You Have a Right to Your Data… But Is It Really Your Data if It's Inaccurate?

By Eleanor Griffith, MS, CGC · Mar 2018

Many direct-to-consumer (DTC) genetic testing companies give customers the option of downloading their "raw data" — results beyond what was included on the company's report. Uploading to a third-party interpretation service, often for a small fee, can provide rough interpretation of the data. It's free, or close to it. So why not download it and take a look?

How Often Are DTC Genetic Testing Results Right?

Anecdotally, among genetic counselors, it has long been recognized that raw data from DTC companies contain many inaccuracies. Many DTC labs are not CLIA-accredited — the federal standard for analytical accuracy in clinical testing. A study published in Genetics in Medicine followed up on 49 individuals who had found mutations in their raw DTC data. The result: 40% of variants were not confirmed by clinical laboratory testing. Of the 60% that were confirmed, several were reinterpreted as benign.

CLIA Accreditation and Its Limits

CLIA accreditation is a basic requirement of any US laboratory performing clinical testing. CLIA standards are designed to ensure analytical validity. However, CLIA does not regulate clinical validity — even among CLIA-accredited labs, the interpretation of analytically accurate genetic results may differ. A third-party service interpreting raw DTC data must often work without knowing the technical specifications of the original test or how results are labeled.

Family Health History: A Better Starting Point

Family health history may be less exciting than DTC test results — but it is often a better starting point for thinking about your personal health risks and which clinical genetic test would be most useful. If you are in touch with your family and able to ask them about health history — do it.