Challenges and Regulation of Direct to Consumer Testing
Gail Javitt and Joan Scott
INTRODUCTIONFor about a decade, direct-to-consumer (DTC) genetic testing has been the topic of much adulation (Hamilton, 2008), con-sternation (Offit, 2008), and speculation (Gollust et al., 2002; Williams-Jones, 2003). Harnessing the power of the Internet and the wealth of new genetic research data, and fueled by entrepreneurial vendors and consumer interest in self-medi-ated healthcare, numerous companies have launched health-related DTC genetic testing services since the beginning of the 21st century (Hogarth et al., 2008).
DTC companies offer consumers direct access to genetic testing. Many different groups, including geneticists, ethi-cists, and consumer advocates, have argued that genetic test-ing should be available only through a healthcare provider and after appropriate counseling [American College of Medical Genetics, 2008; Gollust et al., 2002, 2003; Hudson et al., 2007; Javitt et al., 2004; Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS), 2008; United States Government Accountability Office (GAO), 2006; Wolfberg, 2006].
Conversely, advocates of DTC testing contend that it enables greater consumer awareness of and access to test-ing, which in turn can empower consumers to improve their health (Colliver, 2007; SACGHS 2010). There is limited evi-dence regarding consumer attitudes toward DTC testing or the impact of DTC testing on consumers who have used these services.
DTC genetic testing historically has been largely unregu-lated. Thus, DTC companies have faced few barriers to mar-ket entry, and few governmental mechanisms have been employed to ensure that laboratories reliably obtain the cor-rect result (i.e., that they are analytically valid) or that the tests they perform accurately predict phenotype (i.e., that they are clinically valid). However, in mid-2010 the Food and Drug Administration (FDA) signaled its intent to step into the regula-tory vacuum when it sent letters to a number of DTC compa-nies informing them that the tests they offered were medical devices subject to FDA regulation (FDA, 2010). Although the exact contours of the FDA’s planned regulatory approach are not yet clear, the agency’s action is likely to increase regulatory requirements and may result in some DTC companies leaving and in fewer new entrants to the market.
This chapter describes the current landscape for DTC test-ing and the potential risks and benefits posed by this method of test delivery. It reviews the results of empirical studies regarding consumer and provider awareness of and attitudes toward DTC tests. Finally, it describes federal regulation of DTC testing and the prospects for increased regulation.
THE MEANING OF “DTC”The term “direct-to-consumer” historically was used to refer to both consumer-directed advertising and consumer-directed
434 CHAPTER 38 n Challenges and Regulation of Direct to Consumer Testing
sale of tests. Direct advertising of BRCA testing to predict risk for hereditary breast and ovarian cancer by Myriad Genetics constitutes perhaps the best known example of direct adver-tising of genetic testing. In 2002, Myriad launched a pilot advertising campaign for its BRACAnalysis® test in two US cit-ies (Marcus, 2003; Pearson, 2003). The company used sev-eral media to “alert women with a family history of cancer to recent advances in cancer prevention and early disease detec-tion” (Myriad Genetics Inc., 2002). The campaign encouraged women to consult their physicians about the genetic test.
As DTC testing has evolved, the term “DTC” has become synonymous with consumer-initiated purchase of tests and direct delivery of test results to the consumer, without the need for authorization by the consumer’s healthcare provider. In some cases, to meet legal requirements, the test may be “ordered” by a company-affiliated healthcare provider, but this provider does not establish a doctor–patient relationship with the consumer. Some DTC companies both perform the labora-tory analysis and provide the results and interpretation, while others send the samples out to third-party laboratories for analysis.
The number of companies and the variety of tests offered have grown since DTC genetic testing was first described, but there has been considerable volatility in the market. In 2002, Gollust and co-workers (2003) identified seven websites offer-ing health-related DTC genetic testing for seven conditions. Of the seven, only one company is still offering DTC testing. A similar 2009 Internet review identified 29 health-related web-sites offering a wide variety of tests (Lachance et al., 2010).
