Written by Miranda Helus
Genetic testing is a method of pioneering biological technology that’s been carved deeply in the mainstream conscience, largely thanks to its dramatic portrayal in media and pop culture. When the general public hears about genetic testing, it most likely thinks about genetically engineering or ‘customizing’ the ideal child (i.e. picking out desirable traits and qualities). However, the medical community emphasizes the role of genetic testing in evaluating diagnostics and disease prevention. And recently, it appears that genetic testing can even accurately detect an individual’s risk of developing a particular medical condition.
In the beginning of April 2017, the FDA had authorized the Genetic Health Risk tests (GHRs) from the home DNA testing company 23andMe; these are the first direct-to-consumer tests to be FDA-approved that can provide information on someone’s genetic predisposition or risk of developing certain disorders [1]. The GHRs are currently applicable for ten diseases: Parkinson’s, Alzheimer’s, celiac disease, hereditary thrombophilia, hereditary hemochromatosis, factor XI deficiency, primary dystonia, alpha-1 antitrypsin deficiency, glucose-6-phosphate dehydrogenase deficiency, and Gaucher disease type 1 [1]. Consumers can use these tests so that afterwards, they can properly discuss with their doctors what lifestyle changes or treatment plans to undergo so as to possibly decrease their risk of actually developing the disease in question [1].
23andMe and the FDA have had other major previous encounters in the market of genetic testing. In 2015, the FDA approved the first direct-to-consumer carrier test for Bloom syndrome from 23andMe [2]. This carrier test would help determine if a healthy individual possessed a gene variant that could put their children at risk of inheriting a disorder [2]. While 23andMe previously offered genetic tests for at least 200 conditions, the FDA demanded they pull these services from the market in 2013 due to both failure to acquire official clearance from the agency for marketing and to demonstrate that these tests were clinically reliable and valid [2]. With the recent FDA approval of the GHRs, however, 23andMe hopes to officially begin selling them this month and have additional GHRs bypass FDA premarket reviews to ensure their quick and efficient release on the market [3].
While these tests can be helpful in understanding an individual’s risk of developing a certain disease, the FDA emphasized that GHRs are neither perfect nor an end-all solution. While genetics can influence a patient’s risk in developing a disorder, consumers do need to be aware that other factors such as lifestyle choices or environmental factors can be major contributors as well [3]. Genetic testing does not singlehandedly determine whether a patient will ultimately develop a certain disease. In addition, these genetic tests are not infallible and do come with several risks such as producing erroneous results that can pave the way for a misleading diagnosis [1]. The FDA recommended that consumers consult with health professionals about their results before reaching any conclusions [1]. Despite the disadvantages and limited accuracy of these tests, the approval of GHRs nevertheless marks another step in the healthcare community’s progress in fully realizing the true potential of genetic testing.
References:
1. 2017. FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. U.S. Food and Drug Administration.
2. 2015. FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome. U.S. Food and Drug Administration.
3. Abrams A. 2017. The FDA Just Approved At-Home DNA Tests for 10 Diseases. TIME.