Last week we solicited your questions for Anne Wojcicki, co-founder of the “personal genetics” company 23andMe. Among your interesting questions: are 23andMe’s genetic results taken seriously by doctors? Should children have the procedure done? Will insurance companies engage in genetic profiling?
Thanks for the good questions and to Wojcicki for the compelling answers.
Have you had any situations where a person finds out they have relatively recent ancestors of a race that they were unaware of? If so, have any reacted badly? — Corey
We know that quite a few people find surprises about their ancestry through 23andMe’s service. One customer with extensive knowledge of his European paternal ancestry discovered that his maternal line traced to a Native American woman. He tracked down paper records that revealed a “mulatto woman” about seven generations back. Native American ancestry makes some sense given that his ancestry traces to the southern U.S. While he was excited about this new information, his 93-year-old mother was far less positive and remains skeptical! Quite a few African Americans have discovered that their paternal line traces to Europe. Although many African Americans may be aware that they have some European ancestry (the average is about 20 percent), some discover that close to 50 percent of their ancestry traces to Europe, and this can take some getting used to.
Let’s say one takes that test and is predisposed to a certain disease. There are always two sides: the qualitative (as in way of life) and the statistical. Has anyone done any research using both approaches simultaneously — by monitoring people who have had these tests and looking at lifestyle changes, the specific impact on life span and other particulars (like the diseases and the level of seriousness of the health problems they incur, etc.); and have they also done statistical work to see the results in a general perspective? — Science Minded
Your question is an important one. There haven’t been very many studies that look at the long-term effect of having one’s personal genetic information because widespread availability has been so recent, but these studies will be important to conduct to get a good sense of how access to this kind of information might help to engage people to be more active in their health. There have been some short-term studies on attitudes toward health and genetic information. For example, the NIH Multiplex Initiative has shown that people who voluntarily undergo genetic testing for multiple common diseases similar to what 23andMe presents are more health-minded than those who do not. And contrary to what some critics have feared, testing participants actually thought that genes played a little less of a role in disease risk than people who chose not to get tested. This result may be due to self-selection of a group health-minded infovores, or it might be because as people learn more about genetics, environment, and health, they are more open to being tested. But we will still need to study if and how people make use of their genetic information.
As projects like yours and the HapMap uncover numerous instances of genetic differences between human groups or races, what is the responsibility of the genetics community when discussing innate differences between races, particularly when a large part of academia is convinced that there are no such differences? — AC
A lot of the difficulty in talking about race has been a lack of agreement on what “race” means. In the past, the idea of pure races also included an ordering of certain races as inherently superior to others. We reject this idea absolutely. However, that doesn’t mean that there are no genetic differences between populations of different ancestral origin. A few of our features use the genome-wide data of reference populations from around the world to trace the origin of pieces of an individual’s genome. Some customers have complex patterns depending on where their ancestors originated. These reference populations aren’t “races”; they’re representative samples of peoples who have lived in a single place for a very long time and have thus accumulated different sets of genetic variants over time.
People don’t want insurance companies screening customers using genetic profiling, but do you think there’s room for insurance companies (public or private) to use services like 23andMe to assist their customers in pursuing preventative measures? People (and regulators) may not want insurance companies to deny coverage to somebody because they’re at a high risk of getting some form of cancer, but they might not mind being encouraged to get checked every year by their insurance company. Do you foresee a future where insurers might encourage clients to get genetic profiles as a cost-cutting measure? — Michael
We get a lot of questions about the potential use or misuse of genetic data by insurance companies, but many people focus on the potential for genetic discrimination. (You can see an FAQ about G.I.N.A., the federal Genetic Information Nondiscrimination Act, and how it protects against genetic discrimination on our website here.)
Your question is one we don’t get as often, and is one we have thought about a good deal. There are significant barriers to making this happen, including a general lack of trust in the motives of insurance companies and the current relatively limited use of genetic information in health care. Still, for me the short answer is yes, I think a future where insurers utilize genetic information in a positive way, to provide improved health care on a personalized basis at a lower per-capita cost, is within the realm of possibilities. Also, under a single-payer system where financial incentives reward better preventive care and insurers don’t profit by excluding riskier individuals, genetic information could be used not only to screen people at high risk for disease, but to better engage individuals to actively participate in their own health care. As the impact of genetic information in making health care decisions is better understood by scientists and physicians and as health care reform with an emphasis on preventive care and individual ownership of health is enacted, this possibility will have an increasing chance of becoming reality.
I think it is easy to see how some of the information that you provide users might negatively influence their lives. For example, they might uselessly worry about increased risks for some diseases when those risks are truly tiny and negligible. Could you please give some examples of how a typical user of your site could use the information you provide to positively influence her life? — Tim
This is an important question to address because we hear a lot of speculation about anxiety people might have when receiving their genetic information. We are not aware of any studies that indicate this concern is a reality. In fact, the REVEAL studies by Robert Green and colleagues, including the latest one published this month in the New England Journal of Medicine, have shown that people who receive genetic information showing increased susceptibility to Alzheimer’s disease did not have significant short-term psychological risks. People showing signs of anxiety tended to show these signs even before receiving their data. This result is consistent with what we have heard anecdotally from our customers. Another recent study by Colleen McBride and colleagues with the NIH Multiplex Initiative showed that people who voluntarily undertook genetic testing for multiple common diseases, similar to what 23andMe offers, were actually more motivated to change health behaviors than those who didn’t take the test. This finding counters criticisms that people will think their genetic information is overly deterministic. But generally, what we hear from customers is that their data is fascinating to them, and while there may be a few things they want to discuss with their physician, there also may not be anything they want to follow up on. Over time, our hope is that as people learn more about genetics and the role it does and does not play, each of us will gain a better understanding of our own bodies and do what we can to positively influence our health through diet, exercise, and/or intervention under the care of our physicians.
