San Francisco — On a Thursday night in October 2007, I sat with hundreds of geneticists at the American Society of Human Genetics annual meeting in San Diego, so stunned that we ignored the free dessert. At a table in front of the crowd were several very nicely-dressed physicians and genetic counselors representing a trio of companies gearing up to offer, in the coming year, direct-to-consumer (DTC) genetic testing.
Yes, ordinary people would be able to send samples of themselves – spit, it would turn out – to companies that would charge fees to return results right to them, circumventing health care professionals. The companies had names much catchier than those of the biotech companies of the past two decades: 23andme, Navigenics Inc., (absorbed into Life Technologies Corp last summer), and deCODE Genetics, part of Icelandic biobank fame.
We were collectively shocked, and in retrospect, I’m not sure why. But the chatter in the hallways and elevators afterwards, according to my unscientific survey and memory, was decidedly negative.
What a difference half a decade makes.
I’m at this year’s annual meeting of the American Society of Human Genetics, where another panel of DTC genetic testing company reps are fielding questions. But this time, the audience is asking about expanding DTC services to more diverse communities.
What’s changed? The DTC companies have proven their value.
After the first DTC testing companies began offering their services in April 2008, the media took notice. It was a great story. For me, the lowpoint of the derision was the New Yorker’s Talk of the Town piece extolling the hilarity of “spit parties.”
The popularity of the testing grew. A cottage industry of sorts arose as bioethicists and social scientists soon began to survey customers and dissect their characteristics, motivations, and use of the information.
For example, median age of the DTC genetic test consumer is the 40s. My interpretation: once people have settled down a bit, moved out of their parent’s homes, gotten jobs, maybe have kids in school but not yet college, they naturally start to think about how they will kick the bucket. And here were companies offering to look into a genetic crystal ball, without even the need to bleed.
Geneticists, much more familiar with human decrepitude, had more serious concerns about testing put directly in the hands of potential patients. But doubts have been fading. “Concerns over genetic testing are often disproportionate to the reality,” Tanya Moreno, PhD, Director of Research and Development at Pathway Genomics, said on the panel today.
Here are a few of those initial fears, and the realities that have come to pass:
FEAR: Customers’ private genetic information would be compromised.
REALITY: People are blogging, tweeting, emailing, and facebooking their intimate genetic information with abandon.
Sandra S-J Lee, PhD, Senior Research Scholar from the Stanford Center for Biomedical Ethics, spoke about a survey of 80 23andMe customers that probed social networking and personal genomics. They did phone interviews, surveys, and focus groups. Nearly half of them had announced their results on Facebook, and more than 2/3 had gone online to find another person with a shared condition – and that was from 2009, when fewer of us were permanently attached to our devices.
FEAR: DTC customers will focus on stupid stuff, like earwax consistency and bitter taste.
REALITY: 23andme assembled 3,426 cases and 29,624 controls to track down two new genes that contribute to Parkinson’s disease, much faster than would have been possible in academic medicine. That’s hardly frivolous. It’s crowdsourcing science, and although a self-selected sample, it works.
FEAR: Customers won’t know enough or be afraid to share important information with relatives who may be affected by a discovery.
REALITY: Customers learning they have a mutation in the BRCA1 or BRCA2 cancer risk genes indeed told their relatives. “One of the most surprising things was the extent to which people shared the information with both male and female family members. And there was a lack of extreme anxiety,” shared Joanna Mountain, PhD, Senior Director of Research at 23andMe.
FEAR: Customers would have to pay outrageous fees.
REALITY: The opposite has happened. My student L.W. took the 23andme test for the 3 most common BRCA1 and BRCA2 mutations shortly after her mother was diagnosed with breast cancer. 23andMe’s test told L.W. she hadn’t inherited her mother’s mutation – and also that she’s of Ashkenazi Jewish ancestry, something that her parents had hidden. And she spent about $100 – not the $3400 that Myriad Genetics charges to sequence the genes. L.W. and her mom contributed their DNA to the Parkinson’s disease project.
FEAR: Physicians don’t know enough to interpret many new genetic tests.
REALITY: That’s still somewhat true, for some physicians who rarely encounter genetic conditions or need to explain them. David Kaufman, PhD, Director of Research and Statistics at the Genetics and Public Policy Center at Johns Hopkins University, reported on a survey of 1,046 customers of 23andMe, Navigenics, and deCODE, conducted from January through May 2010. The top three reasons to take the tests were curiosity (94%), to learn about future diseases (91%), and to learn about ancestry (90%). Choosing DTC genetic testing following doctor recommendation was at the bottom of the list (7%).
Communication is a big part of providing care for a patient with an elevated risk of developing a genetic disease. Disconnects happen. “In one case a physician rated himself as doing an excellent job of explaining results. But the family was completely blown away. They didn’t understand anything,” said Cinnamon Bloss, PhD, Director of Social Sciences at the Scripps Translational Science Institute in La Jolla.
Perhaps the public expects too much because they confuse physicians and scientists, especially because some professionals are indeed both. The equating of “doctor” with “scientist” possibly dates to physician Dana Scully on the X-Files constantly calling herself a scientist.
“As a group doctors lack requisite knowledge in genomic medicine. Educational efforts are underway to bridge this gap,” Dr. Bloss said, perhaps referring to the first Master of Science in Genomic Medicine offered at the Miller School of Medicine at the University of Miami.
FEAR: The information from DTC genetic testing won’t be “actionable.”
REALITY: Dr. Kaufman’s survey of satisfied DTC customers found that 34% adopted a more healthful diet, 16% changed a drug or supplement, and 14% exercise more. Plus, 43% sought additional information on at least one tested condition, 28% discussed findings with a health care professional, and 9% followed up with additional lab tests.
FEAR: The companies will take advantage of their customers.
REALITY: “We’re thinking differently about the people who take part in research. We’re moving from calling them ‘human subjects’ to considering them to be collaborators and participants in research,” said Dr. Mountain.
23andMe regularly updates their participants on research findings pertinent to test results, pursues suggestions for new tests from the customers (such as sexual orientation), and publishes articles with participants in open access journals.
With consumers on board, scientists seeming to have accepted DTC testing, and doctors having to keep up with their patients who come in with test results, I think DTC genetic testing is here to stay – and poised to explode with exome and genome sequencing.