Leave 23andMe alone: the FDA should stop obstructing consumer-driven genetic testing.

• Author: Bailey, Ronald
• Position: Columns - Column

In November the Food and Drug Administration (FDA) warned the direct-to-consumer gene testing company 23andMe to stop marketing its $99 genotype screening test. The FDA's letter gave 23andMe 15 days to respond, warning that if the agency didn't like what it heard, the potential results could "include, but are not limited to, seizure, injunction, and civil money penalties."

Two weeks later, evidently to fend off further regulatory ire, 23andMe announced that it was suspending its Personal Genome Service for the duration of the FDA's review process. There will be no new DNA-testing customers until the federal government says it's OK.

The FDA worries that purchasers of 23andMe's personal genome services will do something dangerously stupid in reaction to what they learn. The letter suggested, for example, that customers could be misled by the results of a test for BRCA breast cancer genes. "If the BRCA-related risk assessment for breast or ovarian cancer reports a false positive," the agency argued, "it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist."

Researchers around the world use the same biochip that 23andMe employs--the Illumina OmniExpress--and find that it provides highly accurate results. Still, all diagnostic tests produce false positives and false negatives, so the question becomes: What is unique (and uniquely dangerous) about patients obtaining this information through 23andMe?

First of all, the company clearly states on its website that it screens for only three of the more prevalent BRCA breast and ovarian cancer mutations, and emphasizes that there are hundreds of potentially carcinogenic mutations in the BRCA1 and BRCA2 genes for which it does not test.

But suppose a customer tests positive for one of the BRCA mutations. What is she likely to do next? FDA bureaucrats seem to think she will immediately search for a surgeon to remove her breasts or start gobbling tamoxifen pills to ward off cancer. But those scenarios are ridiculous. The most likely outcome is that the customer would first consult with her physician about the results and then get another, more comprehensive genetic test. That is exactly what Huffington Post blogger Jill Steinberg did when her 23andMe results came back showing that she carried one of the BRCA mutations. Her subsequent test...