After his son was diagnosed with celiac disease, Jon Rowley, who has two other kids, discovered he wasn’t a carrier for the disease by accessing his personal genome report online.
In 2009, David Hale went on a clandestine mission across the border. He took the Metro from his home in Frederick to Dupont Circle in Washington, D.C., and picked up a colorful cardboard package from his friend. Later, sitting in his car in a post office parking lot, he unpacked a small test tube, spit into it and sealed the package. Then he walked inside the post office and mailed his sample to 23andMe, a genetic testing company in California.
Four weeks later, Hale, 42, who is adopted and did not know his family medical history, accessed his personal genome report online. It listed his genetic risk for developing diseases, from asthma and high blood pressure to bladder cancer and Parkinson’s, as well as his risk of passing on inherited conditions to any future children and his likely reaction to medications.
But Hale, who works in public health, was more interested in his genealogy than his risk of disease. Having been told he was Native American on his mother’s side, he had worked on reservations and led health projects for tribes. He clicked on the ancestry section of his report first.
“I remember seeing this big graph and it said zero Native American DNA,” he says. “It was a moment of spiritual crisis. It was like somebody yanked the rug out from under what I thought I was.”
This is life-changing information, and yet Hale had to go through a cloak-and-dagger routine to get it. As a Maryland resident, he couldn’t have his 23andMe kit sent to his house. A local regulation and a state law prevent Marylanders from directly accessing their genetic data as it pertains to health. Maryland is one of only two states with such restrictions on 23andMe’s services. (Hence Hale’s trip to D.C.)
“It’s very upsetting,” he says. “If patients [are] more aware of their current conditions, it helps prevent more serious conditions down the road. It’s all about raising the level of knowledge among the public.”
Direct-to-consumer (DTC) genetic testing—DNA tests that people can take at home—may be the wave of the future. Still in its infancy, the industry is projected to reach more than $230 million by 2018.
At the end of last year, it also became affordable: 23andMe, the company co-founded by Anne Wojcicki, wife of Google co-founder Sergey Brin, dropped the price of its testing kits to $99. (Tests from other DTC genetics companies, such as vuGene and the Genetic Testing Laboratories, can cost hundreds of dollars or more.)
The price drop came after 23andMe received $50 million in funding. One of the company’s main investors is New Enterprise Associates (NEA), a global investment firm with locations in Chevy Chase and Timonium.
Patrick Chung, partner at NEA and lead investor in 23andMe, says that now that DTC genetic testing is cheaper, “you can see how someday it could be delivered into the hands and pockets of every consumer out there.”
To date, 250,000 people in the United States have sent in their spit for analysis to 23andMe. In return, they can access nearly 250 reports detailing their genetic risk for health conditions, physical traits and drug response. People can share the results with their doctors, and use them to make lifestyle changes and family planning decisions.
With a goal of reaching 1 million customers by year’s end, the 7-year-old 23andMe is pushing toward a future in which DNA testing is common. “Not having your genetic information would be like not having your blood pressure or cholesterol checked,” says Joanna Mountain, the company’s senior director of research. “It [would be] just part of the information that physicians turn to when they are trying to make a diagnosis or help you in a preventive way.”
But for Marylanders, it’s not so easy. State law requires laboratories to be licensed here in order to perform health-related tests, according to the Maryland Department of Health and Mental Hygiene (DHMH). New York has a similar law.
There’s also a local regulation that says laboratories cannot perform health-related tests without authorization from a doctor or other medical professional. In short: Maryland consumers can only
access their own genetic information if someone else requests it.
“It may be time to change that,” admits Dr. Laura Herrera, deputy secretary of public health services at the DHMH. Several members of the Maryland General Assembly have shown interest in allowing DTC genetic testing, and new legislation will likely be drafted for the next legislative session in January 2014, she says.
But genetic counselors—a growing group of master’s-trained professionals who specialize in educating people about genetics and performing risk assessments—still have concerns about DTC genetic testing.
Jessica Rispoli Joines, a genetic counselor with the School of Medicine at the University of Maryland, Baltimore, says that people can have an emotional reaction to learning they have a greater genetic risk of developing serious health conditions—especially when they can’t do anything about it. “My job is to help the patient process that information and work through some of those emotions that come with getting bad news,” she says.
Joines uses the example of patients who find out they have a greater risk of getting breast cancer. “[There may be] feelings of anxiety or guilt that they may have passed that gene on to their young adult daughters,” she says. So she brainstorms with these patients about the best ways to talk about their results with their families. Hale did feel panicked after finding out he is not Native American. But, he says, he doesn’t regret taking the test. And, after clicking on his health report, he made some lifestyle changes. He began paying for more spacious seats on airplanes in response to his 35.8 percent risk of getting blood clots—more than 20 percent above the average risk. “I don’t want to be the dude who dies on a plane,” he says. A former five-plus-cup-a-day coffee drinker, Hale also cut down to two cups because he is a slow metabolizer of caffeine, which can cause heart attacks. And for other diseases, like Alzheimer’s and Parkinson’s, he had the choice of “unlocking” his results. (On the 23andMe website, users must navigate through three or four dialogue boxes that say things like “Are you sure you want to see these results?” According to the company, more than 70 percent of customers unlock their results for at least one test.)
