July 10, 2014

23andMe and the FDA: Spit and Genomes

The genetic testing company 23andMe is back in the news as it tries to repair its rift with the Food and Drug Administration. That battle has been framed by some as a struggle between individuals' rights to their own health information and the paternalism of the medical and government establishments. Others consider the FDA's action a necessary precaution as we begin to explore the exciting possibilities of genetic testing.

23andMe is an intriguing company with a fascinating history. It has used genetic testing technology to identify genetic markers associated with specific diseases and conditions. Its customers mailed a test tube containing their saliva to the company, which then analyzed their DNA. For $99, they received a report detailing risks for more than 240 health conditions. The idea was so revolutionary that in 2008 Time magazine named it "invention of the year."

The Start Up
The history of 23andMe revolves around Anne Wojcicki. As a young analyst on Wall Street, she had been frustrated that our wealthy country failed to provide its citizens even the most basic medical needs.

She became able to do something about it when she moved to California in 2006 to be with her boyfriend, Google co-founder Sergey Brin. She became convinced that Silicon Valley could help solve our health system's inability to really deal with diseases.

At a TED conference in 2006, she met Linda Avey, an acquaintance of Brin's and a longtime Biotech executive. The two hit it off and ended up pitching the idea of a DNA profiling company to Google, which invested $3.9 million in the start up. Genentech and other Valley firms signed on.

They dubbed the company "23andMe" for the number of pairs of chromosomes in a human cell. Wojcicki believed the widespread availability of the spit test would improve the relationship between health providers and patients -- giving consumers control over their own destinies like never before.

Wojcicki also thought that collecting genetic information from so many people would enable scientists to decipher DNA patterns and thus create cures for countless diseases.

A Fairy Tale Ends
Brin and Wojcicki were married in May 2007 and have a son and daughter. They've been viewed as the Silicon Valley's "golden couple."

Friends nicknamed them "the twins," because they seemed in sync about everything from the future of technology to their unconventional wedding -- a secret ceremony where the bride is said to have worn a white swimming suit and the groom a black one. They swam to a sandbar to exchange their vows.

Their fairy tale ended this year when the news leaked of Brin's affair with a colleague who was working on the Google Glass project with him. Here are Brin's lover, Wojcicki, and Brin -- all sporting the fancy eyewear:

Amanda Rosenberg (left), with Diane von Furstenberg and Sergey Brin at New York fashion week. The British lover of Google co-founder Sergey Brin started her affair with him after befriending his wife, it emerged yesterday
Correction: The woman in the middle is Diane von Furstenberg. Here's Brin and Wojcicki in happier days:

Brin, 40, pictured with his wife Anna Wojcicki, also 40, in 2008: One of the journalists who broke the story for U.S. technology website All Things D is the partner of a Google executive who is a close friend of Miss Wojcicki
Brin and Parkinson's
Shortly after the company was set up, Brin volunteered as an alpha tester for the spit test. Wojcicki was shocked to discover he carried the LRRK2 gene associated with Parkinson's disease. She tested Brin's mother and found that she had it, too.

Wojcicki and Brin have contributed more than $150 million to the Michael J. Fox Foundation. Together, 23andMe and the Foundation identified more than 12,000 people with LRRK2 gene -- people who are willing to answer survey after survey about everything, from how much they sleep to environmental hazards near their home. Scientists hope this data may lead to a breakthrough.

Wojcicki heard about another gene she believes may protect against Parkinson's disease and moved to patent it. The company faced widespread criticism when the news came out in May 2012 that the patent had been granted.

Problems with FDA
In 2010, the FDA notified several genetic testing companies, including 23andMe, that their genetic tests are regarded as medical devices and therefore require FDA approval to market them. (FDA approval was not required for genetic-testing companies that work through doctors and genetic counselors.)

