Discussion: At-Home Genetic Tests
At-home genetic tests, also known as direct-to-consumer (DTC) genetic tests, are becoming increasingly popular, as recent technological advances have supported relatively low-cost, information about ancestry, genetic disease predispositions, and even food sensitivities. However, clinical accuracy, safety, and, legal risks associated with purchasing these services remains an area of concern. Some countries, such as Germany, have even banned these types of tests completely.
Author: Ashanthi Snell
At-home genetic tests, also known as direct-to-consumer (DTC) genetic tests, are becoming increasingly popular, as recent technological advances have supported relatively low-cost, information about ancestry, genetic disease predispositions, and even food sensitivities. However, clinical accuracy, safety, and, legal risks associated with purchasing these services remains an area of concern. Some countries, such as Germany, have even banned these types of tests completely.
Before these online DTC genetic tests surfaced from companies like 23andme, the only way for an individual to have their genome sequenced was through a health care provider and at exorbitant costs of thousands of dollars. Direct-to-consumer kits can be sold for a fraction of the cost (usually less than $100) because instead of sequencing the entire genome they focus on the thousands of single-nucleotide polymorphisms or SNPs found in the human genome. SNPs represent a change in a single nucleotide of our DNA and are the most common genetic variation found among humans. By sequencing selected areas of an individual’s genome, these companies argue that consumers can make more informed choices about their health. Despite these claims, concerns surrounding the marketing, privacy, and regulations, or lack thereof, have surfaced.
The GAO (Government Accountability Office) found that “10 out of the 15 companies [that were] investigated engaged in some form of fraudulent, deceptive, or otherwise questionable marketing practices.” Although these test results can be valuable, consumers must be aware of their limitations which are often hidden behind marketing ploys. The claims made by many companies can cause consumers to misinterpret or be misinformed about the clinical accuracy and reliability of their results.
Another concern is that these direct-to-consumer tests do not require a medical professional to be involved. While this may be beneficial, it also raises concerns about interpretation of results, as many of these companies do not provide genetic counseling services alongside their results. One survey from The New England Journal of Medicine found that only 10.4% of people who purchased tests from Navigenics Health Compass, a company that does provide genetic counseling services to their customers, reached out to the company genetic counselors; only 26.5% of Navigenics consumers reached out to their physicians for follow-up consult. The importance of reaching out to genetic counselors or health care providers is vital. Not only to better understand what these results mean but also to figure out what, if anything, needs to be done.
There are also privacy issues surrounding the storage of this commercial genetic information. These companies are not regulated by the Health Insurance Portability and Accountability Act (HIPPA) meaning that their privacy standards are not as rigorous as you would find in the health care system.
Although there are concerns surrounding these at-home genetic tests, they can also provide valuable information. As a consumer, it is important to understand the potential risks of purchasing this product so that you can make informed decisions. In addition, I believe that further steps need to be taken to better regulate and utilize this area of medicine. First, companies need to be honest in their marketing claims. Second, more regulations need to be set in place so that consumers feel comfortable and confident using these products. Finally, these companies have brought to light a potential future of health care: personalized medicine. As these tests becoming more popular, health care providers need to be taught how to interpret and utilize these results to best care for their patients.
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Comment: Dr. Lee
With the availability of at-home genetic tests, comes the responsibility to educate the consumer about the information and services provided, what they mean, scientifically, and for the consumer’s health and performance.
Much published research and educational materials focus on accuracy of DTC tests and methods used to assess genotypic risk, and implications for phenotype from limited genetic information. Consumers should understand that the results of tests are not simple and definitive, but rather open the door for further consult and discussion with experts.
Example, informative study: Tandy-Connor et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genetics in Medicine, 20, 1515-1521 (2018).
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