Direct-to-consumer Testing Research Articles

Direct‐to‐consumer genetic testing: good, bad or benign?

A wide variety of genetic tests are now being marketed and sold in direct-to-consumer (DTC) commercial transactions. However, risk information revealed through many DTC testing services, especially those based on emerging genome wide-association studies, has limited predictive value for consumers. Some commentators contend that tests are being marketed prematurely, while others support rapid translation of genetic research findings to the marketplace. The potential harms and benefits of DTC access to genetic testing are not yet well understood, but some large-scale studies have recently been launched to examine how consumers understand and use genetic risk information. Greater consumer access to genetic tests creates a need for continuing education for health care professionals so they can respond to patients' inquiries about the benefits, risks and limitations of DTC services. Governmental bodies in many jurisdictions are considering options for regulating practices of DTC genetic testing companies, particularly to govern quality of commercial genetic tests and ensure fair and truthful advertising. Intersectoral initiatives involving government regulators, professional bodies and industry are important to facilitate development of standards to govern this rapidly developing area of personalized genomic commerce.

Correlation of education, age, and health insurance status with attitudes about and preferences for direct-to-consumer BRCA testing

e22116 Background: Direct-to-consumer (DTC) cancer genetic testing is increasingly common. However, little is know about peoples' attitudes about or preferences for DTC testing as compared to clinic-based genetic testing. Methods: We surveyed a convenience sample of 257 women without prior BRCA testing/counseling experience about their attitudes about and intentions to get online BRCA testing (90% participation rate). Subjects completed baseline interviews, viewed a modified commercial DTC website and completed an online survey. Results: Sample characteristics: mean age 37 (range 19–71), 80% white, mean education 3 years college, 45% with a household income <$50,000, 3% with a history of breast/ovarian cancer and mean Frank risk 4.7%. 64% of women expressed interest in BRCA testing at baseline and 24% intended to get tested in the next year. After viewing the website, 22% of women said that they would prefer DTC testing, 60% said that they would prefer clinic-based testing and 18% were indifferent. Overall, women believed that DTC testing would be more convenient (p <0.001), offer greater privacy (p <0.01), and be less likely to lead to discrimination (p <0.001) while clinic testing would provide more information (p <0.001) and counseling (p <0.001). After adjusting for confounders, older and less highly educated women had more positive attitudes about DTC BRCA testing (adjusted odds ratio (OR) 4.20, p= 0.02 and OR 10.3, p=0.03 high school (HS) vs. college and OR 16.1, p=0.02 HS vs. graduate school). Women with no health insurance and more positive attitudes about DTC genetic testing were more likely to prefer DTC genetic testing over clinic testing (adjusted OR 3.1, p=0.03 and OR 3.7, p<0.01). There were no associations between race and outcomes. Conclusions: A substantial minority of women expressed a preference for DTC BRCA testing after viewing a modified commercial website. Preferential interest in DTC testing by less educated and uninsured populations makes it especially critical that these sites provide high quality services. Without high quality service, the availability of DTC testing may only exacerbate disparities in genetic services and prevention. No significant financial relationships to disclose.

Taking Responsibility: Regulations and Protections in Direct-to-Consumer Genetic Testing

Starting in November 2007, the New York State Department of Health mailed “cease and desist” letters to thirty-one companies, ordering them to stop providing genetic tests directly to consumers without the involvement of a licensed physician. In June 2008, the California Department of Public Health sent similar letters to thirteen genetic testing companies, also involved in direct-to-consumer (DTC) genetic testing services. 2 These cease-and-desist letters echo public concern regarding laboratory testing standards, the need for physician involvement, and the use of misleading advertising. California has since granted licenses to a number of these companies, but discussions regarding the concerns of DTC testing continue. Among these concerns are the lack of standards used to demonstrate the validity of different genetic tests, uncertainty as to whether healthcare professionals must always be involved in the ordering of such tests to protect patients, and lack of consumer understanding regarding the use of genetic testing.

The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues

This review surveys the developing market for direct-to-consumer (DTC) genetic tests and examines the range of companies and tests available, the regulatory landscape, the concerns raised about DTC testing, and the calls for enhanced oversight. We provide a comparative overview of the situation, particularly in the United States and Europe, by exploring the regulatory frameworks for medical devices and clinical laboratories. We also discuss a variety of other mechanisms such as general controls on advertising and consumer law mechanisms.

