Consumers who want to find out about their genetic health risks without going to the doctor and paying a hefty price may have to wait. For a while, personal genetic tests were becoming more affordable and informative. But the industry took a blow last year when the government cracked down on Mountain View company 23andMe.
That was the last consumer gene testing company still offering health information after two years of federal efforts to regulate the industry. Unlike other companies, many of which folded or sold, 23andMe is working with regulators to come back to the consumer genetic health market.
A Passion for Consumer Genetics
On a recent Thursday evening at the California Academy of Sciences in San Francisco, the star of the show was not the giant T-Rex skeleton in the lobby but a small-framed, energetic Silicon Valley entrepreneur speaking about personal genetics.
"I want to ask this audience, how many people have ever had a genetic test?" said Anne Wojcicki, CEO of 23andMe.
Of about 150 people in the audience, some 30 people raised their hands.
"So my goal is in the next ten years that every single one of you would raise your hand," Wojcicki said.
Wojcicki said since 2007, more than half a million customers have sent in a saliva sample and gotten information that included their risks for developing cardiac disease and breast cancer, as well genetic traits such as how fast they metabolize caffeine. But last November the FDA ordered 23andMe to stop sales of its $99 tests.
FDA to 23andMe: Stop Selling Gene Tests
The FDA said, in a very public letter, that the company's test kit was a medical device that needed to be regulated and that 23andMe failed to prove it was interpreting health results accurately.
Wojcicki said the ruling has hit her company hard. "As a result, we have had to stop offering our healthcare service, and it's had a significant impact because it's one of the main things people think about when they think of their genetic information, is that they want the health interpretation."
So now, 23andMe is working with the FDA in an effort to once again be able to offer health information. Meanwhile, the company can still provide ancestry information, which is already a crowded field.
Hank Greely directs the Center for Law and the Biosciences at Stanford. He said dwindling sales will impact the company’s efforts to build a sizable research database—and that's important to its business strategy.
"For those customers who agree to it by signing a somewhat opaque consent form," Greely said, "they can sell that information to pharma and bio, but without lots of new customers coming in that service becomes less attractive to pharma and biotech."
Some have criticized 23andme for considering selling anonymized data. But Wojcicki is unapologetic.
"23andMe partners with those companies because those are the people who are making therapies," she said. "And if we want to get better therapies for breast cancer, and you want to get better therapies for asthma and migraines and all kinds of the other conditions that impact our lives, we have to work with pharma companies."
Big Data May Lead to Medical Breakthroughs
And here's where consumer genetics isn't just about the consumer. All that genetic information, or big data, can be used to run studies in search of medical breakthroughs. That means any company that wants to stay at the forefront has to keep up with the changing science.
In your human genome you have an entire set of 23 human chromosomes, made up of, among other things, DNA building blocks called base pairs. The human genome is composed of 3 billion base pairs.
Right now consumer gene tests take tiny snips of less than a million base pairs to look at one person’s unique genetic blueprint. Each of these unique variations is called a snp (yep, pronounced “snip”), for "single nucleotide polymorphism."
The Future Lies in Sequencing the Whole Genome
But a snp is just a fraction of the entire genome. Scientists say the key to the future of genetics lies in sequencing the whole genome.
"We know that the world has been quite focused on getting the so-called thousand-dollar genome," said Vance Vanier, vice president of reproductive and genetic health at San Diego-based Illumina. The company has just unveiled a system it claims can sequence a human genome for $1,000. That’s a big drop from the nearly $3 billion dollar price tag to sequence the first genome in 2003.
"I think the story of the next five years is to see that affordability spread more and more to broader segments of society and to clinical laboratories specifically," said Vanier, who was CEO of an early consumer gene testing company called Navigenics.
And while he believes genetic testing will continue to be done primarily through medical professionals, he said he still sees a place for consumer gene tests. After all, Vanier said, there was a time home pregnancy tests had to be done in a doctor’s office. Now people can even buy over-the-counter HIV tests.
"I think the pattern you see," Vanier said, "is as information gets better understood and as there are more social safeguards around it to protect from a misuse of it, then there is increasing comfort of how it can evolve into the consumer market."
And so the debate continues between those that believe accessing your DNA has become a basic right and those who believe gene tests are better left to a doctor.
Since this story published, 23andMe officials confirm they are considering selling their gene tests in markets outside the U.S. after facing hurdles with the FDA.