Direct-to-Consumer Genetic Testing: A New View

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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: 23andmeNavigenics 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.

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12 Responses to Direct-to-Consumer Genetic Testing: A New View

  1. Dave Kaufman says:

    Dr. Lewis, thanks for your interest and coverage of what I thought was a provocative session.
    I wanted to clarify one thing for your readers, about this bit of what you said “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. ” While that is true, we did not ascertain whether or not those actions were appropriate responses to the results people got (because we did not ask what results people got). People did take actions based on their results, but that is not exactly the same thing as the results being “actionable”.

    For example, we don’t know if the diet and exercise changes were appropriate ones, or whether these changes lasted, since we only spoke to people at one point in time. Our data suggest the possibility that DTC test results COULD lead to healthier behaviors and improved outcomes. Robert Green’s PGen study will start to address whether this is so, but one point I tried to make yesterday is that we need a lot more collaborative work to provide evidence on actual health outcomes. Our study did not that reach that far. Thanks again for your interest!

    Dave Kaufman, Genetics and Public Policy Center

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    • A satisfied 23andMe customer says:

      Dr. Kaufman,
      While I’m not a participant in your study or Dr. Lee’s I have taken the 23andMe test and do strive for a healthier lifestyle as a result of the “increased risk” results. I have an increased risk for breast cancer so I’m now diligent about keeping up with annual mammograms.

      In addition, I have an increased risk for VTE and have informed my doctors. I am impressed with the reaction of my doctors when I have shared my 23andMe results with them. They knew all about Leiden Factor V and that I should not take estrogen. This is exactly the best scenario one could anticipate with the benefit of DTC results in a patient-physician relationship.

      My demographic is age 40-50 with no college degree.

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      • Dave Kaufman says:

        Thanks for sharing your experience! It is everyone’s hope that these tests become valuable pieces of information for everyone who decides to get tested.

        All the best,
        Dave

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  3. Janis says:

    Quick comment in reply to: ” … 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.”

    For me, it wasn’t this. I have no husband and no kids, and no desire for them, and mortality is sort of a “whatever” thing for me. Yet in my 40s, I started to realize, as I suspect many people do, that all those old folks in the family photos had not been “old folks” for their whole lives, but had in fact been no different from me. It’s not something one realizes until one is nearing that age or can visualize oneself at that age.

    It wasn’t my own future in a pine box that compelled me to learn about my DNA. It was my past, all those people in my past who are now residing in pine boxes, that suddenly became very interesting. The 40s is when one begins to see the past in a new light. One’s grandparents become people, one’s great-grandparents also become people who were once in their teens and 20s.

    That’s a bit different from just angsting about mortality. It’s just the arrival of maturity, along the lines of seeing a picture of your teenaged mom wearing a bikini in a photo album hanging off the arm of an equally teenaged guy who isn’t your dad, and it hits you — mom had a life before you came along. :-) I guess so did Grandmom, Grandpop, and everyone who came before them did, too! And pretty soon you’re scraping your cheek to learn more.

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  4. Ricki Lewis says:

    Janis, that was extremely well said! I had minimal ancestry testing done, which told me I was Ashkenazi from Russia, which I already knew. I spoke at a genetic genealogy meeting that was very interesting. That was back in the day when I thought that this testing needed more regulation, and I was practically booed off the stage. I got over it. But I did hear a conversation from one of the large family groups there about how their patriarch, a man in his late 90s, had his ancestry tested and it came back that he was not in fact related to all of these people he thought were kin. It was deduced that he had been an unofficial adoption, an abandoned baby given a home and identity. The elders of the group decided not to give him those results.

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  6. Tom says:

    Thank you for this article Ricki.
    I had my DNA tested through two DTC companies. My primary reason for doing this was to help me find missing links in my ancestry, but I discovered a much more practical benefit from it.
    I am not a geneticist (studied it in high school) and am not a scientist, but the results from one company alerted me to my Alpha-1 Antitrypsin Deficiency, which explained to me why I experienced symptoms I have always been told were allergies. I informed my doctor about the DNA results and she helped me understand how to better deal with the symptoms. I have undergone numerous allergy tests over the years. They cost me a lot of money (a great deal more than the DNA tests), but the pills, injections and drops under my tongue, in my opinion, produced mostly imagined benefits. This discovery has allowed me and my doctor to directly address at least one underlying cause of my respiratory problems with distinct, positive results. If I hadn’t gotten the results from the test I acquired from DTC testing, I would still be taking medications which only minimally helped my condition.
    Tyrants want to dominate and control knowledge and information and the access to it. The tyrants of the past are gone now, and we don’t hold them in higher regard because of what they did, so why would we try doing it again? The suppression or “control” of knowledge can never work very long as knowledge can’t be contained and does not belong to any one person, entity, or regulatory agency. If you want to remain the leaders in the field, get out in front and lead. Don’t stand in the way.
    People who want to learn about a subject automatically remove themselves from the “general population” and place themselves into a more unique group. That’s why one can’t apply a broad brush, based on the general population, to people who actually want to know. Everyone reading this, scientist or not, falls into that category in some area or another, and none of you want to have someone else tell you what you can or can’t investigate and what you can or can’t know.
    Consider that most people don’t care about their DNA and won’t test for it. Those that do test want to know. They made the effort to test it and they will make an effort to understand it. Don’t underestimate the little guy — you were in that category yourself at one time.

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  7. Thanks, Tom, I’m glad you figured out your problem when your doctor could not! I think your anger may be a little misplaced, though. I don’t consider myself a “big guy.” And if you read last week’s blog, it was all about an individual’s right to know or not know their genetic information. I’m fine with anyone knowing anything — as long as there is no coercion.

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    • Tom says:

      I apologize if I didn’t write that very well. I was agreeing with you and not being angry at anyone. I interpreted your article to indirectly say that people should have access to their data, and that’s what I wrote also. The things I wrote about folks standing in the way are directed at people who want to stand in the way (though there surely must be some “reasonable” regulation to keep people from being cheated or taken advantage of).

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  8. Shane says:

    Great article. I too have found an issue using 23andme and it has been the best investment I’ve made so far in my life. Initiatives like SNPpedia will change healthcare and put pressure on physicians to up their game beyond what are in some cases basic functional tests and head scratching if the patient doesn’t respond to the first 1 or 2 choices of pills they decide to prescribe.
    One point and not directly related. Scully called herself a “scientist” on the X-Files because she has a Bachelors of Science degree in physics according to the show’s lore & was somewhat of an expert on the physics of time travel. The show’s creators didn’t confuse physician with scientist.

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  9. Ricki Lewis says:

    One of the X-Files writers was a grad student in the same lab where I did my graduate work — at Indiana University — and the “Cher” episode was based on the research on homeotic mutations in Drosophila that we were immersed in. That lab, like so many others, churned out scientists with PhDs. You needed a bachelor’s degree to get into the program, but I believe most jobs hiring scientists look for a PhD plus usually postdoctoral research. So I didn’t consider Dr. Scully a scientist because she didn’t have a PhD. It isn’t a matter of snobbery, that’s just the way it is in the hierarchy. I jumped ship, not doing a post-doc, so I don’t consider myself a scientist — just someone who writes about it.

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