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FDA Allows Company to Sell Genetic Risk Tests Directly to Consumers

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June 21, 2017

The U.S. Food and Drug Administration (FDA) granted approval to the genetic testing company 23andMe to market ten genetic risk tests directly to consumers without a doctor's order. While the tests do not diagnose any condition and are not definitive tests of genetic risk, "[they] are the first direct-to-consumer (DTC) tests authorized by the FDA that provide information on an individual's genetic predisposition to certain medical diseases or conditions, which may help to make decisions about lifestyle choices or to inform discussions with a health care professional," according to the FDA.

"Consumers can now have direct access to certain genetic risk information," said Jeffrey Shuren, M.D., director of the FDA's Center for Devices and Radiological Health. "But it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won't ultimately develop a disease." 

The tests cannot determine a person's overall risk of developing a disease or condition, according to the FDA, because genes alone don't always determine whether a person will develop a condition. Factors such as environment and lifestyle choices including exercise and diet play a role as well.

A few years ago, 23andMe began selling DTC genetic tests but was ordered to stop by the FDA in 2013 because the company had not gained agency approval. (FDA Directs Genetic Testing Company to Stop Selling Health-related Tests) There was also concern that customers might not be able to understand test results without the help of a trained health professional and that incorrect information might result in consumers having unnecessary medical procedures.

Since then, the company has worked with the FDA and, in 2015, the FDA gave marketing approval for more than 35 genetic carrier tests for conditions such as cystic fibrosis and sickle cell anemia. (Genomics Company 23andMe Once Again Selling Some Direct-to-Consumer Genetics Tests) Carrier tests don't diagnose diseases but rather let people know if they could pass genetic diseases on to their children, an issue that should be discussed with a healthcare practitioner and a genetic counselor.

Information provided by any genetic testing must be interpreted carefully, so it is generally advised that people talk to genetic counselors or other healthcare practitioners who specialize in the field before being tested or making health decisions based on genetic test results. The National Society of Genetic Counselors advises individuals interested in DTC genetic testing to consider important questions before getting tested. For example, would they want to know that they are likely to get a disease that cannot be prevented or treated? Should they share their results with relatives, since the results might also indicate the relatives' genetic predispositions for certain diseases?

According to a 23andMe company spokesman, four of the new genetic risk tests are currently available, including tests for:

The company has not yet said when the six other tests approved by the FDA will be available. These include tests for:

  • Celiac disease, a condition characterized by an autoimmune response to gluten, a protein found in wheat
  • Early-onset primary dystonia, a disorder involving involuntary muscle contractions and other uncontrolled movements
  • Factor XI deficiency, a disorder in blood clotting that causes excessive bleeding
  • Gaucher disease type 1, an organ and tissue disorder
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD), a red blood cell condition that can cause rapid breakdown of red blood cells (hemolysis)
  • Hereditary hemochromatosis, an iron overload disorder

The test kit, available for purchase online, requires individuals to provide a saliva sample for testing by spitting into a tube that comes with the kit. The sample is returned to 23andMe for genetic testing and analysis. Comprehensive reports with patient-specific information are sent to the consumer in six to eight weeks.

To learn more about DTC tests as well as the benefits and cautions, read Where Lab Tests Are Performed: Through a Direct Access Laboratory.

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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. To access online sources, copy and paste the URL into your browser.

(April 6, 2017) FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. U.S. Food and Drug Administration press release. Available online at https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm. Accessed on May 2, 2017.

April 6, 2017. F.D.A. Will Allow 23andMe to Sell Genetic Tests for Disease Risk to Consumers. New York Times. Available online at https://www.nytimes.com/2017/04/06/health/fda-genetic-tests-23andme.html. Accessed on May 2, 2017.

Phone call with Rachel Reichblum, spokesperson for 23andme. May 3, 2017.

Email exchange with Rachel Reichblum, spokesperson for 23andme. May 4, 2017.

(April 12, 2017) Freivogel, Mary E. FDA Approved 23andMe At-Home Genetic Tests: It's More Than "Just a Test". Available online at http://www.nsgc.org/p/bl/et/blogid=53&blogaid=898. Accessed May 18, 2017.

(©2017) 23andMe. Hereditary Thrombophilia. Available online at https://medical.23andme.org/wp-content/uploads/2017/04/VTE_one_F5_one_F2.pdf. Accessed May 2017.