers were unlikely to get recommendations that were not already obvious.

The three companies that met at least 90% of the transparency standards – 23andMe, DeCode Genetics and Navigenics – take their mission seriously and are unlike competitors such as My Gene Profile that claim they can find talent hidden in children's genes. But the core concern behind the ASHG transparency recommendations is not whether a few bad apples are spoiling the barrel – it is whether DTC gene-testing companies are fully transparent about what is in the barrel. By that measure, every company studied shortchanged customers.

Transparency involves more than determining whether pertinent information was disclosed. In some cases, companies provided just enough data to comply, such as offering citations for published studies as supporting “evidence,” despite knowing that customers would likely be unable to find, let alone interpret, the papers. Yet such disclosure is preferable to the inaccurate information disseminated through some websites. For example, asserting that environmental and lifestyle factors “may also” play a role in contracting a disease or condition implicitly promotes genetic determinism. Misleading disclosures can be at least as harmful as withholding information.

Legitimate questions can be raised about whether these transparency standards can be met or whether informed consent is a realistic objective. Offering details about each allele would only overwhelm consumers rather than enable better decisions. In nations that offer national health care and are less reluctant to regulate fledgling industries, the state assumes much of the burden for evaluating the validity and utility of probabilistic genetic testing. In the US, with its individualistic culture and embrace of private health care, personal choice trumps an informed choice. Thus, research is needed into what types of transparency would benefit consumers, especially in a field most know little about. At a time when the average prescription medicine bottle lists 70 side effects (Duke et al. 2011), consumers need information that can promote understanding, not merely more disclosure. Also, international studies could transcend the US-centric focus of the ASHG standards. Such studies could help define informed consent in a genetic context and evaluate the efficacy of various approaches across national borders to meeting the principles undergirding the transparency standards.

Regardless of the industry's disclaimers, genetic tests to predict the likelihood of developing diseases or conditions involve personal health. These DTC companies are obliged to disclose all relevant information because consumers' superficial knowledge of genetics leaves them vulnerable to misleading claims about the health benefits of a DNA test. By failing to meet either the letter or the spirit of the ASHG transparency recommendations, the DTC genetic testing industry shows it is more interested in promoting sales than informed choices.