How Do People React to Personal Genetic Information? Themes From the American Society of Human Genetics Meeting

During his presentation at the annual meeting of the American Society of Human Genetics (ASHG), National Institutes of Health Director Francis Collins was open about his genotype at the TCF7L2 marker associated with diabetes, noting that he has the “riskier” TT genotype.  Such openness about personal genetic information is consistent with a trend towards increasing comfort with personal genetic information. That trend was in evidence at the ASHG conference, which was attended by more than 7000 scientists, physicians, students and exhibitors.Several studies presented at the conference focused on reactions people have to receiving personal genetic information.  One study, conducted by David Kaufman and colleagues, was based on a survey of customers of 23andMe and two other companies.  The following four themes are among a number that emerged from the presentations and discussions:1) People want to be able to decide on their own whether genetic information might be useful to them, rather than have an expert decide for them. Some participants in the ASHG meeting questioned the value of obtaining personal genetic information.  They argued that while some genetic tests are predictive, many tests have not been proven to lead to better clinical outcomes. Several scientists, however, have argued that personal utility (a subjective measure) is more relevant than clinical utility (where cost and clinical outcomes are used to calculate utility).  Scott Roberts noted that the personal utility of genetic information may take the form of increased awareness of disease/health risks, more informed health planning, psychological relief, or simply the feeling that “knowledge is power.”A few of the studies presented at the meeting suggest that people do find value in personal genetic information, even when it isn’t highly predictive. When David Kaufman and colleagues at the Genetics and Public Policy Center at Johns Hopkins University asked customers of 23andMe, Navigenics, and DeCodeMe about their motivations for purchasing a personal genome service (PGS), curiosity was high on the list (followed by health concerns related to medical issues in family members).  Ninety percent of customers reported that their curiosity was satisfied, and less than 2% were unsatisfied with the overall personal genome service they had received.In a separate study, S. C. Sanderson of Mount Sinai School of Medicine surveyed 131 college students who smoke, and found that even though the students understood that a GSTM1 variant associated with lung cancer risk is not highly predictive, they were nonetheless interested in obtaining their genotype for that variant.  These preliminary results suggest that there is interest in a broad array of genetic information.2) Customers of direct access personal genomics services (PGS) generally understand the results they are receiving. A question in the minds of many is how well consumers understand personal genetic information.  David Kaufman and colleagues found that when they presented PGS customers with hypothetical sets of results for two different individuals, 93-95% of the study participants correctly interpreted the results. Furthermore, advanced education was not a prerequisite for — nor a guarantee of — understanding; people without college degrees understood the information more than 90% of the time, and people with postgraduate degrees still made mistakes. A study of individuals participating in the Coriell Personalized Medicine Collaborative (CPMC) conducted by Barbara Bernhardt of the University of Pennsylvania reached similar findings. While 23andMe is excited that these preliminary findings show that people generally understand their genetic information, we are constantly striving to improve how we communicate this information to customers.3) Early studies indicate that people are not overly anxious about the personal genetic information they have received. The REVEAL study, which celebrated its 10th year at the ASHG meeting, has gathered extensive data regarding emotional responses to personal genetic information, finding that there is little difference in anxiety levels between people who learn that they have a genetic variant that puts them at higher risk of Alzheimer’s disease and people who learn that they do not. However, this study focused on a single genetic variant, involved relatives of individuals with Alzheimer’s disease, included presentation of results in person or via telephone, and excluded individuals who had a history of anxiety or depression, and so results may not extend to direct access personal genome services.In contrast, in the study conducted by Barbara Bernhardt and her colleagues, individuals received results for multiple genetic variants associated with multiple diseases, where participants were not selected for having a particular family history.  The researchers found that no participants in this study reported being overly concerned about their risks based on genetics. While small, this study is among the first to evaluate emotional responses to results from a set of multiple genetic tests associated with multiple disorders.4) Many customers of direct access personal genomics services are motivated to make positive changes in health-related behaviors. The study conducted by Barbara Bernhardt and colleagues found that about a third of the participants who received personalized genetic risk information responded by making a positive change in health-related behaviors. Most were making small changes such as exercising more. Most of those who said that they weren’t making changes said they felt that they were already doing the right thing.  Similarly, the study conducted by David Kaufman and colleagues found that about a third of PGS customers were being more careful about their diet, 15% had modified their intake of medications or supplements, and 14% were exercising more.  The REVEAL study found evidence of increased exercise in response to communication of both Alzheimer’s disease risk and cardiovascular disease risk associated with a specific genetic variant.At a press briefing about these findings, a reporter asked the panel of scientists if people were wasting money on direct-to-consumer genetic services.  Bernhardt replied that if people’s curiosity is satisfied, and if people are making positive changes in health-related behaviors, then that is a good outcome.  Kaufman added that 90% of the PGS customers in his study responded that the service was worth the price.  And Andrew Faucett of Emory University, who spoke separately on oversight of genetic testing, replied that if the service helps people start a conversation with their physician, that’s good.In summaryThere is still much to be done in terms of better understanding how people interpret personal genetic information and what factors influence their reactions.  For instance, the jury is still out on whether or not obtaining personal genetic information leads to improved health-related behaviors in the long term.  But the early studies reported last week at the ASHG meeting are an exciting step towards that understanding.
  • Dave Kaufman