Earlier DTC companies focused on testing specific muta-tions within a single gene (e.g., BRCA, Factor V Leiden), but newer entrants offer “personal genome services” that provide risk assessments for a wide variety of conditions and traits based on analysis of broad panels of single nucleotide poly-morphisms (SNPs). With the cost of whole-genome sequenc-ing rapidly dropping, it will not be surprising to see companies shift from providing SNP analysis to whole-genome sequenc-ing data for customers.
RISKS AND BENEFITSTraditionally, information about one’s genetic makeup has been obtained through a clinical genetics encounter with a trained healthcare provider – typically a medical geneticist, genetic counselor, or trained healthcare specialist – during which the provider obtains a comprehensive family and medi-cal history, ascertains the likelihood of a genetic condition and the availability of an appropriate genetic test, counsels the cli-ent about the benefits, risks, limitations, and potential implica-tions of the test, and provides expert interpretation of the test results and guidance about actions to take as a consequence (American College of Medical Genetics, 2008). The ability of a consumer to obtain health-related genetic information out-side this context challenges this longstanding tenet of clinical
genetics and therefore has raised numerous concerns. Table 38.1 lists some of the risks and benefits of DTC testing.
Critics argue that DTC testing leaves consumers vulner-able to inappropriate test selection and deceptive or mis-leading claims about test validity and utility. They worry that consumers will experience increased anxiety, seek needless medical interventions based on erroneous or misinterpreted results, or fail to take preventive measures based on false reassurance that they are at low risk. Some have raised par-ticular concern about DTC testing of children (Tabor and Kelley, 2009) as the impact of genetic testing in children is not well understood (Wade et al., 2010), and about the potential for stigma if the privacy of results is not adequately maintained. Some companies offering personal genome services are also using customer DNA samples to develop large-scale biobanks for research purposes and invite their customers to partici-pate in such research. Some people have questioned whether these companies are making their intentions explicit or appro-priately obtaining informed consent from their customers for research use of their DNA (Goetz, 2007).
Proponents of DTC testing argue that it is a means to increase consumer access to genetic tests and to empower consumers to make independent medical decisions, as well as an opportunity to educate consumers about their own health risks and the steps they can take to mitigate those risks. They also argue that DTC testing responds to unmet consumer demand for testing. Furthermore, these proponents argue that it would be paternalistic to prevent individuals from accessing information about their genomes (Human Genetics Commission, 2003). Unfortunately, there is relatively little empirical data to support or refute the claims of opponents or proponents of DTC testing.
CONSUMER IMPACTAwareness and Uptake of DTC TestingUnderstanding the level of consumer awareness and interest in testing, who seeks testing and why, and what consumers do with the results would be useful in considering the need for
T a b l e 3 8 . 1 Risks and benefits of DTC testing
Benefits Risks
Increased consumer access Potential for inappropriate test selection
Empowers consumers to make health changes
Claims may mislead consumers
Opportunity for consumer education
Potential for test misinterpretation and harmful actions (or failure to act) as a result
Responds to unmet consumer demand for testing
Potential for inappropriate testing of children
Consumer Impact n 435
and appropriate tailoring of policy responses. Relatively little is known, however, about consumer awareness and uptake of DTC genetic tests.
Critics of Myriad’s pilot advertising campaign expressed concern that the campaign would lead to inappropriate test provision and needless anxiety among women viewing the commercials. An evaluation of the campaign, however, did not reveal negative psychological impact on patients as a result of the ads (Mouchawar et al., 2005). Further, although the refer-ral rate for genetic counseling services among low-risk women increased in the pilot cities (Mouchawar et al., 2005), as did the number of tests ordered (Centers for Disease Control and Prevention, 2004), in at least one of the cities the data did not show an increase in testing in women with low pre-test prob-ability of a mutation, suggesting that low-risk women were not more demanding of testing after receiving counseling (Mouchawar et al., 2005).