But Joines points that these test results may be misleading or may over- and underestimate a person’s risk for certain diseases. “If it says there is nothing to worry about, they could potentially put too much stock in that result,” she says.
There’s also the potential that the same person may receive different reports from different genetic testing companies. In other words, someone could have an elevated risk of developing Alzheimer’s with one company and a lower risk with another. “[These companies] are looking at a handful of genes that they’ve chosen to look at,” Joines says. “That’s why, from lab to lab, a person can get a very different risk assessment.” And none of these tests take into account other contributors to disease, like the environment. In her work, Joines addresses environmental factors in her risk assessments and orders single gene analysis tests for one disease at a time, such as breast cancer.
Still, Judy Russell, a New Jersey genealogist with a law degree, says Maryland’s policy amounts to “paternalistic involvement by the government.” Russell’s 23andMe test told her she has a higher risk of developing coronary heart disease and Type II diabetes—results she could easily understand. “We’re reasonably intelligent, educated adults, and none of this is rocket science,” she continues. “Somebody with a Ph.D. in biochemistry who lives in Maryland can’t take this test. How does that make any sense at all?”
Although Maryland may someday allow DTC genetic testing, Herrera says that the state will take precautions to develop legislation that “ensures consumer protections” and addresses “any potential public health impacts.” “We’re doing our homework,” she adds.
For now, Maryland residents are finding that the state regulation and law are somewhat easy, if inconvenient, to get around. Residents can simply have their kits sent to D.C. or to one of the 48 states without restrictions on 23andMe’s services.
That’s exactly what Catharine Robertson, an Internet architect from Baltimore who was adopted, did earlier this year to learn more about her ancestry. She had her kit shipped to a friend in Virginia and received her results weeks later. Other than discovering she is 3 percent Neanderthal— those who want to proclaim their early species DNA can even buy T-shirts to do so—Robertson learned that a friend, also an adoptee who urged her to take the test, is actually a distant relative.
“We share five segments of DNA,” she says. But what that means “is the $54,000 question.” To help understand her results, Robertson joined the “Adoptees” forum on 23andMe, one of the company’s “rabbit hole of forums where people can basically start their own discussion about anything,” she says. Here, Robertson also has learned how she can find more relatives.
Other Marylanders are more interested in the health aspects of 23andMe’s test. Jon Rowley, a Walkersville entrepreneur with a Ph.D. in biotechnology engineering, was diagnosed with Type I diabetes, usually a childhood disease, when he was 32. Several men in his family also died from heart disease in their 40s. In 2011, when he wanted to know his risk factors for developing these diseases, Rowley was 39. But what pushed him to send for the $250 test—23andMe’s price at the time—was his son Shai’s diagnosis of celiac disease. Rowley has two other kids and wanted to know if he was a carrier. He had his kit shipped to his mom in Michigan; she mailed it to him in Maryland. He then shipped his sample to 23andMe from a Maryland post office.
In his report, Rowley found out he is not a carrier for celiac disease and has no dramatic cardiovascular risk factors. He also has a lower than average risk for Type I diabetes. “It showed that the Type I diabetes that I got was more environmental, [and] it gives me peace of mind that I won’t pass it on to my kids,” he says.
Doug Nordman of Oahu, Hawaii, a former U.S. Navy trainer, wishes that these tests had been available before he had kids. Nordman’s mother died from breast cancer; his grandfather and father were diagnosed with dementia and Alzheimers’ respectively. He wanted to know the likelihood his 22-year-old daughter would develop the same diseases.
After 23andMe’s price dropped, Nordman had a “spit party” with his wife and daughter in their living room. Several weeks later, he found out he is a carrier for cystic fibrosis. His daughter doesn’t have the disease, but her results showed she is also a carrier.
“Even today, I feel like a little genetic bullet whizzed by my head,” he says. “If I had known that before getting married or having children, I would have been much more informed and would have been able to make a decision about starting a family. It would be nice to know these things before becoming a parent.”
Instead Nordman told his relatives about being a cystic fibrosis carrier, including his cousin-in-law, Camilla Maybee. She is planning on having children within the next five to 10 years. Earlier this year, when they were Colorado residents, Maybee and her husband took the 23andMe test; as of May, the couple was living in Baltimore and still waiting for their reports. “I think it’s good to know what you might pass on,” Maybee says about her potential results.
“I don’t want to accidentally give my child a debilitating illness.”
But Maybee, an Army medical officer for eight years, also had her own reasons for taking the test. In June 2012, nine months after she returned from a yearlong deployment in Iraq, she was diagnosed with severe depression. She wondered why she got this illness while others didn’t. She didn’t find out that depression is in her family history—her grandmother and her aunts had symptoms of it—until this March.
Maybee says that knowing her genetic predisposition to depression beforehand might have helped her doctors treat her. “It [also] would have helped me sort of understand what was going on,” she adds. “When it comes to my health, I don’t like surprises.”