23andMe applied for approval and began meeting with the FDA. Last August, the company began running a compelling national commercial in which attractive young people explained that for $99 you could learn "hundreds of things about your health," including whether you "might have an increased risk of heart disease, arthritis, gallstones...." It was the centerpiece of the company's campaign to sign up one million consumers. The commercial's headline was "change what you can, manage what you can't."

On November 22, after not hearing from 23andMe for six months, the FDA ordered the company to stop marketing its Saliva Collection Kit and Personal Genome Service. The company worked out an agreement with the FDA to continue selling the tests, but only providing raw genetic data and ancestry information, not health reports.

Since then, stung by a slowdown in new customer sign-ups, 23andMe has been talking regularly to the FDA, eager to craft a submission that would secure government approval.

Last month, after seven months in the FDA penalty box, 23andMe took the first step toward getting back in the game of providing health reports. It submitted an application for a health report that would provide its customers an assessment of their risk of Bloom syndrome, a rare inherited disorder associated with short stature and various cancers that often cause patients to die in their mid-20s. The FDA agreed to accept the submission, starting a process for a 90-day review period, during which the FDA could come back asking  more questions and adding further requirements.

23andMe has a long and winding road ahead of it. Its initial submission was for one report on a rare disease, far less than the 200+ assessments it provided before the warning letter. This first application is likely to take many months... if it gets approved at all.

Approval could also carry restrictions, especially concerning diagnostics about diseases like Alzheimer's or breast cancer that might upset or confuse people. It's possible the FDA might require such tests to go through a doctor or genetic counselor first. That would be a blow to Wojcicki's vision of providing consumers direct control of their genetic information and thus their own healthcare.

Needless to say, the FDA's action has evoked heated comments pro and con. One of the more balanced pieces I saw was a commentary published in New England Journal of Medicine. Here's the concluding paragraph:
Because of the company's aggressive marketing and refusal to resolve outstanding data issues, the FDA was right to issue a warning to 23andMe. The resulting marketing shutdown provides the opportunity for serious dialogue that could be a basis for setting standards not just for 23andMe, but for the entire industry. 23andMe, for example, makes the consumer's raw genetic data derived from the DNA sample accessible to the consumer, something all biobanks should do. It could also be a catalyst for creating a regulatory framework for whole-genome–sequencing platforms, which are the future of genomics. As the cost of such sequencing continues to fall, millions of people will probably have their genomes sequenced. That will turn out to be the easy part. The difficult part will be, as it is today, the clinical interpretation of an individual's genome and the making of useful recommendations to the patient–consumer. Put another way, the heart of this debate is not the cost of the sequencing (or SNP testing), but rather whether the information produced can be used in ways that improve our health. We think that the goal of the FDA and 23andMe (as well as all clinical geneticists, testing laboratories, and the entire genetics industry) should be to ensure that genomic information is both accurate and clinically useful. Clinicians will be central to helping consumer–patients use genomic information to make health decisions. Any regulatory regime must recognize this reality by doing more than simply adding the tagline on most consumer ads for prescription drugs: “Ask your physician.” That is insufficient guidance unless your physician has ready access to a clinical geneticist or genetic counselor.
Here's a link to a talk (warning: nearly an hour long) by Anne Wojcicki on the future of genetics in our everyday life.
We are not alone in exploring the vast possibilities of genetic testing. Earlier this year, The New Yorker ran a report by Michael Specter on the genetic testing being done by China's BGI, formerly known as the Beijing Genomics Institute, the world's largest genomics research center.
Even though 23andMe is limited by its agreement with the FDA to providing only ancestral results from its genetic testing kit, I ordered one just for the hell of it. I spit into the test tube yesterday and sent it off. I'll get back the raw data on my genetic makeup but without any analysis of what it might show about my prospects for coming down with specific diseases.

I'm sure I'll report more in future about this intriguing, ever-evolving subject.

1 comment:

denise said...

Is there someone who will interpret the raw genetic data for you? Someone like your doctor? I would be interested in doing the same. Keep us posted...