A 2006 study by Goddard and co-workers (Goddard et al., 2007) assessed consumer and physician awareness of nutri-genomic tests and consumer use of such tests via two national surveys. They found that 14% of consumers were aware of nutrigenomic tests but only 0.6% had used these tests. Consumers who were aware of the tests tended to be young and educated, with a high income. A greater percentage of physicians (44%) were aware of nutrigenomic tests compared with the average consumer, although 41% of these physicians had never had a patient ask about such tests, and the majority (74%) had never discussed the results of a nutrigenomic test with a patient.
A follow-up survey in 2008 (Kolor et al., 2009) showed that although healthcare provider awareness of personal genomic tests (defined as genetic tests marketed directly to consumers that scan a person’s entire genetic makeup for potential health risks) had not increased, consumer aware-ness had risen 22%. In the survey, predictors of consumer awareness included older age, female gender, racial or ethnic group other than Black or Hispanic, and higher education and income. Uptake was still low, however – only 0.3% of consum-ers had used these tests; two-thirds of these had shared the result with a health provider.
An online survey of social networkers in April 2008 also demonstrated low uptake of DTC personal genome testing (6%), but 64% said they would consider it (McGuire et al., 2009).
Useful data about the psychological and behavioral fac-tors that motivate individuals to seek personal genomics information in a non-DTC context was obtained through the Multiplex Initiative. Launched in 2006, this preclinical, mul-ticenter, prospective observational study recruited individu-als 25–40 years of age who were enrolled in the Henry Ford Health System. Participants completed a baseline survey and reviewed a website that provided information about a free multiplex genetic susceptibility test that included 15 genetic variants for eight conditions (type 2 diabetes; lung, colon, and skin cancers; coronary heart disease; hypercholesterolemia;
hypertension; and osteoporosis). Participants were asked to complete three online assessments and were asked whether they were interested in testing. Interested participants were asked to schedule a clinic visit, during which they received information about the pros and cons of testing, signed an informed consent form, and provided a blood sample. Of 1930 people invited to visit the website, only 612 did, and 266 con-sented for testing. Frequent users of the Internet, those who believed genetic information to be valuable, those who were confident they could understand such information, those who believed it to be important to learn about genetics, and those who reported the most health habits to change were most likely to get tested (McBride et al., 2009). Men and African Americans were less like to visit the website, and African Americans were less likely to be tested (Alford et al., 2011).
A 2010 survey of 1047 US customers of three DTC com-panies (23andMe, deCode Genetics, and Navigenics) provides the most direct assessment of DTC consumers. The study, which surveyed consumers 2–7 months after they received test results, showed that consumers tended to be white, highly educated, with high income levels, and to be heavy Internet users. A total of 87% were white non-Hispanics, 26% had a bachelor’s degree, 54% had a post-graduate degree, and 67% had household incomes of more than $85,000. Median Internet usage for purposes unrelated to work was 15 hours per week, and 90% agreed (53%) or strongly agreed (37%) that use of the Internet improved their ability to manage their healthcare needs. The top reasons given for using DTC testing were to satisfy curiosity (94%), and to learn about elevated risk of diseases (91%). A total of 58% said they learned some-thing new about their health, but only 28% had shared results with a healthcare provider; another 18% said they intended to do so. One-third were being more careful about their diet, 14% were exercising more, and 16% had changed their medi-cation or supplement regimen as a result of their test results. Although 88% agreed the risk report they received was easy to understand, 38% thought the conclusions were too vague (Kaufman et al., 2010).
Bloss and colleagues (2011) reported on 2037 sub-jects recruited from Scripps Health patients, employees, and employee family members, and from nearby technology companies who elected to purchase the Navigenics Health Compass Test at a discounted rated. A total of 82% were Caucasian, 1.2% African American, 6.4% Asian, 5.6% Hispanic/Latino, and 5.1% other. Just over half (55%) were female; 44.7% were male. More than half (56%) had incomes between $100,000 and $299,000, and 13.9% had incomes $300,000 and above. A total of 25% had graduated from college, 37.7% had a master’s degree or some post-graduate education, and 17.2% had a professional degree or Ph.D. A three-month follow-up showed that testing did not result in measurable short-term changes in psychological health or test-related distress nor in the use of screening tests. However, there was also no change in dietary fat intake or exercise behav-ior. Ten percent discussed their result with a Navigenics
436 CHAPTER 38 n Challenges and Regulation of Direct to Consumer Testing
board-certified genetic counselor and 26.5% with their physician.
