The need for regulation of direct-to-consumer genetic testing in the United States: assessing and applying the German policy model.

• Published date: 22 March 2013
• Author: Sunderman, Sarah F.
• Date: 22 March 2013

INTRODUCTION: OVERVIEW OF GENETIC TESTING

In 2008, Time Magazine declared 23andMe's (1) retail DNA test the "Invention of the Year." (2) The actual value of this and other direct-to-consumer ("DTC") genetic tests remains to be seen, however, and government agencies worldwide have been left to decide if and how strictly to regulate this relatively new but growing field of genetic technology.

The study of genetics began in earnest with Gregor Mendel's principles of heredity in the 1860s. (3) The importance of his work, however, was not recognized until 1900, when Hugo de Vries and two other researchers independently verified and published Mendel's results. (4) From there, scientists developed the chromosomal theory, and in 1953, Watson and Crick discovered the double helix structure of DNA as the chemical basis for gene heredity. (5) Throughout the mid and late twentieth century, genetic researchers made substantial advances, beginning with newborn screening for phenylketonuria (6) in the 1960s, which ultimately led to screening for numerous other genetic diseases in the 1970s and 1980s. (7) In 1990, scientists began the Human Genome Project, an international effort to discover and study all human genes and make them accessible for further biological research. (8) Scientists also strove to determine the complete sequence of the three billion DNA base pairs in the human genome. (9) The project was completed in 2003, two years ahead of schedule. (10)

As a result of these efforts, scientists have now developed genetic tests for more than 2,200 diseases; around 2,000 of those tests can be used today in clinical settings. (11) However, since researchers have yet to pinpoint most of the genetic components that cause diseases, genetic testing may not provide a complete or totally valid result. (12) Some genetic tests focus on a single gene or genetic mutation to detect a specific genetic disorder, but so-called genomic technologies (13) have been developed to examine "multiple genes that may increase or decrease a person's risk of common diseases, such as cancer or diabetes." (14) These types of tests analyze an individual's DNA for individual base (15) changes called single nucleotide polymorphisms ("SNPs") (16) to then estimate the individual's risk for certain conditions, both common and rare. (17) Estimated risk predictions are based on studies comparing the existence of certain SNPs to the occurrence of certain conditions and diseases within a greater population. (18)

Direct-to-consumer ("DTC") marketing for genome-wide genetic tests emerged as the Human Genome Project came to an end. (19) Companies began using print, television, and Internet advertising to reach consumers--a framework previously employed predominantly by pharmaceutical companies. (20) More DTC testing companies emerged worldwide as internet access and usage increased throughout the next decade, allowing consumers to directly order test kits online without ever involving a physician or genetics specialist. (21) Typically, consumers go to one of the DTC testing company websites, order the test kit, (22) take either a saliva sample or cheek swab using the kit, send the kit back to the company, and receive their results within several weeks, usually via the internet. (23) Depending on the amount of genetic information involved and whether or not the test kit purchased includes a genetic counseling component, DTC testing can cost as little as one hundred dollars. (24)

According to a study conducted by the Genetics and Public Policy Center, there were twenty DTC testing companies in the United States and seven additional DTC companies that required physicians to request the DNA tests as of August 2011. (25) Of the twenty DTC testing companies, eight offer some sort of genetic counseling to consumers, though only five do so without additional costs. (26) Each company tests for predispositions to various diseases and characteristics, differing widely depending on the company. They test for genetic conditions ranging from serious, untreatable diseases such as Alzheimer's disease and Lou Gehrig's disease ("ALS") to physical characteristics, such as male pattern baldness, and personality traits. (27)

This Note explores the ever-evolving genetics testing industry, specifically DTC tests that are manufactured and marketed by private companies. (28) Part I evaluates the arguments in favor of DTC genetic testing, and Part II assesses the concerns held by those opposed to DTC testing. After giving an overview of the current United States regulatory framework in Part III, Part IV outlines a selection of regulatory recommendations published by various American and international genetics organizations and governmental agencies. Part V then examines Germany's regulatory approach, which results in an effective ban on DTC genetic testing. Ultimately, after addressing some proposed solutions, Part VI advocates for a regulatory approach in the United States comparable to Germany's, though less strict and more nuanced.

