How a Wiki Is Keeping Direct-to-Consumer Genetics Alive

When Meg DeBoe decided to tap her Christmas fund to order a $99 consumer DNA test from 23andMe last year, she was disappointed: it arrived with no information on what her genes said about her chance of developing Alzheimers and heart disease. The report only delved into her genetic genealogy, possible relatives, and ethnic roots.

Thats because just a month earlier, in November 2013, the Food and Drug Administration had cracked down on 23andMe. The direct-to-consumer gene testing companys popular DNA health reports and slick TV ads were illegal, it said, since theyd never been cleared by the agency.

But DeBoe, a mommy blogger and author of childrens books, found a way to get the health information she wanted anyway. Using a low-budget Web service called Promethease, she paid $5 to upload her raw 23andMe data. Within a few minutes she was looking into a report with entries dividing her genes into Bad news and Good news.

As tens of thousands of others seek similar information about their genetic disposition, they are loading their DNA data into several little-known websites like Promethease that have become, by default, the largest purveyors of consumer genetic health services in the United Statesand the next possible targets for nervous regulators.

After the FDA crackdown, consumers are trading information on where to learn about their genes. Dont let the man stop you, said one.

Promethease was created by a tiny, two-man company run as a side project by Greg Lennon, a geneticist based in Maryland, and Mike Cariaso, a computer programmer. It works by comparing a persons DNA data with entries in SNPedia, a sprawling public wiki on human genetics that the pair created eight years ago and run with the help of a few dozen volunteer editors. Lennon says Promethease is being used to build as many as 500 gene reports a day.

Many people are arriving from directly from 23andMe. After its health reports were blocked, consumers complained angrily about the FDA on the companys Facebook page, where they also uploaded links to the Promethease website, calling it a workaround, a way to get exhaustive medical info in reports that are similar, but not as pretty. The mood was one of civil disobedience. Dont let the man stop you from getting genotyped, wrote one.

The FDA is being cautious with personal genomics because although DNA data is easy to gather, its medical meaning is less certain.

Consumer DNA tests determine which common versions of the 23,000 human genes make up your individual genotype. As science links these variants to disease risk, the idea has been that genotypes could predict your chance of getting cancer or heart disease, or losing your eyesight. But predicting risk is tricky. Most genes dont say anything decisive about you. And if they do, you might well wish for a doctor at your side when you find out. I dont believe that this kind of risk assessment is mature enough to be a consumer product yet, says David Mittelman, chief scientific officer of Gene by Gene, a genetic laboratory that performs tests.

In barring 23andMes health reports, the FDA also cited the danger that erroneous interpretations of gene data could lead someone to seek out unnecessary surgery or take a drug overdose. Critics of the decision said it had more to do with questions about whether consumers should have the right to get genetic facts without going through a doctor. Its an almost philosophical issue about how medicine is going to be delivered, says Stuart Kim, a professor at Stanford University who helped developed a DNA interpretation site called Interpretome as part of a class he teaches on genetics. Is it going to be concentrated by medical associations, or out there on the Internet so people can interact?

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How a Wiki Is Keeping Direct-to-Consumer Genetics Alive