Quality of Information on WebsitesStudies evaluating the content of DTC websites have found considerable variability in how well DTC companies inform potential customers about the benefits, risks, and limita-tions of testing (Berg and Freyer-Edwards, 2008; Geransar and Einseidel, 2008; Goddard et al., 2009; Hennen et al., 2010). Given that the website is the primary vehicle of communication with the consumer, information needed to make informed test-ing decisions should be accurate, easy to find, and presented in a way that provides a balanced view of the risks and benefits of testing. However, reviewers of websites have found that infor-mation needed to make informed choices is frequently missing or hard to find, buried in lower-level web pages, or located in lengthy PDF files that require a much higher reading level than that of the average US adult (Lachance et al., 2010). Benefits are often emphasized over potential limitations or harms, and many policy practices, such as privacy practices or what the company will do with the customer’s DNA sample, are not clearly stated. Understanding a positive or negative result in the context of an individual’s overall medical and family his-tory is also critical in order to make informed decisions about appropriate follow up. Although some companies offer access to genetic counseling, the services are not mandatory, and the information presented on the website may be insufficient to guide the consumer.
Validity and Value of the Tests Being OfferedSome experts have questioned the clinical validity and util-ity of particular DTC tests (Janssens et al., 2008; Khoury et al., 2009), particularly those tests that assess variants for common, complex diseases. The variants being tested for are often asso-ciated with modest odds ratios at best, and testing for these variants provides information about only one aspect of a per-son’s overall risk. Many of the disorders being tested for are the result of complex interactions among multiple genetic vari-ants, behavior, lifestyle, and environmental factors. Without a more complete assessment, the consumer may be getting only one small piece of the puzzle. For example, in 2009 Mihaescu assessed risk for type 2 diabetes using the TCF7L2 variant. Adding 18 variants resulted in 34% of participants changing risk categories, and adding age, sex, and BMI resulted in 29% changing risk. Altogether, 39% of the participants changed risk categories once and 11% twice by adding additional risk factors into the calculation (Mihaescu et al., 2009).
Adding to the confusion, companies may offer predic-tive testing for the same conditions but include different vari-ants in the test panel, leading to different risk calculations depending upon which company a consumer uses. Ng com-pared the results from two DTC companies on thirteen dis-eases for five individuals. For seven of the diseases, 50% or less of the predictions agreed between the companies across
the five individuals (Ng et al., 2009). To assess how risk vari-ance could occur, Swan evaluated the variants offered by five companies for 213 different conditions. Nine of the conditions were offered by all five companies; fifteen additional condi-tions were offered by four of the five companies. Different risk assignment was the result of three factors. The average life-time risk values assigned to the same underlying population differed, the selection of variants offered for the same condi-tion varied significantly, and the quantitative risk assignment methodologies used by the companies differed (Swan, 2010).
FEDERAL OVERSIGHT OF DTC TESTINGClinical laboratories that perform health-related genetic test-ing are regulated by the Centers for Medicare and Medicaid Services (CMS), which administers the Clinical Laboratory Improvement Amendments of 1988 (CLIA). CLIA applies to all clinical laboratories that operate or provide testing services in the United States. The statute defines a clinical laboratory as a:
facility for the … examination of materials derived from the human body for the purpose of providing informa-tion for the diagnosis, prevention, or treatment of any disease or impairment of, or the assessment of the health of, human beings.
CLIA, Public Law 100–578, codified at US Code 42, §263a, 1988.
The statute prohibits the solicitation or acceptance of “materials derived from the human body for laboratory exami-nation or other procedure” unless CMS or a CMS-authorized entity issues a certificate to the laboratory.
