November 25, 2015

With a few drops of saliva, an Internet connection and $199 — anybody can order up a personalized DNA analysis to find out about their family tree and the risk of passing down diseases to their children. All with the official blessing of the Food and Drug Administration.

The DIY genetic testing company 23andMe is back. It’s been two years since the FDA issued a warning letter ordering the company to stop selling its health reports, citing concerns over accuracy and customer confusion. Skeptics predicted the crackdown would squash the audacious Google-backed start-up or reduce it to a glorified ancestry service. But 23andMe CEO and co-founder Anne Wojcicki was determined that her enterprise would rise again — no matter how long it took.

“I became very zen after we got our FDA letter,” Wojcicki told Yahoo News and Finance Anchor Bianna Golodryga. “People used to say, ‘Sell the company.  You could do this, you could do that to try and get around it. “But 23andMe is a company that is in it for the long haul, and we are about truly trying to transform the health-care industry.”

By many measures, they are making big strides. This year, 23andMe announced it had accumulated more than 1 million customers and a giant DNA database that’s spawned major research partnerships as well as a new drug-development business.

“This huge community of customers that we have has really turned into an incredibly powerful research engine,” said Wojcicki. “Based on all of our understandings of the genomes, can we actually then develop treatments for the world that are based on this genetic data? And can we do it that much cheaper and that much faster? Can we revolutionize that entire process?

And last month — after two years of working to prove the science behind their technology — 23andMe launched with great fanfare the first and only FDA-approved direct-to-consumer genetic testing. It does not test for the 254 diseases the company once did, but rather three dozen genetically straightforward “autosomal recessive” conditions, such as cystic fibrosis, that two parents could pass down to their children.

Wojcicki said people should be able to get their DNA information directly, without having to go through a doctor or genetic counselor. But critics say this kind of genetic screening is potentially inaccurate and even dangerous — especially because of the high rate of false-negative findings.

“Fifty-one percent of Asians who are carriers of cystic fibrosis will not be found on this test to in fact be carriers,” said Robert Klitzman, director of the masters of bioethics program at Columbia University “The test is also less predictive for African-Americans and for Latinos than it is for Caucasians or white people. So people need to understand that the tests may not be 100 percent accurate.”

Klitzman is even more concerned about the more complicated genetic analysis that 23andMe once did and hopes to offer again soon: using DNA to predict an individual’s  risk of contracting serious diseases such as breast cancer or diabetes.

Part of the problem, Klitzman says, is that 23andMe testing does not sequence entire genomes, but only looks at selected snapshots of DNA, which he says is like trying to understand a book by reading the first letter of every chapter. But a more fundamental issue, he says, is that the science behind genetics is very complicated and DNA is only one of many factors in people’s health.

“For most common diseases we get sick because of a combination of genes and other factors, So heart disease, for instance, or even depression — we know may be even, perhaps, 50 percent genetic, but 50 percent is other stuff — what we eat, our diet, how much we exercise.”

Klitzman says people who are concerned about their health should do DNA testing through a doctor or genetic counselor who can understand and contextualize the results.

But that advice that would not have helped people like Lara Diamond, a genealogy buff from Baltimore who says she never would have thought to ask her doctor for genetic testing, nor does her insurance cover it. Even after tracing 4,000 members of her family, Diamond said she never come across any history of breast cancer.

“When I tested with 23andMe, I was really only doing it for the ancestral component, and the health stuff I kind of viewed as a bonus,” said Diamond, who signed up in 2013, before the FDA crackdown effectively ended the disease-risk reports. “If I hadn’t taken 23andMe, I would not have known I had a BRCA mutation. I wouldn’t have even had a mammogram, let alone the MRI, which ended up catching my cancer at such an early stage.”

Today, after several surgeries, Diamond is cancer free, and her relatives have also been screened for BRCA mutations. “For me personally, it was huge. For my family, it was huge as well,” she said.

Wojcicki says the company is working through the regulatory process to get FDA approval to bring back BRCA testing and the other disease reports.

“Those are coming,” she said. “They’re just going to take time.”

As for now, she is encouraged by an emerging wave of new consumer health-care companies.

“There’s a ton of potential innovation here. And we’re just on that cusp,” she said. “It’s like a desert right now, and Vegas is eventually going to be built.”




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