The company that takes your spit sample and sends you a report on your genetic makeup—your DNA-based risk for diseases like Alzheimer’s and mental illness and more—is back in business. In 2013, 23andMe stopped analyzing people’s DNA for medical conditions after the Food and Drug Administration (FDA) determined the company lacked the proper approval to give people potentially life-altering information about their health. 23andMe maintained the information in its reports was not meant to be diagnostic, just informative and educational, but the FDA disagreed, and the company pulled its health-related genetic testing services.
Nearly two years later, 23andMe is offering its genetic disease profiling services again, albeit in a scaled back way (and at a higher price—$199 vs. the $99 it marketed previously). Your genetic information now gets categorized into four buckets: carrier status, wellness, traits and ancestry. The carrier status tests are greenlit by the FDA; testing for them doesn’t require approval because they only detect whether a person harbors, or carries, the variant for a particular condition without actually having the disease. That list now includes 36 conditions for which you can inherit versions of disease-linked genes from one parent or another but still be healthy. Only when two people who are carriers decide to have a baby is there a 25% risk of that baby developing the disease.
Some of those conditions are well-established gene-based disorders such as cystic fibrosis and sickle cell anemia, while most are more unfamiliar—like Nijmegen breakage syndrome and rhizomelic chondrodysplasia punctata type 1. All of them are conditions for which there is solid scientific evidence—at least three scientific papers published in the scientific literature, in fact—that the genetic variation is linked to the condition.
That’s the minimum requirement from the FDA for supporting the validity of 23andMe’s test for genetic conditions.
The FDA’s other concern related to how people were interpreting the company’s results. Some people found the reports confusing and misinterpreted the presence of a genetic variant that is simply linked to a disease with a definite expectation of developing the disorder. The company had to present a plan for testing such comprehension among its customers that required streamlining the online reports it returned to people and presenting the information in a more straightforward and direct way as risk factors, not causes of disease.
“When we got the letter from the FDA, it was definitely a setback,” says Anne Wojcicki, co-founder and CEO of 23andMe. “Without a doubt, there was a disconnect in communication and definitely mistakes made. But I’m happy we are able to come onto the market with this product.”
The return was presaged by the FDA’s approval of the company’s first report on a gene-based condition, Bloom syndrome, last February. Bloom is linked to short stature and a higher than average risk of developing cancer if people inherit two copies of the affected gene.
The company’s disease-based genetic information, which was the hallmark of the company’s services, are now just one part of a broader set of profiles the company returns on what your DNA reveals about you. Also included is wellness-related information on four features: how likely you are to like caffeine, whether you’re lactose intolerant, if you tend to get red and flushed when you drink alcohol and your what your muscle composition is like. These are features that can influence your behavior, says Brad Kittredge, vice president of product at the company, but aren’t necessarily considered diseases. “We wanted to make clearer a set of traits that are health-related but not clinical, that have to do with behaviors but we wouldn’t call disease.”
There are also a set of nearly two dozen traits that are dictated by genes—back hair and bald spots, light or dark hair, unibrows and widow’s peak among them—for which your status might already be quite obvious but you can now explain with your genes. Ancestry information is also a continued part of the company’s genetic analysis, including a breakdown of the percentage, by genetic makeup, of different racial and ethnic groups in your background.
How useful is having such information? “There are definitely some people who are information seekers, who want to know as much information about themselves as they can,” says Joy Larsen Haidle, president of the National Society of Genetic Counselors. “But there are nuances that go along with any test result.” She points out, for example, that while some carrier conditions may not actually cause the disease, they may be associated with a slightly higher risk of certain cancers. There is conflicting evidence that even carriers of the Bloom syndrome variant, for example, may be at higher risk of cancer. Without a trained genetic counselor interpreting the results, consumers may not only be unaware of that possible and unexpected risk, but have a harder time making sense of the conflicting studies about that risk.
While Wojcicki is confident that consumer demand for direct testing of their DNA will continue to grow, she’s also balancing those services with a growing demand for the genetic data that 23andMe has generated from its 800,000 customers. In January, she signed a $10 million partnership with Genentech for access to a portion of the genomic information coming from people at higher risk of developing Parkinson’s disease. Dozens more such deals are expected, and in March, 23andMe created a new therapeutic group whose mission is to turn all that genomic information into drugs.
But the core of that database are the customers who generate the genetic information, which is why returning to market is a huge milestone for the company. “This is a great first step forward, and I definitely think there will be more to come,” says Wojcicki.