CLIA provides limited assurance about the analytical validity of genetic tests [Federal Register, 2006; Holtzman and Watson, 1997; Hudson et al., 2006; Secretary’s Advisory Committee on Genetic Testing (SACGT), 2000; Smith, 2007]. Moreover, CMS certification does not include an evaluation of the clinical validity of tests, and relies on the laboratory direc-tor to determine whether introduction of a new test is clinically appropriate. Finally, CMS does not regulate DTC companies that provide only post-analytic, interpretive services to consumers.
The Federal Trade Commission (FTC) Act prohibits the dissemination of false advertisements, which are defined as advertising that is “misleading in a material respect” (FTC Act 15 USC §§ 41–58). If a DTC company makes an inadequately supported claim about its tests, the FTC could sanction them. So far, the FTC has not pursued enforcement action against any DTC companies. The agency did, however, issue a consumer alert warning the public to be wary of the claims made by some companies, and advising that some results have mean-ing only in the context of a full medical evaluation (Federal Trade Commission, 2007). The agency also initiated investiga-tions into a few companies that offered nutrigenomic testing, but these companies either went out of business or stopped offering the test, therefore no further action was taken by the Commission (Federal Trade Commission, 2009a, b).
References n 437
The FDA has historically played a limited role in genetic test oversight. Under its medical device authority, it regulates certain components used by clinical laboratories to perform testing, including general purpose reagents, analyte spe-cific reagents, and test kits (also termed test systems) (Javitt, 2007). A medical device is defined as:
an instrument, apparatus, implement, machine, contriv-ance, implant, in vitro reagent … [that is] intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease … [but that] does not achieve its primary intended pur-poses through chemical action within or on the body.
United States Code, Title 21 Section 321(h)(3).
In vitro diagnostics are defined more specifically as:
reagents, instruments, and systems intended for use in the diagnosis of disease or other conditions, including a determination of the state of health, in order to cure, mitigate, treat, or prevent disease or its sequelae. Such products are intended for use in the collection, prepa-ration, and examination of specimens taken from the human body.
Code of Federal Regulations, Title 21 Section 809.3(h).
Test kits, which comprise reagents, instructions for use, and specific analytical and/or clinical claims, must undergo successful premarket review before they can be commercially distributed. The amount and type of evidence that the FDA requires depends on the intended use of the test kit.
The majority of genetic tests, including those offered DTC, are not performed using test kits but are developed in-house by clinical laboratories. These laboratory-developed tests (LDTs) use purchased individual components and/or compo-nents the laboratories make themselves. The FDA considers LDTs to be medical devices within the scope of the agency’s regulatory authority, but has historically exercised “enforce-ment discretion” with respect to most LDTs, meaning that, with few exceptions (FDA, 2007) the agency has not generally reviewed LDTs before they are marketed (Javitt, 2007). Calls for greater oversight of LDTs have come from several quarters (Genentech, 2008; Genetics and Public Policy Center, 2008;
SACGT, 2000; SACGHS, 2008), although others have opposed FDA regulation of LDTs (Washington Legal Foundation, 2006).
In the summer of 2010, the FDA sent letters to more than a dozen companies that either offer DTC testing or provide the testing platforms for DTC companies (FDA, 2010). The letters informed the companies that their tests were medical devices requiring agency review prior to marketing. It therefore appears that the FDA will no longer exercise enforcement discretion with respect to genetic tests offered DTC. However, it is unclear what data submission or other requirements the agency will impose on the companies that have received letters. It is foreseeable that increased oversight of DTC testing companies by the FDA could deter companies from offering tests DTC.
Several bills have been introduced in the US Congress to strengthen oversight of LDTs, including those offered DTC (Kennedy-Eshoo, 2010; Kennedy-Smith, 2007; Obama-Burr, 2007; Laboratory Test Improvement Act of 2007, S.736, 110th Congr.; Genomics and Personalized Medicine Act of 2007). None of these bills has been enacted. Congress has also directed the investigation of DTC companies by the US Government Accountability Office (GAO) on two occasions (United States GAO, 2006, 2010). These investigations have reported fraudulent and deceptive practices by several of the investigated companies.
