Genome Testing? NIH Director Francis Collins Gives It a Try

Wonder if you’re prone to certain diseases? Curious about your ancestry? Then you might consider getting your genome scanned.

National Institutes of Health Director Francis Collins was interested in commercially available genetic testing, so he tried it himself. Under an assumed name, Collins sent his DNA samples to three companies and asked for full analysis, which costs $399 to $2500.

Genetic tests don’t tell the whole story of whether an individual is at risk for particular diseases, Collins said at his 26 October talk at the AAAS personalized medicine colloquium. The tests “omit other heritable factors not yet discovered and they don’t generally incorporate family history, which is a powerful predictor” of health risks, he said. The tests also don’t take into consideration environmental risks.

“These are very early days for these kinds of predictions to be made,” said Collins, former director of the National Human Genome Research Institute.

Nonetheless, there’s public interest in personal genetic tests, which can be used as a guide. Collins—initially skeptical—wanted to have the experience. A couple of months following the tests, he got an email saying that he could log in to see his results on the Web.

Among other things, Collins was interested to see if each company would deliver a similar result of his genotype, given that his DNA should not be different based on where or to which company he sent his sample. Sure enough, each of the three genotyping companies delivered similar results in his genetic makeup, indicating that the genotyping procedures appear “to be highly accurate,” Collins said. He found the websites generally well-designed, and that they provided “mostly solid information”; the genetic testing companies did not over-promise how the results could be used.

On the other hand, Collins found big differences in how much information was provided in the genotyping reports. Some companies gave details, such as carrier status for diseases, non-medical traits, and ancestry, and other companies did not.

What to make of the results? Collins also found substantial differences in how the genetic tests were interpreted, and said that companies should “get together on this” so as to not confuse consumers. Part of the problem could be that the scientific literature is changing so quickly that it’s hard for companies to keep up, he said.

All websites recommended interventions according to the genetic tests, Collins said. But will people alter health behaviors based on a test? At least in Collins’s case, he did. His test showed him to be homozygous for the most significant Type II diabetes risk factor, a disease he studies in his lab. Collins was surprised by the result, because the disease is lacking in his family history. The test “was a motivator to do some of the things that I should have been doing all along,” he said.

Collins started an exercise program and lost 20 pounds. “There’s something about this information that does get your attention,” he said.

Molly McElroy

14 December 2009