23andMe cannot replace doctors

23andMe has officially received approval from the FDA to run tests to report medical health risks for ten diseases including, but not limited to, Parkinson’s disease, Alzheimer’s disease, hereditary hemochromatosis and hereditary thrombophilia. (Courtesy/23andMe)

Over the past decade or so, genealogy tests have become quite common. In these tests, customers send a DNA sample to a company via a saliva swab, and for around $100, they receive a report about their genetic heritage, all without the involvement of a doctor or similar medical professional. These tests have traditionally been restricted to genealogical heritage, but one company by the name of 23andMe has officially received approval from the FDA to run tests to report medical health risks for ten diseases including, but not limited to, Parkinson’s disease, Alzheimer’s disease, hereditary hemochromatosis and hereditary thrombophilia, according to NPR report. However, even though these direct-to-consumer tests have been approved, they should not be used for self-diagnosis of diseases.

First of all, third-party health risk testing is still in its infancy, and while 23andMe has proven that its tests can meet the accuracy requirements of the FDA, the company has admitted that false results – both positive and negative – can occur. The same goes for any medical test, but there is a significant difference between receiving this information from a third party versus receiving it from a doctor. In a medical setting, these test results can be interpreted by a doctor who has been trained to give diagnoses and follow-up questions can be answered with ease.

It is also important to consider the fact that genetic tests alone are not the only component of a medical diagnosis. Environmental factors, previous medical history and lifestyle can also influence a person’s risk of developing a certain disease. Not only would a third-party company be unable to analyze all of this information without the proper medical background, but the company would have to request that its customers further compromise personal medical information that would normally be restricted to medical professionals.

As a result, the FDA has declared that results “should not be used for diagnosis or to inform treatment decisions,” according to a Scientific American report. The problem is that people will naturally use their genetic health test results to draw conclusions about their risk of developing a disease.

As Mary Freivogel, president of the National Society of Genetic Counselors, said in an NPR report, many customers “take the results and run.” Much of the counseling process is lost when the results can be mailed straight to the customers’ homes. For example, Freivogel mentioned the pre-test conversation as an important part of the counseling process. At this point, counselors and patients discuss why the patients want the tests to be run, and what will be done with the information after a positive or negative result is obtained. Without counseling, patients often read too much into their results and grow anxious about their medical risks, despite the fact that the direct-to-customer tests cannot provide an official diagnosis.

This isn’t to say that concerned patients should not have medical tests run to check for their risk of certain diseases. However, a test through a company such as 23andMe is not a proper way to obtain this information. Those who believe they may be at risk of obtaining certain medical disease should visit a doctor for the necessary tests and guidance, since these individuals have received a thorough background in medical school that allows them to better interpret symptoms and other indications of disease. These conclusions, while possibly requiring slightly more patience, allow patients to see an accurate representation of their health status with the proper counseling readily at hand. It is also much easier to keep the test reports on file and do follow up examinations on the results.

The FDA’s approval of 23andMe’s genetic health tests is only one step toward what could become an entirely new system of obtaining genetic health information. However, this information cannot be used to support any viable diagnosis. Therefore, the tests would serve only to confirm or deny a patient’s previous apprehensions, causing him or her nothing more than increased anxiety over a concern that might not even be valid. Instead, curious patients should turn toward medical professionals for conclusions about their medical health, as well as instructions for how to proceed.


Alex Oliveira is a staff columnist for the Daily Campus. She can be reached via email at alexandra.oliveira@uconn.edu.