CONCLUSIONDTC testing entered the US marketplace nearly a decade ago and has generated significant discussion, debate, commenda-tion, and condemnation. Assessments of the quality of ser-vices offered by DTC companies have identified deficiencies in the accuracy of the information being provided by some companies. Preliminary assessments of consumer attitudes and experiences with personal genome service providers indi-cate interest in this mode of test delivery and belief that it can have a positive health impact. The future of this method of test delivery is very much uncertain in light of the FDA’s recent actions, which are likely to increase the requirements for mar-ket entry.
REFERENCES
Alford, S.H., McBride, C.M., Reid, R.J., Larson, E.B., Baxevanis, A.D., Brody, L.C., 2011. Participation in genetic testing research varies by social group. Public Health Genomics 14 (2)., 85–93.
American College of Medical Genetics 2008. ACMG statement on direct-to-consumer genetic testing. <http://www.acmg.net/AM/Template.cfm?Section=Policy_Statements&Template=/CM/ContentDisplay.cfm&ContentID=2975>.
Berg, C., Fryer-Edwards, K., 2008. The ethical challenges of direct-to-consumer genetic testing. J Bus Ethics 77, 17–31.
Bloss, C.S., Schork, N.J., Topol, E.J., 2011. Effect of direct-to-consumer genomewide profiling to assess disease risk. N Eng J Med 364, 524–534.
Centers for Disease Control and Prevention, 2004. Genetic testing for breast and ovarian cancer susceptibility: Evaluating direct-to-consumer marketing—Atlanta, Denver, Raleigh-Durham, and Seattle. MMWR 53, 603–606.
Colliver, V. 2007. Home DNA tests create medical, ethical quandaries. San Francisco Chronicle, Aug. 21:C1.
Food and Drug Administration (FDA), 2007. FDA Draft guidance for industry, clinical laboratories, and FDA staff: In vitro diagnostic multivariate index assays. Available at: <http://www.fda.gov/cdrh/oivd/guidance/1610.pdf>.
Food and Drug Administration (FDA), 2010. Letters to manufacturers concerning genetic tests. <http://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm219582.htm>.
Genetics and Public Policy Center, 2008. Comments to Docket No. FDA-2008-P-0638-0001/CP. <http://www.dnapolicy.org/resources/CommentstoFDAreGenentech.pdf>.
Geransar, R., Einseidel, E., 2008. Evaluating online direct-to-consumer marketing of genetic tests: Informed choices or buyers beware? Genet Test 12, 13–23. (Medline).
Goddard, K.A., Moore, C., Ottman, D., Szegda, K.L., Bradley, L., Khoury, M.J., 2007. Awareness and use of direct-to-consumer nutrigenomic tests, United States, 2006. Genet Med 9, 510–517.
Goddard, K.A.B., Robitaille, J., Dowling, N.F., Rarrado, A.R., Fishman, J., Bradley, L.A., et al., 2009. Public Health Genomics 12, 92–104.
Goetz, T., 2007. 23andMe will decode your DNA for $1,000: Welcome to the age of genomics. Wired Mag 15, 12.
Gollust, S.E., Hull, S.C., Wilfond, B.S., 2002. Limitations of direct-to-consumer advertising for clinical genetic testing. JAMA 288, 1762.
Gollust, S.E., Wilfond, B.S., Hull, S.C., 2003. Direct-to-consumer sales of genetic services on the Internet. Genet Med 5, 332.
Hamilton, A. 2008. TIME’s Best Inventions of 2008: 1. The Retail DNA Test. TIME in Partnership with CNN. <http://www.time.com/time/specials/packages/article/0,28804,1852747_1854493_1854113,00.html>.
Hennen, L., Sauter, A., Van Den Cruyce, E., 2010. Direct to consumer genetic testing: Insights from an internet scan. N Genet Soc 29, 167–186.
Hogarth, S., Javitt, G., Melzer, D., 2008. The current landscape for direct-to-consumer genetic testing: Ethical, legal, and policy issues. Ann Rev Genomics Hum Genet 9, 161–182.
Holtzman, N., Watson, M. (Eds.), 1997. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing Johns Hopkins University Press, Baltimore.
