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FDA Approves First Direct to Consumer Genetic Test to Determine Carrier Status

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March 16, 2015

The U.S. Food and Drug Administration (FDA) has given approval for a genetic test that determines whether people are carriers of a gene for Bloom syndrome and can pass it on to their children. Bloom syndrome is a rare inherited disease that can cause short stature, sensitivity to sunlight, and a risk of cancer.

Genetic carriers are people who have one copy of a defective gene but typically have no signs or symptoms. Carrier testing lets prospective parents know whether they each are carriers and are at risk of passing on two defective gene copies, one from each them, to any children who then would be affected by the disease. (For more, see the feature article The Universe of Genetic Testing.)

It is the first time the FDA has approved a genetic test to be sold directly to consumers without having a healthcare provider order the test. The test was submitted for FDA review by the firm 23andMe but is not yet available to consumers.

Until November 2013, 23andMe had marketed about 250 direct-to-consumer (DTC) health-related genetic tests and a personal genomic service but was then directed by the FDA to stop offering them. The company had not gotten approval aimed at assuring that the company's genetic tests were accurate, reliable, and clinically meaningful. The FDA was concerned that the tests and the service, if used improperly, had the potential to cause significant harm. (Read FDA Directs Genetic Testing Company to Stop Selling Health-related Tests.)

The FDA says it authorized the Bloom syndrome test in part because it doesn't diagnose the disease but rather lets people know if they could pass it on to their children. The agency is giving the Bloom syndrome test—and similar carrier screening tests—a Class II designation, which means that "the potential for serious harm from the test is relatively low."

The FDA also decided to approve the test because 23andMe submitted data from studies conducted by the company that showed that the test performs as intended and is accurate in predicting whether someone is likely to be a carrier of the disease. The studies also indicated that people not previously familiar with the test, including people in different age, ethnicity and education groups, could understand and follow the test instructions, such as providing a sufficient sample (saliva) for lab professionals to use for testing.

Similar to other home tests, the FDA is requiring that the test results be reported to consumers in a meaningful way, such that they can understand and use the results. Specifically for carrier testing, the label on the test kit must include an explanation of what the results might mean for people who are planning a family and want to know if they might pass on a genetic disease. 23andMe will also be required to explain how to consult with an experienced health professional, such as a genetic counselor, prior to and after testing.

According to Alberto Gutierrez, PhD, director of the FDA's Office of in Vitro Diagnostics and Radiological Health, "the FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information. Today's authorization and accompanying classification, along with FDA's intent to exempt these devices from FDA premarket review, supports innovation and will ultimately benefit consumers."

The agency plans a public comment period so that consumers and experts can weigh in on exempting genetic carrier tests from review before they can be marketed. Already in February, the Association for Molecular Pathology (AMP), a Lab Tests Online partner, issued a revised position statement on DTC genetic testing. The association acknowledges that "Direct access to clinically meaningful genetic testing may add value to patients and consumers, when certain standards are met." In addition to the scientific standards that AMP details are recommendations that DTC companies provide genetic test results and interpretation in lay language and encourage customers to seek genetic counseling and to talk to their physicians about their test results.

23andMe has not yet indicated whether it will offer the Bloom syndrome test soon.

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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.

(February 19, 2015) Food and Drug Administration News Release. FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome. Available online at http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm435003.htm through http://www.fda.gov. Accessed March 4, 2015.

(February 19, 2015) 23andMe. News Alert. Available online at https://www.23andme.com. Accessed March 4, 2015.

Association for Molecular Pathology. Position Statement: Direct Access Genetic Testing (Direct to Consumer Genetic Testing). February 2015. Available online at http://amp.org/publications_resources/position_statements_letters/documents/AMPpositionstatementDTCtesting-FINAL_002.pdf through http://amp.org. Accessed March 2015.

(February 23, 2015) FDA Approves 23andme Genetics Test But Not the One It Halted Earlier. Huffington Post. Available online at http://www.huffingtonpost.com/cecile-janssens/23andme_b_6723328.html through http://www.huffingtonpost.com. Accessed March 4, 2015.

(Reviewed November 10, 2015) Genetics Home Reference. Bloom syndrome. Available online at http://ghr.nlm.nih.gov/condition/bloom-syndrome through http://ghr.nlm.nih.gov. Accessed March 4, 2015.