Genetic Tests for Sale

Direct-to-consumer (DTC) marketing of medical tests, services, and products has become a trend in the field of health care. Direct-to-consumer tests are those tests which consumers can order, typically via the Internet, without any discretion or triage from a health care provider. Take, for example, Direct Laboratory Services, Inc, a laboratory primarily involved with DTC health care services, whose Web site boasts that “a simple inexpensive lab test could save your life.” The assertion by the company is that “disease prevention…is now made even simpler [and] a Doctor’s appointment is not necessary.” 1 Many other online medical testing companies are also being established, and their development is receiving mixed attention in the media. These companies advertise a variety of medical tests available for direct consumer purchase that range from cholesterol levels to tests for sexually transmitted diseases. Sales of medical products for the home such as glucometers, pregnancy and ovulation detectors, thermometers, and otoscopes are also on the rise. Furthermore, pharmaceutical companies are aware of the potential impact of DTC sales, resulting in a near saturation of commercial television and print media with a variety of advertisements for drugs, such as Wellbutrin and Cialis. While laboratory involvement in the development of DTC marketing of medical services appears to be almost universally on the rise, there is some disconnect between laboratories and this type of approach as evidenced by Quest Diagnostics recent discontinuation of DTC tests through its DTC division QuesTest. 2

Ethical and clinical practice considerations for genetic counselors related to direct‐to‐consumer marketing of genetic tests

Several companies utilize direct-to-consumer (DTC) advertising for genetic tests and some, but not all, bypass clinician involvement by offering DTC purchase of the tests. This article examines how DTC marketing strategies may affect genetic counselors, using available cardiovascular disease susceptibility tests as an illustration. The interpretation of these tests is complex and includes consideration of clinical validity and utility, and the further complications of gene-environment interactions and pleiotropy. Although it is unclear to what extent genetic counselors will encounter clients who have been exposed to DTC marketing strategies, these strategies may influence genetic counseling interactions if they produce directed interest in specific tests and unrealistic expectations for the tests' capacity to predict disease. Often, a client's concern about risk for cardiovascular diseases is best addressed by established clinical tests and a family history assessment. Ethical dilemmas may arise for genetic counselors who consider whether to accept clients who request test interpretation or to order DTC-advertised tests that require a clinician's authorization. Genetic counselors' obligations to care for clients extend to interpreting DTC tests, although this obligation may be fulfilled by referral or consultation with specialists. Genetic counselors do not have an obligation to order DTC-advertised tests that have minimal clinical validity and utility at a client's request. This can be a justified restriction on autonomy based on consideration of risks to the client, the costs, and the implications for society.

Do‐it‐yourself diagnosis

Sandra Thomas is a trailblazer in the brave new world of genetic testing. Less than 5% of Americans have undergone a single genetic test, but the 56‐year‐old Florida woman has taken a dozen tests of the sort now available over the internet. Thomas is unmarried and has no children, but wanted to know if she has the mutation for haemochromatosis, the disease that killed her mother. Tests for two genes uncovered that she is a carrier of the potentially deadly but treatable iron‐overload disease. The tests also gave Thomas a passion for genetic testing in general. She found she has genes that put her at an above‐average risk for periodontal disease, which prompted her to improve her oral hygiene. The results of further tests, which she declined to name, have put her mind at ease about developing other serious conditions.(Fig 1) Figure 1. Some might consider Thomas a genetic‐testing hypochondriac, but she maintained, “I'm just ahead of my time.” Annette Taylor, a molecular geneticist and founder of Kimball Genetics (Denver, CO, USA), which runs genetics tests for major reference labs and now offers direct‐to‐consumer (DTC) testing, said, “Sandra is passionate about gathering information.” Testing for genetic disorders is becoming almost as easy as taking a home pregnancy test. People can use their credit card to order a kit on the internet, use a brush to remove a few cheek cells, return the kit and receive a report via e‐mail, often without involving their personal physicians. DTC tests cost from a few hundred to a few thousand US dollars, and are available for more than 800 conditions including breast and ovarian cancer, cystic fibrosis, coeliac disease, blood‐clotting disorders, dyslipidaemia, fragile X syndrome, Tay–Sachs disease and narcolepsy. > Testing for genetic disorders is becoming almost as easy as taking a home pregnancy test …