I. POTENTIAL BENEFITS OF DIRECT-TO-CONSUMER GENETIC TESTING

Proponents of DTC testing, including scholars and the DTC companies themselves, cite numerous benefits that could result from genetic testing. These DTC testing services make genetic testing more accessible, because they are relatively affordable and not dependent on an individual's geographic location or ability to meet with a physician or geneticist. (29) Moreover, DTC testing companies and some scholars highlight the benefits of individual autonomy and the right of individuals to access their own personal genetic information--part of their identity--without the involvement of a physician. (30) Proponents believe this autonomy leads to greater consumer empowerment because it allows individuals to make proactive, preventive lifestyle changes in response to test results indicating predispositions to various conditions. (31) Such a development, in theory, should ultimately lead to improved overall health in those consumers. (32)

This "personalized medicine" approach, according to proponents of DTC testing, gives individuals the ability to make more informed medical decisions, focusing on prevention, prediction, and targeted intervention earlier than was possible before genomic testing. (33) If an individual's results indicate a significantly higher risk for a certain disease or condition, he or she may begin screening for that disease early in order to detect the disease and prevent it from progressing significantly. (34) There is no clear indication, however, that individuals actually change their lifestyle or behavior once they receive the genetic predisposition results. (35)

Proponents also emphasize increased privacy as a major benefit of DTC testing. Without the involvement of a physician, test results do not become part of an individual's medical records, which can leave them vulnerable to discrimination by employers or insurers based on their genetic predispositions. (36) This was more of a concern before the 2008 passage of the Genetic Information Nondiscrimination Act ("GINA"), (37) but DTC testing companies still emphasize complete security, privacy, and individual control over access to the genetic information. (38) Proponents note, however, that should an individual choose to share his or her DTC testing results, the educational value of such genetic information could be highly beneficial to family members and would increase public awareness of genetic diseases in general. (39) DTC testing might also challenge health care providers to become better educated about genetics and heritability. (40) Finally, DTC testing proponents argue that there is public enthusiasm for genetic testing and information, and testing companies provide for this unmet need. (41)

II. POSSIBLE DRAWBACKS OF DIRECT-TO-CONSUMER GENETIC TESTING

Despite these asserted benefits, many scientists and scholars harbor serious concerns about the clinical validity, (42) analytical validity, (43) and clinical utility (44) of predictive DTC testing. In addition, some in the genetics field fear that DTC testing may result in negative psychological and social consequences and problematic ethical issues related to informed consent. These concerns underlie the numerous cautionary public policy recommendations outlined in Part IV of this Note.

A. Clinical and Analytical Validity Concerns

Though most scholars agree that the raw data obtained via DTC genetic testing is accurate, some are concerned about the clinical validity of such tests. (45) Genetic testing is generally more susceptible to laboratory problems than other types of testing, including less laboratory vigilance, since most genetic testing results do not indicate abnormalities. (46) DTC companies handle a high volume of tests and often contract the actual genetic testing out to a third party company, which increases the risk of mix-ups between tests. (47) In fact, in June 2010, 23andMe announced that up to ninety-six individuals may have received and viewed results that were not their own, due to human error in the processing of their saliva samples by the laboratory 23andMe employed to conduct their tests. (48)

Moreover, there are often disparities in results between different genetic testing companies. (49) This occurs, at least in part, because companies use different population definitions when determining the average population disease risk (50) and different sets of clinically validated genetic markers in calculating relative disease risk. (51) For example, one small study comparing 23andMe and Navigenics DTC test results found that only two-thirds of relative risk predictions between the two companies qualitatively matched. (52) Similarly, for seven diseases, fifty percent or less of the predictions of the two companies agreed. (53) Finally, since the markers discovered and used by DTC testing companies do not explain the majority of the genetic heritability of...