Consumer Genetic Interpretation Claims

The claim

A common biohacking idea is that you can download the "raw data" file from a consumer DNA test, upload it to a third-party website and receive a detailed report on disease risk, diet, fitness or "optimal" supplements. This page checks that claim. It is information only and not a substitute for genetic counseling.

What is measured and what is calculated

The US Food and Drug Administration (FDA) notes that it assesses whether a test accurately and reliably measures what it claims (analytical validity) and whether the measurement predicts a state of health (clinical validity). [1] Its consumer page says no test is 100% accurate, that results should be discussed with a health care provider, and that consumers may consider a genetic counselor. [1] (FDA page current as of December 2019; check the agency for updates. The page does not address raw-data downloads.)

What the evidence shows

• False positives are documented. A laboratory that reviewed 49 patient samples sent for clinical confirmation after a consumer raw-data result found that 40% of the variants reported in the consumer data were false positives. Some variants flagged as "increased risk" were classed as benign by clinical laboratories and are common in the population. [2] Label: established that raw-data variants need confirmation.
• Spurious "pathogenic" results reach clinics. UK genetics centers described cases in which people used third-party sites, then asked for medical action based on disease-associated variants that were not actually present. [3]
• The human cost. In a small US interview study of 12 people who got a possible disease variant from raw-data interpretation, 3 had it confirmed and 9 did not. Nearly all described emotional distress. [4]
• Wider review. A systematic review of 43 papers found that consumer genetic tests sometimes report false positives or wrongly interpreted rare variants, that some consumers experience adverse psychological effects, and that healthcare consultations can be complex. [5]
• Third-party sites vary. An ethics review of five interpretation sites found questionable clinical validity and utility, and lack of medical supervision, though none of the five sold or shared user data and four of five made no health-benefit claims. [6] That was a 2017 look at five sites; it does not describe every service today.

Trait, fitness and nutrition reports

Reports that match genes to athletic type, diet or "best" exercise are a different kind of claim: an association in studies is not the same as a prescription. A systematic overview of reviews in sport genetics lists weaknesses including low research quality, complexity of traits and low generalizability. [7] In a survey of US sports-medicine physicians, few thought genetic testing to adapt training (12%) was ready for clinical adoption. [8] For nutrition, see DNA-based diets and genetics as a nutrition input. Label: insufficient evidence that acting on such reports improves health outcomes.

Privacy

A raw genetic file is personal data, and uploading it sends a copy to another service, so check what that service keeps. Privacy rules differ by place and are not covered here; see genetic and location data privacy.

How to evaluate a genetic interpretation claim

• Is the result from a clinical laboratory, or only from a raw file?
• Does the report give a confirmed variant name and a source, or only a risk word?
• Does the claim go beyond the study (for example from "associated" to "you should")?
• See confirming genetic test results and polygenic risk scores.