The U.S. Food and Drug Administration (FDA), which regulates the manufacturing and marketing of commercial laboratory tests, recently instructed a genetic testing company to discontinue marketing saliva collection kits and personal genomic services for the purpose of health information. The company has complied with the FDA's instruction and has notified customers with a message on its website that it has suspended its health-related genetic test reporting.
Since 2012 and before receiving the FDA's letter, the company, 23andMe, had been selling test kits directly to the public without orders from doctors (also known as direct to consumer or DTC testing) and provided interpretation of the genetic results in a report to the person tested. The information could be used by the consumer to make decisions about medical-related issues.
Laboratory tests used for diagnosis, screening, monitoring or management of conditions and diseases are considered medical devices and fall under the regulation of the FDA. Depending on the situation, medical devices have the potential to cause varying degrees of harm if used improperly. To protect consumers, the FDA has requirements in place with which manufacturers of medical devices must comply to ensure that the products are safe and effective.
For example, companies must provide evidence and documentation that their product does what it says it will do—that it can perform as intended. If a lab test is used in the diagnosis of a particular type of cancer, for instance, it must reliably detect that cancer in people who have it and rule out the cancer in people who don't. Documentation showing valid test performance must be provided for a test to be approved by the FDA for marketing. (Read more about this in the article on Commercial Laboratory Tests and FDA Approval.)
In the time since 23andMe first marketed its genetic tests to the public, it has not provided the FDA with the evidence that their tests perform as intended, thus the FDA sent the warning letter. In the letter, the FDA provided the BRCA test as an example of one that could cause serious consequences if not properly validated and results interpreted correctly.
"For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist," wrote the FDA. The BRCA test and other similar genetic tests sold to the public by 23andMe, which can lead to drastic medical decisions such as removal of breasts (mastectomy), are "particularly concerning," said the FDA.
Though some individuals may see an advantage in easily accessible and inexpensive tests from companies that sell tests directly to consumers, there is potential for harm. To ensure quality and public safety, clinical laboratories and laboratory tests are highly regulated. (For more on this, read Lab Oversight: A Building Bock of Trust and How Reliable is Laboratory Testing?)
Furthermore, information provided by genetic tests must be interpreted carefully. That is why it is generally advised that people talk to genetic counselors and other health care practitioners who specialize in the field before deciding to be tested or making health decisions based on that genetic information.
In a message on its website, 23andMe stated that the company "have suspended our health-related genetic tests to comply with the U.S. Food and Drug Administration's directive to discontinue new consumer access during our regulatory review process…However, 23andMe may provide health-related results in the future, dependent upon FDA marketing authorization." Meanwhile, the company is offering information on refunds to people who had purchased testing kits before the suspension of services.
Any tests sold going forward are for the purpose of ancestry testing only. 23andMe describes themselves as "the largest DNA ancestry service in the world." Genetic ancestry testing is a way of gaining information about a person's genealogy through examination of their DNA.
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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used.
November 22, 2013. FDA Warning Letter. Document Number: GEN1300666. Re: Personal Genome Service (PGS). Available online at http://www.fda.gov/iceci/enforcementactions/warningletters/2013/ucm376296.htm through http://www.fda.gov. Accessed January 2014.
23andMe ancestry only notice. Available online at https://www.23andme.com/ancestry-only-notice/?redirect=wGLKAsZoY2cXoufEvx8Z6El_W5ayS-wxAs2ZsuEqKaI= through https://www.23andme.com. Accessed January 10, 2013.
November 25, 2013. 23andMe Press Release. 23andMe Statement Regarding FDA Warning Letter. Available online at http://mediacenter.23andme.com/press-releases/fda-letter-2013/ through http://mediacenter.23andme.com. Accessed January 13, 2014.
December 5, 2013. 23andMe Press Release. 23ANDME, INC. Provides Update on FDA Regulatory Review. Available online at http://mediacenter.23andme.com/press-releases/23andme-inc-provides-update-on-fda-regulatory-review/ through http://mediacenter.23andme.com. Accessed January 13, 2014.
Genetic Home Reference. What is genetic ancestry testing? Available online at http://ghr.nlm.nih.gov/handbook/testing/ancestrytesting through http://ghr.nlm.nih.gov. Accessed January 2014.