Hudson, K., Javitt, G., Burke, W., Byers, P., 2007. ASHG statement on direct-to-consumer genetic testing in the United States. Am J Hum Genet 81, 635–637.
Hudson, K., Terry, S., Lurie, P. 2006. Petition for rulemaking. <http://www.dnapolicy.org/resources/Petition_For_Rulemaking_September_2006.pdf>.
Human Genetics Commission, 2003. Genes Direct: Ensuring the Effective Oversight of Genetic Tests Supplied Directly to the Public. Department of Health, London.
Janssens, A.C.J.W., Gwinn, M., Bradley, L.A., Oostra, B.A., van Duijn, C.M., Khoury, M.J., 2008. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalized health interventions. Am J Hum Genet 82, 593–599.
Javitt, G., 2007. In search of a coherent framework: Options for FDA oversight of genetic tests. Food Drug Law J 62, 617–652.
Javitt, G., Stanley, E., Hudson, K., 2004. Direct-to-consumer genetic tests, government oversight, and the first amendment: What the government can (and can’t) do to protect the public’s health. Oklahoma Law Rev 57, 251–302.
Kaufman, D., Murphy Bollinger, J., Devaney, S., Scott, J. 2010. Direct from consumers: A survey of 1,048 customers of three direct-to-consumer personal genomic testing companies about motiva-tions, attitudes, and responses to testing. Presented at the 60th Annual Meeting of The American Society of Human Genetics, November 5, 2010, Washington, DC. <http://www.ashg.org/2010meeting/abstracts/fulltext/>.
Kennedy, P., Eshoo, A., 2010. Personalized medicine. <http://thomas.loc.gov/cgi-bin/bdquery/D?d111:4:./temp/~bd1l48::|/home/LegislativeData.php|>.
Kennedy, E., Smith, G., 2007. The Genomics and Personalized Medicine Act of 2007. <http://thomas.loc.gov/cgi-bin/query/D?c110:1:./temp/~c110FCE9pe>.
Khoury, M.J., McBride, C., Schully, S.D., et al., 2009. The scientific foundation for personal genomics: Recommendations from a national institutes of health-centers for disease control and pre-vention multidisciplinary workshop. Genet Med 11, 1–9.
Kolor, K., Liu St., T., Pierre, J., Khoury, M.J., 2009. Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States. Genet Med 11, 595.
Lachance, C.R., Erby, L.A.H., Ford, B.M., Allen, V.C., Kaphingst, K.A., 2010. Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to con-sumers. Genet Med 12, 304–312.
Marcus, A., 2003. First ad campaign touts genetic screening for can-cer. HealthScout News Sept. 23 <http://www.lifeclinic.com/healthnews/article_view.asp?story=509235>.
McBride, C.M., Alford, S.H., Reid, R.J., Larson, E.B., Baxevanis, A.D., Brody, L.C., 2009. Characteristics of users of online personalized genomic risk assessments: Implications for physician-patient interactions. Genet Med 11, 582–586.
McGuire, A.L., Diaz, C.M., Wang, T., Hilsenbeck, S.G., 2009. Social net-workers’ attitudes toward direct-to-consumer personal genome testing. Am J Bioeth 9, 3–10.
Mihaescu, R., van Hoek, M., Sijbrands, E.J.G., Uitterlinden, A.G., Witteman, J.C.M., Hofman, A., et al., 2009. Evaluation of risk prediction updates from commercial genome-wide scans. Genet Med 11, 588–594.
Mouchawar, J., Hensley-Alford, S., Laurion, S., Ellis, J., Kulchak-Rahm, A., et al., 2005. Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a man-aged care organization: A naturally-occurring experiment. Genet Med 7, 191–197.
Myriad Genetics Inc. 2002. Myriad genetics launches direct to con-sumer advertising campaign for breast cancer test. <http://
Ng, P.C., Murray, S.S., Levy, S., Venter, J.C., 2009. An agenda for per-sonalized medicine. Nature 461, 724–726.
Obama, B., Burr, R., 2007. The Genomics and Personalized Medicine Act of 2007. <http://thomas.loc.gov/cgi-bin/bdquery/D?d110:5:./temp/~bdfjTd::|/home/LegislativeData.php?n=BSS;c=110|>.
