Direct to Consumer vs. Prescribed Genetics Testing


With the rising of companies such as 23andMe and, genetic information can now be gathered with something as simple as mailing in a saliva sample and waiting for results. Personalized genetic information is literally at your fingertips. However, at what cost is this amazing amount of knowledge available?

While it is reasonable to want the information, there are some concerning factors about direct-to-consumer testing that can be considered to be advantages that a more established diagnostics and genetic testing laboratory can offer. Here are the Top 5 differences between a direct-to-consumer versus a prescribed genetics test.

1) Screening vs Confirmatory Testing and Validation:

While many direct-to-consumer testing options can give accurate results, the reality is that many of the results given are the results of screenings that may not be as sensitive or as specific as what you will get from a diagnostics lab. At diagnostics labs, each sample is taken through a testing process. Often the first step is to screen the entire segment of DNA for ANY variants or abnormalities. Then, after the abnormalities are highlighted, there are confirmatory tests to see if the variants are actually relevant to the test. After that the results are then validated against other published literature to ensure the final results given are comprehensive and informative. Some results may even include suggestions to a physician to mitigate risks for certain genetic conditions.

2) The Doctor is Involved

Direct-to-consumer testing often places the entire process from collection to results in the hands of the consumer/patient. The patient submits a sample and then receives a report in which he or she may take to a physician or genetic counselor to discuss further options. While this allows the patient to have more information to make more informed decisions, often the patient attempts to take ALL of their medical care into their own hands. In many cases, a patient may request treatment options that may not even be necessary due to their genetics results. A doctor is equipped to take the genetic information and combine it with the lifestyle choices needed to complete the puzzle of a healthier YOU.

3) It Helps to Have a Pro

Typically, when one is in their home, there are limited if any opportunities for sterile conditions. There isn’t a box of nitrile gloves lying around. It is unlikely that the average person will have a sterile home with minimal opportunities for microbial contamination. Here is the solution; your doctor’s office/clinic does! In fact, the professional collecting the sample whether it is saliva, cells, or blood is able to ensure that each sample is taken, packaged, and sent in the most sterile conditions possible. This minimizes rejections and inaccuracies, thereby giving more reliable results.

4) Genetic Counseling

Any company that offers genetic testing should offer genetic counseling. Genetic counselors are beneficial in many different ways. They have the ability to communicate complex genetic concepts to a person that has little to no knowledge of scientific information. They are skilled translators between the lab and the patient and/or the physician. Sometimes there are new concepts that a physician may not be abreast of in which case a genetic counselor could be very beneficial. The best recommendation in cases of uncertainty is for the patient and the physician to talk to the genetics counselor together.

5) Getting the Full Picture

One of the biggest misconceptions of genetic testing is that genetics tests will diagnose every disease and every disorder from birth to death. This is just not true. Yes, your genetics play a big role in how you look, sound, the color of your hair, and many more things. Genetic testing can tell you if you are at risk for certain diseases or disorders. Also, in some cases a genetic test can diagnose a disorder (i.e. Huntington’s disease). However, these genetic risk assessments are NOT diagnosing anything. For example, a person may take a Hereditary Risk Assessment such as PREDICT™ in which the results do not yield any known genetic risk for lung cancer. This doesn’t mean that this person will never get lung cancer. It means there is no familial risk for getting lung cancer or passing it on to children. Nevertheless, this is only a piece of the puzzle. This same person could be a habitual smoker for which the risk of lung cancer is significantly higher. Lifestyle choices play a big role in the overall health of an individual. Other things play a role too (i.e. microbiome).

While this great demand for more information about general health is in fact a great thing, the realm of genetic testing is ever-changing. New markers are being discovered and associated with varying diseases and disorders. It is very important to stay in contact with a healthcare professional such as a physician with regards to testing, interpreting results, and making appropriate lifestyle choices to improve your quality of life.