Do the results tell how much of a risk a person is at for certain diseases, or do they just show you a list of things you’re predisposed to without any clarification? Also, what is the DNA checked for? Just the basics like Huntington’s or Parkinson’s, or is it based on a health history people fill out? — Megan
23andMe currently carries information for over 100 diseases in total. For some of these, there has been enough research done that we can estimate a lifetime risk; for others we report on the latest research and how it applies to your genetics. We launched with just 13 reports and have been consistently adding reports since then. We do cover an important variant for Parkinson’s risk, and we do not cover the Huntington’s repeat.
Do you find that most people use your services for specific reasons (such as, my father died of a strange disease and I want to know if it’s something I should be worried about) or is it more about curiosity (I want to know about the amazing complexities of my own body)? — Marla
We are lucky to have a very broad range of young and old users with different interests. People use 23andMe for all kinds of reasons, from testing for a genetic predisposition to blood clots to learning which grandparent gave them their blue eyes to testing for Native American ancestry (no more than five generations back though!).
How does the service differ from Family Tree DNA? My family participated in this for about a quarter of the price. The information supplied so far is very interesting. — MB
The main difference between this service and the ancestry component of 23andMe’s service is that we use 600,000 data points from across the entire genome; most ancestry services use only a small subset: the maternal (mother’s mother’s mother, and so on) and paternal lines. This allows us to tell you more about your ancestry than any other company. We can even detect African, European, Asian, and Native American ancestry within the last five generations, no matter who you inherited it from.
As a fellow scientist, I’d like to hear your thoughts on how your work accounts for epigenetic factors. Are you looking at any gene methylation? As we learn more and more, we are finding that it’s not the sequences that are driving many disease states, but rather epigenetic controls than can be modified even in utero. — TJ
We don’t currently look at methylation or other epigenetic factors. We are tracking the interesting work currently going on in epigenetics, and it will certainly become important it in the future. However, there is still a lot to learn about the genetics of disease, traits, and drug reactions, and it’s also where most of the research has been done, so it is where we can provide the most information.
Does 23andMe have CLIA certification? Reading through the other comments, it seems a lot of people believe the reports you generate contain diagnostic information. It also seems that some people believe your scans check for single gene disorders, such as Huntington’s, that are not even SNP based. On that note, some appear to believe that you are assessing all genetic variation. What is your company doing to correct these serious misunderstandings? And what about other ethical/moral dilemmas such as testing kids’ DNA at the request of their parents, especially for adult onset disorders? Aren’t you worried that these kids will grow up to be adults who would rather not know? — Lauren
23andMe contracts the actual genotyping to a CLIA-certified laboratory; we don’t have an actual wet lab at 23andMe. It is true that while the genotyping chip we use includes hundreds of thousands of SNP’s from across the genome, the chip does not cover all possible variations, especially non-SNP’s such as large insertions or deletions. However, we do have a custom chip that presents rare variants not included on off-the-shelf SNP chips, such as the LRRK2 G2019S variant associated with Parkinson’s disease and some observers have overlooked this. We try our best to convey the content of our chip on our website; the details are all there.
Regarding genotyping of children, we have carefully considered the guidelines issued by groups such as the European Society of Human Genetics. In general, we try to give all customers, including parents, as much information as possible about potential unexpected consequences while letting them take ultimate responsibility for the welfare of their children. The guidelines have generally encouraged discussion of these issues with “competent” children who can provide some form of assent (though not legally binding consent), but they have also acknowledged that it is difficult to describe criteria for “competence.” We have chosen to give parents information and let them decide when, whether, and how to have a conversation with their children.
When do you think it will be the norm for every individual to know his or her genetic makeup at the same level currently offered by your 23andMe service? — Kay
I think in 5 to 10 years it will be standard for individuals to have access to their genetic information. As a result, individual health should improve by virtue of better preventative care as well as tailored treatments. Perhaps most importantly, the research that this large community of participants will enable will allow us to far better understand the molecular pathways of our bodies.
How does all the snickering from genetic counselors about your site make you feel? Seriously, can you guys come to my medical school and defend yourselves, because they’re really dragging your name through the mud? Doctors aren’t willing to have anything to do with the site, but there have got to be some cases where the predictive power of the results you get is really high. — Joel
While many doctors support 23andMe, individual empowerment application with respect to health information has sometimes been a protracted process in parts of the medical community. Earlier in the 20th century, cancer diagnoses were not shared with patients. Over-the-counter pregnancy tests and anonymous HIV tests both faced numerous hurdles before they got to the public. And with the arrival of the Internet, many doctors bemoaned the kind of information their patients now have access to (at times perhaps with good reason).
Nonetheless, history has come to show that these developments have improved people’s knowledge of themselves allowing them to be more involved in their personal health care. It is now hard to imagine a world where a patient would not receive her diagnosis, have easy access to pregnancy or HIV tests, or have access to the world’s vast online health information.
We believe that genetic information will follow the same course. Already, studies show that individuals with access to their APOE allele (which is strongly correlated with age of onset of Alzheimer’s) are quite capable of handling that information in a healthy way. More importantly, we believe that empowering individuals with their genetic information will lead people to be more proactive about their health and lead healthier lives.
Ultimately, we expect that all medical professionals will embrace individual access to their full genetic information and we would like to be part of that evolution.