TOP

Genetic Testing Continues to Emerge in the Direct-to-Consumer Market

Salt Lake City—Practical use of genetics has long seemed to exist in only in the world of science fiction. Superhero movies tell us that gene-splicing is as easy as getting bit by a spider, or that finding criminals is a breeze with the help of DNA evidence (always conveniently found, always instantly analyzed.)

While reality still does not measure up to the promises of Hollywood, the field of genetics is quickly becoming more and more accessible to the average layperson. Ever since the Human Genome Project was declared complete in 2003, many have been waiting breathlessly for the next step in genome therapy—personalized medicine on a whole new level.

Companies like 23andMe are trying to give people a chance to take a look at their own genome—for idle curiosity, medical knowledge like health risk factors or carrier status, ancestry information, pharmaco-genetics (i.e. learning whether a drug is more likely to work for you, depending on your genetic makeup) or wellness. How does it work? Order a kit, spit in a tube and mail it back to the company. The saliva is analyzed, and then in six to eight weeks, the company emails you with a report regarding your DNA.

“At 23andMe, it’s our mission to help people access and understand the human genome,” said Scott Matthews, vice president of business development, wellness at 23andMe, during his keynote address at the Utah Healthcare Solutions Summit.

Matthews showed an example of how such a service could work for a consumer—a patient who used 23andMe discovered she had a higher likelihood of being lactose intolerant, thereby solving a nearly 40-year-old mystery as to why she would get intermittent stabbing pains in her stomach. Matthews himself found he has a genetic variation that makes him more susceptible to a higher BMI than others if he eats saturated fats.

This knowledge, said Matthews, empowers people in various ways. First, it allows people to make decisions about their health—diet in some cases, family planning in the cases of those who find out they are carriers for particular diseases. Second, it gives people a platform upon which to interact with the science of genetics and understand it better. As the field develops, that base knowledge makes for a better-informed population base.

The regulatory environment for genetics, like the field itself, is still in a state of evolution. The FDA, said Matthews, is firm that medical diagnostic elements of the test go through a physician rather than be placed in the hands of consumers. For instance, 23andMe has the capability to perform a BRCA1 & BRCA2—commonly known as the ‘breast cancer’ genes—test, but the FDA will not allow the company to reveal that information to its consumers.

“We did [BRCA testing] before the FDA sent us a warning letter. We had to drop it from the product. If we’re able to get clearance form the FDA, we’d have it back in our product,” said Matthews. “The FDA prefers if this goes through your doctor. … We have the technology, it’s just working with the system. If you’re going to be a direct-to-consumer company, you have to play by the rules. If you don’t, you don’t exist. We’re trying to bring as much as we can to the consumer right up to that line.”

“We know that there’s an opportunity for harm. There’s a genetics Wild West out there,” he added.

Matthews said that study results so far claim that genetic testing does not lead to people undergoing unnecessary treatment. With personalized results regarding their own wellness, more people take action in the form of diet and exercise.

Still, this “Wild West” does lead some consumers to be wary. While, legally, employers and medical insurance companies can’t use your genetic information discriminatorily, life insurance companies don’t yet have that restriction upon them. 23andMe does also bio-bank all of its samples to do future research on and analyze trends, hoping to find breakthroughs.

“When we combine genetic data, really important discoveries can be made,” said Matthews, who claimed that 80 percent of the 23andMe user base consents to have their saliva used for research, and that 75 percent take surveys answering questions about themselves. The company now has 425 million surveys to draw from.

“With the powers of big data, you can start looking for patterns. One example was recently published where we found15 genetic variants that are associated with depression. It opens up potential,” he said.

Still, Matthews said that 23andMe is committed to user privacy, and does not even share its information with criminal databases. “We are going to have a bias on the side of the consumer and the protection of that information because it’s so personal and private,” he said.