FDA allows consumers to test for genetic risk

For $199, consumers can swab their cheek to see if they have a genetic risk for Parkinson’s or Alzheimer’s disease.

The U.S. Food and Drug Administration (FDA) has authorized sales for 23andMe, Inc.’s Personal Genome Service Genetic Health Risk (GHR) tests for 10 rare diseases or conditions. These are the first tests approved for sale directly to consumers to provide information on an individual’s genetic predisposition to certain medical diseases or conditions.

And they will likely unleash a floodgate for future tests from 23andMe and its competitors.

“Consumers can now have direct access to certain genetic risk information,” said Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health in a press release. “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 23andMe GHR tests use DNA from a saliva sample to test for more than 500,000 genetic variants. The tests can tell consumers if they possess a gene variant but cannot determine a person’s overall risk for developing a disease or condition.

The first set of GHR reports for late-onset Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia and Alpha-1 antitrypsin deficiency will be released this month. Consumers must opt in to know if they have the tested Alzheimer’s and Parkinson’s gene variants, though there is no additional cost. The company will release tests later this year for celiac disease, early-onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, hereditary hemochromatosis and Glucose-6-Phsophate Dehydrogenase deficiency (G6PD).

Previously, the only way for Americans to get genetic testing was through orders of a medical professional.

The FDA cautions there can be false positive or false negative tests. Results are not intended to be used for diagnosis or to inform treatment decisions, and consumers are recommended to consult with a healthcare professional. The FDA’s approval does not include GHR tests that function as diagnostic tests, which are often used as the sole basis for major treatment decisions, such as the BRCA gene for breast and ovarian cancer.

The FDA approved the tests using the de novo premarket review pathway, an option for novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device. The agency is establishing criteria, called special controls, to specify its expectations for assuring the tests’ accuracy, reliability and clinical relevance. That would allow additional or similar competitor tests to reach the market after a one-time FDA review—and fast.

23andMe previously attempted direct-to-consumer disease risk testing but in 2013 the FDA banned the company from sharing data about disease risk with its customers. Regulators worried consumers would misinterpret the results. The company was only allowed to provide ancestry information.

In 2015, 23andMe was granted approval for inherited genetic tests that determine whether people carry certain gene mutations for diseases. The company could offer users carrier screening for heritable diseases that would not affect them but could be passed to their children, such as cystic fibrosis and Tay-Sachs disease.  

23andMe was founded in 2006 and has been providing the same genetic tests the FDA just authorized to customers in Britain and Canada since 2014. 

Nicole Stempak

Nicole was Senior Editor at I Advance Senior Care and Long Term Living Magazine 2015-2017. She has a Journalism degree from Kent State University and is finalizing a master’s degree in Information Architecture and Management. She has extensive studies in the digital user experience and in branding online media. She has worked as an editor and writer for various B2B publications, including Business Finance.