Positive Genetic Test Results for Rare Disease Risk are not Necessarily a Cause for Alarm

According to a story from Global News, direct-to-consumer genetic tests are becoming increasingly popular. These tests can be used to learn new info about your ancient ancestors, closer relatives, and, in some cases, your chances of developing a certain disease based on your genetic profile. Naturally, getting a result that says you are at risk for a rare disease can be alarming. However, before having a anxiety-induced breakdown, there are some things you should know.

  1. The usefulness of these genetic tests in determining certain disease states is still a subject of considerable debate within the scientific community. Some tests may send back results telling you that you are at elevated risk for several diseases, but the fact is that the extent of the role that genes play in disease can vary widely. There are some diseases that are almost entirely the result of genetics, often caused by specific mutations. A prime example is cystic fibrosis, which is considered a monogenic disease. This means that anyone with the mutation is either actively experiencing symptoms or a carrier of the mutation. However, hypertension, in which genes clearly play a role, is still strongly affected by other factors, such as diet and lifestyle choices. Therefore, even if your genes suggest a higher risk, you are not guaranteed to get or have it.
  2. Some direct-to-consumer tests are just not relevant for your genetic background. An example is a test from 23andMe, which is meant to detect BRCA mutations which play a role in breast, prostate, and ovarian cancer. This test only detects genetic variants that appear in the Ashkenazi Jewish population, so if you are not a part of this group, you could still be at risk if you receive a negative result.
  3. These tests are no substitute for a visit to your doctor. If you get a positive result that seems concerning, the best thing that you can do is visit your care provider, discuss the test results, and get a second opinion. Your doctor can advise you on whether seeking feedback from a genetic specialist could be relevant. These tests are not the equivalent of a clinical genetic analysis.

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