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What can raw data from a direct-to-consumer genetic test tell me?

In addition to providing various reports and analyses based on your genetics, some direct-to-consumer genetic testing companies make your raw data available to download. The raw data are your genotype—the particular A’s, C’s, T’s, and G’s of your DNA—extracted from the sample you provided. These data are unique to you. Most companies caution that the raw data are only for research or education and are not suitable for medical purposes, such as diagnosing a disease.

It is challenging to interpret raw genotype data on your own. To help with this, several online “third-party interpretation” services offer analysis and interpretation of the raw data collected by another company. Third-party interpretation services can potentially use your genetic data to provide you with more information about your disease risk, traits, and ancestry. However, these services also have some risks and limitations:

  • Relatively often, test results indicate an increased risk of disease when your risk is not actually higher than that of the general population. These errors can cause stress and anxiety.

  • The results may include unexpected or upsetting information about your disease risk or family relationships without any context or guidance.

  • The raw data, once you download it and send it by e-mail or store it on your computer, is no longer protected by the original service’s privacy measures.

  • There is little regulation of third-party interpretation services.

As with any kind of genetic testing, it is important to assess the credibility of any company you are considering and find out how it protects your privacy before submitting your genetic information. Your healthcare provider can help you understand your results and determine whether any follow-up testing would be useful.