Offit, K., 2008. Genomic profiles for disease risk: Predictive or prema-ture? J Am Med Assoc 299, 1353–1355.
Pearson, H., 2003. Genetic test adverts under scrutiny. Nat News 17 March <http://www.nature.com/news/2003/030319/full/news030317-3.html>.
Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS), 2010. Direct-to-Consumer Genetic Testing: A Report of the Secretary’s Advisory Committee on Genetics, Health, and Society. National Institute of Health, Bethesda, <http://oba.od.nih.gov/oba/sacghs/reports/SACGHS_DTC_Report_2010.pdf>.
Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS), 2008. U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services. National Institute of Health, Bethesda, <http://oba.od.nih.gov/oba/SACGHS/reports/SACGHS_oversight_report.pdf>.
Secretary’s Advisory Committee on Genetic Testing (SACGT), 2000. Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT. National Institute of Health, Bethesda.
Smith, D.G. 2007. Letter to Kathy Hudson (on file at the Genetics and Public Policy Center). <http://www.dnapolicy.org/resources/CMSresponse8.15.07.pdf>.
Swan, M., 2010. Multigenic conditions risk assessment in direct-to-consumer genomic services. Genet Med 12, 279–288.
Tabor, H.K., Kelley, M., 2009. Challenges in the use of direct-to-con-sumer personal genome testing in children. Am J Bioethics 9, 32–34.
United States Government Accountability Office (GAO), 2006. Nutrigenetic testing: Tests purchased from four web sites mis-lead consumers: GAO-06-977, testimony before the Senate Special Committee on Aging (statement of Gregory Kutz), pp. 2–27.
United States Government Accountability Office (GAO), 2010. Direct-to-consumer genetic tests: GAO-10-847T, Misleading test results are further complicated by deceptive marketing and other ques-tionable practices.
Wade, C., Wilfond, B., McBride, C., 2010. Effects of genetic risk infor-mation on children’s psychosocial wellbeing: A systematic review of the literature. Genet Med 12, 317–326.
Washington Legal Foundation (WLF) (2006). Citizen petition to FDA regarding regulation of laboratory developed tests.
Williams-Jones, B., 2003. Where there’s a web, there’s a way: Commercial genetic testing and the internet. Community Genet 6, 46–57.
Wolfberg, AJ., 2012. Genes on the web - direct-to-consumer market-ing of genetic testing. NEJM 355 (6), 543–545.
RECOMMENDED RESOURCES
Relevant WebsitesNational Institutes of Health (NIH) (2010). What is direct-to-consumer
National Institutes of Health (NIH) (2010). How can consumers be sure a genetic test is valid and useful?
http://ghr.nlm.nih.gov/handbook/testing/validtestThe Secretary’s Advisory Committee on Genetics, Health, and Society
(SACGHS) (2008). US System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Serviceshttp://oba.od.nih.gov/oba/SACGHS/reports/SACGHS_oversight_report.pdf
The Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) (2010). Direct-to-Consumer Genetic Testing: A Report of the Secretary’s Advisory Committee on Genetics, Health, and Society. Bethesda: National Institute of Healthhttp://oba.od.nih.gov/oba/sacghs/reports/SACGHS_DTC_Report_2010.pdf
United States Code, Title 21 Section 321(h)(3)h t t p : / / w w w . f d a . g o v / R e g u l a t o r y I n f o r m a t i o n /Legis lat ion/FederalFoodDrugandCosmeticActFDCAct/FDCActChaptersIandIIShortTitleandDefinitions/default.htm
Code of Federal Regulations, Title 21 Section 809.3(h)http://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfCFR/CFRSearch.cfm?fr=809.3
23andMehttp://www.23andme.com
deCODE Geneticshttp://www.decode.com/
Navigenicshttp://www.navigenics.com
LegislationFederal Trade Commission (FTC) Act 2008. Codified at United States
Code, Title 15, Sections 41-58Federal Trade Commission (FTC) Act 1914. Codified at United States
