Gene test mix-up brings scrutiny to industry

Last week, retired marketing specialist Nora Probasco called her brother with a half-serious, half-joking question: Was she adopted?

The issue came up after the 59-year-old genealogy hobbyist from Louisville, Ky., received the results of a test she took through 23andMe, a Google-backed firm that allows people to learn more about their ancestry and some medical conditions through DNA analysis.

"I was shocked," she said. "What it came down to, the way I know to read them, is that my mom is not my mom."

To her relief, it turned out to be a mistake. Last Friday, the Mountain View firm acknowledged in a post on its Web site that it mixed up the samples of 96 clients and sent them the wrong ones. The company corrected the mistake relatively quickly, but observers see the potential for similar errors that could lead individuals to make ill-informed decisions regarding their health.

The company, which was founded in 2006, said in an e-mail that the mistake occurred when a tray with 96 samples was misplaced. The company added that new procedures have been established to prevent similar blunders in the future.

"Providing each and every one of our customers with accurate data is 23andMe's number one priority, and we fully realize the gravity of this incident," the statement said.

Young industry

The error (which was committed by LabCorp, 23andMe's contracted laboratory) has become an embarrassment for the company and the relatively young industry of direct-to-consumer genetic testing. Mired by economic woes and in the crosshairs of federal regulators, 23andMe and other genome companies are sure to attract more attention because of the incident.

Jesse Reynolds, a policy analyst at the Center for Genetics and Society, a nonprofit research and advocacy group, said mistakes such as this one would have been spotted by a doctor or genetic counselor, whom he believes should be made responsible for delivering genetic test information to avoid the risk of people making potentially harmful decisions about their health.

"Here you have people who might be altering the dose of their drugs not only without the involvement of their doctors, but also possibly based on inaccurate results," he said. "I'm hopeful that the FDA will step up and treat these (tests) as the medical products that they are."

Regulation debate

But advocates for the responsible use of emerging genetic technologies see the incident as a minor disruption. Some clients affected by the mix-up, including Probasco, have stepped up to defend 23andMe and the state of the personal genome industry.

Probasco said she didn't want a barrier of physicians and genetic counselors to come between her and her genetic data. She believes 23andMe and its clients are capable of detecting mistakes by self-policing the results.

"Some are trying to make (the data) go through a physician instead of having it delivered directly to the consumer, like we can't handle the data, when in fact we're the ones who caught" the mistake, she said.

CeCe Moore, a 41-year-old television producer from San Clemente (Orange County) who was also affected by the mix-up (her niece's results indicated her ancestry was 69 percent African when the rest of her family tested 100 percent European), is also opposed to excessive regulation.

Genetic tests "would be cost-prohibitive if everyone had to get a prescription from doctors and get genetic counselors to take a look at them. Who can afford that anymore? It's taking away power from consumers and putting it where it's always been," she said.

Criticism, controversy

The sample mix-up came at a time when criticisms and controversies seem to be raining on the young industry from every side.

Last month, genetic watchdog groups criticized UC Berkeley for asking incoming freshmen to submit samples of their DNA and participate in what is believed to be the largest genetic test conducted by a university.

Also in May, a short-lived partnership between San Diego genetic testing firm Pathway Genomics and Walgreens to sell over-the-counter saliva tests came to an end when the Food and Drug Administration raised questions about the unregulated products.

Shortly afterward, a congressional panel asked Pathway, 23andMe and Foster City competitor Navigenics to submit information about the processing procedures they use.

Personal genetic test firms have operated mostly free of regulation for the better part of their existence, and advocates fear that government intervention will overburden the ailing industry.

Icelandic personal genetics firm deCode, a pioneer in the field that was founded in 1996, filed for bankruptcy in November. And 23andMe, despite being backed by Google (23andMe co-founder Anne Wojcicki is married to Google co-founder Sergey Brin), laid off workers in October.

Luxury item

The industry's misfortunes have been caused by a combination of factors. Observers say the health and medical insights provided by genetic tests are still rather limited. And in the midst of an economic downturn, tests that range in price from hundreds to thousands of dollars have proven a tough sale for the average consumer. The price of 23andMe's tests run from $399 to $499.

"Right now, gene tests are seen as a luxury item, so people who are struggling to pay off their mortgage are unlikely to invest in them," said Daniel MacArthur, a British researcher who writes the blog Genetic Future.

However, he said, the field is an immensely promising one that has the potential to revolutionize the health industry, and he hopes the 23andMe episode will not attract disproportionate scrutiny that could hinder its progress.

"This incident was a stumble, but it's not an indicator that the industry is failing. I hope that regulators recognize that and don't use this as an excuse to institute excessive regulation," MacArthur said. "I think that approach would do serious damage to the future of personalized medicine."

E-mail Alejandro Martínez-Cabrera at amartinez-cabrera@sfchronicle.com.

This article appeared on page A - 1 of the San Francisco Chronicle