Dr. Khoury comments on the personal genomic tests that consumers can buy on the Internet to measure their genetic risk for multiple diseases.
Direct-to-consumer genomewide profiling to assess disease risk provides information about a person's genetic risk of 20 to 40 common polygenic diseases. The tests simultaneously genotype approximately 500,000 variant bases of a person's DNA. Consumers can purchase these tests, currently priced between $400 and $2,000, on the Internet
Proponents argue that providing this type of information directly to consumers may result in improved compliance with health-screening practices and more healthful lifestyle choices.
Skeptics assert that such testing has the potential to cause harm, including anxiety and increased use of unnecessary and expensive screening and medical procedures.
The clinical validity and utility of these tests have not been demonstrated, and given their cost, many observers argue that their sale raises consumer-protection issues.
In a recent study published in the NEJM, subjects who chose to undergo direct-to-consumer genomewide testing, had no short-term changes in psychological health, diet and exercise behavior, or use of screening tests.