FDA cautions patients to not use data gained from the DTC test to make healthcare decisions on their own

Clinical laboratories continue to be impacted by the growing direct-to-consumer (DTC) testing market, as more walk-in lab customers order at-home tests. Now, the US Food and Drug Administration (FDA) has authorized a DTC test company to provide results of a pharmacogenetic (PGx) test to customers without needing a doctor’s order. This is the first genetic test of its kind to receive such FDA authorization and is in line with the government’s focus on precision medicine.

23andMe gained the authorization through the FDA’s de novo classification process, which the FDA uses to classify new devices that have no existing classification or comparabledevice on the market. 

“We’ve continued to innovate through the FDA and pioneer safe, effective pathways for consumers to directly access genetic health information,” said Anne Wojcicki, co-founder and CEO of 23andMe, in a news release. “Pharmacogenetic reports are an important category of information for consumers to get access to, and I believe this authorization opens the door for consumers to work with their health providers to better manage their medications.”

However, some experts caution that informing patients directly on how they metabolize medications based on genetic testing could encourage them to bypass physicians and medical laboratories in the decision-making process.

In a safety communication, the FDA alerted patients and healthcare providers that “claims for many genetic tests to predict a patient’s response to specific medications have not been reviewed by the FDA and may not have the scientific or clinical evidence to support this use for most medications. Changing drug treatment based on the results from such a genetic test could lead to inappropriate treatment decisions and potentially serious health consequences for the patient.”


Tim Stenzel, MD, PhD (above), Director, Office of In Vitro Diagnostics and Radiological Health at the FDA, told FierceBiotech, “This test should be used appropriately because it does not determine whether a medication is appropriate for a patient, does not provide medical advice, and does not diagnose any health conditions. Consumers should not use this test to make treatment decisions on their own.” (Photo copyright: LinkedIn.)

PGx Supports Precision Medicine

Pharmacogenetics (PGx) is the study of how genetic differences among individuals cause varied responses to certain drugs. Demand for PGx testing has increased exponentially as it becomes more valuable to consumers. It could provide a path to precision medicine treatment plans based on each patient’s genetic traits. And help determine which drug therapies and dosages may be optimal and which medicines should be avoided.  

“This test is a step forward in making information about genetic variants available directly to consumers and better inform their discussions with their healthcare providers,” Stenzel told FierceBiotech. “We know that consumers are increasingly interested in genetic information to help make decisions about their healthcare.”

The genes and their variants examined in the 23andMe PGx test are:

  • CYP2C19 *2, *3, *17;
  • CYP2C9 *2, *3, *5, *6, rs7089580;
  • CYP3A5 *3;
  • UGT1A1 *6, *28;
  • DPYD *2A, rs67376798;
  • TPMT *2, *3C;
  • SLCO1B1 *5; and,
  • CYP2D6 *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *15, *17, *20, *29, *35, *40, *41.

Hospitals Bring PGx Testing to Primary Care

Innovative hospital and health networks also are starting to make PGx tests available in primary care settings.

Sanford Imagenetics, part of the Sanford Health system, has produced a $49 laboratory-developed test (LDT) for genetic screening known as the Sanford Chip to help physicians select the most advantageous therapies for their patients. It uses a small amount of blood to identify patients’ risk for certain genetic diseases and determine which medications would be best for them. 

Sanford Health, headquartered in Sioux Falls, SD, is one of the largest health systems in the US with 44 hospitals, 1,400 physicians, and more than 200 senior care locations in 26 states and nine countries.

Geisinger Health, headquartered in Danville, PA, has initiated a pilot project based on PGx testing. The genetic sequencing data from 2,500 patients will be reviewed to determine if they are taking the best medication for their health conditions. Patients in need of changes to their prescriptions will be contacted by Geisinger pharmacists for recommendations.

As consumer demand for PGx testing increases, DTC customers will likely continue seeking new information about their genome. Clinical laboratories could play a role in interpreting that data and assisting pathologists and other healthcare providers determine the best drug therapies for optimal health outcomes.

—JP Schlingman

Related Information:

FDA Clears 23andMe’s DTC Drug Metabolism Test

FDA Clears the First Consumer Genetic Test for How Well Your Medications May Work—with Caveats

23andMe Granted the First and Only FDA Authorization for Direct-to-Consumer Pharmacogenetic Reports

Your Genes Can Show Us How Your Body Reacts to Drugs

Sales of Direct-to-Consumer Clinical Laboratory Genetic Tests Soar, as Members of Congress Debate How Patient Data should be Handled, Secured, and Kept Private