By Diane Anderson-Minshall
Originally published on Advocate.com October 30 2012 12:00 PM ET
In the 1997 film Gattaca, Ethan Hawke’s character attempts to circumvent the genetic screening that is the basis of contemporary life. When Vincent Freeman (Hawke) is a newborn baby, a routine heel-tap blood test reveals his entire medical future — a rather far-fetched scenario, but one that speaks to concerns about the role of authenticity, science, and technology in today’s fast-paced global environment.
The future is upon us, and the genetic testing being done now can reveal the past as much as it illuminates the future. The first wave of LGBT consumers who embraced it did so to find out about their ancestry. But as testing organizations, particularly 23andMe, the largest and most popular DNA analysis service, grow their databases, consumers are learning many more things about their lives, including which medications they’re likely to have reactions to, whether they have the gene thought to confer immunity to HIV, or — soon — if there’s a genetic root to their sexual orientation.
How it works is simple: Customers buy a saliva kit online at 23andMe.com, send it in, and the company extracts their DNA from cheek cells preserved in saliva. In its labs, 23andMe then copies the DNA many times until there’s enough to be genotyped. Then, says lesbian scientist Emily Drabant, the DNA is examined for tens of thousands of genetic variants linked to various conditions and traits, and within weeks users get more than 100 reports on diseases, more than 50 reports on traits, more than 40 reports on carrier status, and more than 20 for drug response.
Drabant, who has a Ph.D. in neuroscience, joined 23andMe three years ago. “I came on board to manage our Parkinson’s research, which at the time was one of our largest research projects,” she says. Though she works on all brain disease research, including healthy cognitive aging, boxing and head trauma, and Alzheimer’s, she’s proud of the Parkinson’s research in particular, because of the results. “We now have one of the largest cohorts of Parkinson’s patients, genotyped patients, in the world — over 9,000 people with Parkinson’s. And we identified two new genes associated with Parkinson’s, which is really exciting.” By having such a large study group, Drabant says, 23andMe was able to explore the genes versus environment question as it relates to the disease. “Within that, we found that, in the part that’s genetic, we know less than 10% of the genes involved. So I think it’s very exciting that there’s still a lot left to discover.”
Indeed, as LGBT consumers have used 23andMe to obtain their genetic background, they’ve found plenty of information that is specific to their needs, like cancer risks, HIV resistance and likely progression rate, medication complications, whether they’re prone to substance abuse, who their genetic ancestors are, and whether they are carriers for diseases that put children at risk. For soon-to-be biological parents, screening for these factors can cost $1,000 per test at a typical medical lab; with 23andMe, a couple hundred bucks tells you the results of dozens of tests, such as that for Tay-Sachs. The company can even tell you if that double venti latte is likely to give you a heart attack.
“We’ve taken great care to make genetics understandable to a lay audience, because it’s really complicated,” Drabant says. “So one of the ways we try and do it is by using pictures. We often call these the Waldos.” The Waldos are really a pictogram of 100 people with Waldos, so called because of the similarity to the Where’s Waldo? character. A first set of Waldos demonstrates the frequency of the disease or condition in the population, while a second set shows the frequency of the disease in the population with a specific genetic factor. This helps illusrate the impact a genetic factor has on overall risk of a disease. “So if you have increased risk, you have many more Waldos colored in.”
The most commonly requested test, Drabant says, is for sexual orientation, a particularly controversial area. “I think it’s been hard for groups to get funding to pursue it,” she says. “And maybe also taboo for various research groups to really focus on. So I think that the 23andMe platform is really conducive to doing research on sensitive topics because people are providing information anonymously from home. But that’s the request that came up again and again and again: ‘Can you study sexual orientation? Why aren’t you studying sexual orientation?’ So we were really excited to launch a study in that area.”
The company initiated its sexual orientation project about six months ago, and researchers are hoping that tens of thousands of LGBT folks take the genetic test and fill out the accompanying survey — the information from which allows 23andMe to see patterns among, for example, gay men or transgender women. They don’t know what they’ll find around gender identity yet, says Drabant, but “those are exactly the questions that we’re studying. We asked people about how they identify, including transgender male-to-female, female-to-male, and I think we kind of ask a question more broadly about identity, in terms of masculine and feminine.” Several thousand people have participated in the survey so far, though few identify as transgender.
As soon as the company has a big enough sample, it plans to make those results public, regardless of where they lead. “It’s a hot, sensitive topic,” Drabant says, “and I think that, no matter what comes of it, if we find genetic associations or if we don’t, [reaction] will be pretty heated. Our objective is to be objective. We feel that this is research that needs to be conducted, that’s neglected, that’s important to do. And that we’re in a position to do it.”
She says more and more people are taking their test results to their doctors to incorporate into care plans, particularly risk factors and increased sensitivity to particular medications — information that can save lives. Drabant says that while some older physicians might not have had genetic training in medical school and thus find the information to be outside their normal practice, many physicians would like to incorporate 23andMe directly into their work.
“Doctors see the value in having the complete genetic picture as part of their medical profile,” Drabant says. “My speculation is that, in the next five to 10 years, we’re going to see that grow and grow because the utility of genetic information will become greater. We’ll make more discoveries about genes related to drugs and conditions. And my hope is that physicians will get more training in how to interpret and work with genetic information.”
So far 23andMe has heard from people whose lives have been saved thanks to the information in their genetic tests as well as adopted children who have found their biological families (one function of the ancestry part of the tests allows you to see other users who are biologically related to you — almost everyone will find fifth or sixth cousins). Researchers have made some discoveries on the lighter side — like if you’re likely to grow back hair or whether cilantro will taste like soap to you — and, Drabant adds, “then we have findings about Parkinson’s, rare blood cancers, and myeloproliferative neoplasms.”