Direct-to-Consumer Genetic Testing
Direct-to-Consumer Genetic Testing (DTC) allows individuals to access genetic testing directly without needing a healthcare provider's authorization or genetic counseling. Consumers can purchase testing kits, perform the tests at home, and send samples to laboratories for analysis. The results, which typically indicate potential genetic conditions but are not definitive diagnoses, remain private and do not become part of the individual's medical records. This aspect appeals to many, especially in light of concerns regarding privacy and potential discrimination, as protections like the Genetic Information Nondiscrimination Act of 2008 are in place.
The landscape of genetic testing has evolved significantly since the Human Genome Project mapped the human genome, leading to the development of various tests that can assess the risk of genetic disorders. However, it is crucial to understand that while DTC tests can provide insights, they do not replace the comprehensive information provided through traditional genetic counseling, which helps individuals interpret results and understand their implications. Additionally, DTC testing is not regulated by the FDA in the same manner as other medical devices, which raises questions about the reliability and accuracy of the results. Overall, DTC genetic testing represents a growing trend in personal health empowerment, yet it comes with considerations regarding the interpretation and implications of genetic information.
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Direct-to-Consumer Genetic Testing
Genetics plays a role in many debilitating or fatal disorders and diseases. Our understanding of the human genome makes it possible for ever more genetic testing to be done to determine if a person has the genetic markers for these disorders. Genetic tests can also determine if a person is carrying a gene that could act alone or in combination with the genes of a partner to produce a child at risk for a genetic disorder or disease. Even though the tests require only a mouth swab or a small amount of blood, for years the only way to have a genetic test performed was to go to a doctor or testing facility. Counseling about the results was often required as part of the process. Recently, direct-to-consumer genetic testing (DTC) has become possible. With DTC, an individual purchases a kit and performs the test at home before mailing it to the testing company for analysis.
Background
For centuries, medical professionals and families with a recurrence of diseases across generations guessed there might be a genetic component to these diseases. Tests for their genetic components were among the earliest genetic tests performed in the United States. In the second half of the twentieth century, it became possible to assess and test for a range of genetic anomalies in individuals. This testing was performed with an eye toward identifying the risk that the individual had the genetic potential to have a child with a specific disorder or disease, or that the individual had the genetic potential to develop the specific disorder or disease in the future. Genetic counseling was part of the process, to help the individual understand the true risk, since having the gene alone was not necessarily a guarantee that they would develop the disease. This is because many genetic diseases require environmental and other exposures before they become full blown. This genetic counseling was done in a nondirective manner, meaning that the purpose was to inform the consumer and let that consumer make the decision that was right for them.
Since the successful completion of the mapping of the human genome by the Human Genome Project in 2003, many more genetic tests have been developed. These tests are suggested by doctors and performed at their request, and have been proven to have diagnostic value. When they are performed correctly, the results are statistically accurate. Also, possession of this information has diagnostic value to the individuals receiving the results. It allows them to make informed decisions about their health care. Once again, genetic counseling is part of the process. This allows the individual time to assimilate the news and related medical information that is necessary to place the test result in context and reach a decision that is not mandated by the counselor, but that is made with full knowledge of the ramifications of taking or not taking action of some sort. The various options for action—or nonaction—are also discussed during genetic counseling.
Overview
Direct-to-consumer genetic testing differs from traditional genetic testing in that it does not require authorization or genetic counseling. The test is marketed and sold directly to the consumer. Results are obtained after the test is analyzed in a private lab. These results are generally indicative of a genetic condition rather than diagnostic.
One attractive aspect of DTC tests is that the results, and indeed the fact that the tests were taken at all, are known only to the consumer and the testing company. The results do not become a permanent part of the consumer’s medical record. One other area of concern that is addressed by DTC testing is that future employers are not privy to this information and cannot discriminate in hiring based upon it. The Genetic Information Nondiscrimination Act of 2008 was passed to prohibit such use, but many consumers are wary of potential misuse of test results despite this protection.
The Food and Drug Administration (FDA) is charged with ensuring that food is safe, medical products are both safe and effective, and the public health is advanced and protected. However, the FDA does not monitor private laboratories. This means the consumers of DTC genetic tests are using tests run by facilities without FDA oversight at any point in the testing process. Genetic tests do have some FDA regulation; they fall under the category of medical devices, because they are "intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease." Opponents of FDA regulation for genetic testing, meanwhile, have objected to this classification, asking why health clubs and diet programs are not also included.
The claims of DTC genetic testing companies are generally carefully worded. They assure the consumer of results that are in accordance with current analysis of genetic conditions, or with an analysis of potential genetic defects. They are not testing for one specific condition with a test designed to discover the makeup required for that defect, but rather providing an overall reading of a person’s genetic makeup. Because it has been discovered that genetics alone are rarely enough to cause a genetic disorder or disease to manifest, any markers discovered through genetic testing should be understood as demonstrating the possibility, rather than the certainty, of developing that condition.
In November 2013, the FDA took action against leading DTC genetic testing company 23andMe, forcing them to stop advertising their service as an evaluation of health risks. 23andMe ceased providing reports on the risk levels of various diseases, but it and other such companies continue to provide raw genetic data. This data could then be fed into a variety of online databases that will analyze the information to create a report similar to the one 23andMe once provided. As such, many consumers continued to use DTC genetic testing services as a way of obtaining health information. 23andMe gained FDA approval for some of its health-related tests in 2015, but as of April 2016, no other DTC service had been approved.
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