Direct-to-Consumer Marketing of Genetic Tests: Access Does Not Reflect Clinical Utility

Abstract

Ten years ago, the idea of ordering a test on the Internet that could determine your risk for 100 genetic traits and conditions was science fiction. Today, there are dozens of companies offering direct-to-consumer (DTC) genetic testing services. In the era of genomics, with the promise of personalized medicine, these types of tests can be exciting to consider and may have the potential to increase consumer literacy around genetics and genomics. DTC test delivery increases individuals’ access to genetic tests and may also encourage consumers to take a proactive role in their health care. In general, most of the reputable DTC companies use labs that are regulated under the Clinical Laboratory Improvement Amendments of 1988 (CLIA). This provides some guarantee of the analytic validity of the tests they perform. However, questions are often raised regarding the interpretation of test results (clinical validity) and the public’s understanding of these interpretations (a flavor of clinical utility). Many of these tests and results include singlenucleotide polymorphisms that are presumably associated with common conditions. Despite the discoveries that have been made through genome-wide association studies, we still have relatively little information on genetic associations with common diseases and how genes interact with the environment to shape risk for certain diseases. The regulation of DTC testing has recently drawn considerable attention. While the Food and Drug Administration (FDA) has had concerns about the marketing of these tests since their inception several years ago, in summer 2010 the FDA issued letters to 21 DTC companies, warning them that their tests were subject to device regulation. This came on the heels of a 2-day public meeting to hear the community’s thoughts on oversight of laboratory-developed tests (LDTs). Interestingly, the problems that are observed with DTC tests reflect the problems with genetic testing in general, including the need for guidelines and regulation. The FDA’s interest covers all LDTs, not only DTC tests. While the regulatory debate continues between DTC companies and the FDA, it is important for health-care providers and consumers to understand the risks and benefits of accessing DTC genetic services. One of the critical issues with genetic testing, whether it is offered directly to the consumer or not, is the concept of clinical utility. As the testing community is well aware, clinical utility refers to the use of test results to inform clinical decision-making (Grosse and Khoury, 2006). Clinical utility is a difficult concept to apply in genetic medicine because it can be dependent on the context of the testing application. There is a delicate balance between offering a test that has incomplete safety and effectiveness data and stifling the market for these tests, limiting public access to an emerging service. For DTC and genetic tests in general, it is necessary to understand how clinical utility is assessed and to determine how we build on utility evidence to improve the benefits of genetic testing for consumers. It is also important to consider the potential of these services to increase the amount of data that is needed for correlation studies and utility evidence. The data needed to develop evidence for clinical utility can be effectively gathered through ongoing studies that occur after a test has already been made available to the public. As mentioned earlier, DTC marketing and sales of genetic tests increases the likelihood that an individual will have access to a particular genetic test. While easy access can be beneficial—increasing availability can empower consumers to be more proactive in their health—consumers also need to consider the risks of genetic tests that might not yet have clinical validity or that need an intermediary health-care professional. The rising number of genetic tests and our expanding genetics knowledge has made it increasingly difficult for health-care providers to keep up to date on all of the tests available. Misinformation or mismanagement of information may be one of the dangers of DTC testing. Furthermore, little evidence exists related to the psychosocial harms and benefits of genetic testing. For example, there is a risk that consumers may gain a false sense of security or experience heightened anxiety after receiving the interpretation of their test results for particular conditions. More research is needed in this area, including post-market surveillance of tests. Determining evidence thresholds for genetic testing requires a stratified approach to assessing risk. Simultaneously, we must take care not to stifle the advancement of these genetic testing applications. Test developers, consumers, and healthcare providers share the same goals: accurate and reliable information, the advancement of science, and better