    Hello Joanna,

    Just a couple of comments. We certainly have seen that the public perceives there is personal utility in learning one’s genetic information. Benefits that don’t directly improve health outcomes may be worth considering when evaluating genetic information returned to healthy individuals. However, we would not argue, and our data does not support (nor positively refute) the idea that the personal utility of these data is more important to people than the clinical utility.

    Second, it should be made clear that our data about people’s behavioral changes represent self-reports at one moment in time 2-8 months after they received their results, and do not serve as clear evidence that lasting changes and accompanying health benefits result from getting tested. Our data do suggest that there is reason to be optimistic that getting such information may be a motivator for some people to adopt healthier lifestyles. Well designed longitudinal studies will be needed to see whether this optimism bears fruit in the form of improved health indicators.

  • Joanna

    Thank you for your comments, Dave.

    With regards to utility, I think there is an assumption that people consider genetic tests with well-established clinical utility to be of value, since the definition of clinical utility includes positive health outcomes. However, this utility is difficult to establish, in part because utility is context dependent so that extensive studies are needed to determine whether a person in a particular situation will see an improved health outcome. Therefore an important question is whether or not people find value in personal genetic information even when the clinical utility has not (or not yet) been established. As you note, we are starting to see evidence that many people are finding value in personal genomic information even when the clinical utility has not been established.

    I look forward to the future studies that will address both the utility question and the question of long term behavioral changes on the basis of personal genomic information.

  • Z.Song

    Agree with the personal utility. It’s important because sometimes it gives people a REASON to overcome, to hold on some behaviors, even to force other people they care to quit, to culture some habits. In order to convince a love to quit smoking, a particular reason (carrying risk allele) for that individual is more powerful than a general knowledge (smoking might case lung diseases).

    Customers are not highly educated in biology and genetics. Some of them don’t even know what genetic information is but they do have their way to test if they can trust the service and the information. Here is a funny but real story. A guy bought the PGS from a company for both himself and his brother and send back two samples of saliva. Later on the company found out that one of sample is not the guy’s brother, not even a human being. The saliva sample belongs to a dog, apparently the guy’s pet. The company contacted the guy and asked why he played such a prank on them. Surprisingly, the guy was very happy about what the company figured out and eventually trusted their service. No matter how many selling talks and education lectures, the genetic information is still brand new product for most customers. The information is so magic that it’s there but you cannot touch it or feel it. The guy used his own way to test the company, maybe an unreasonable and ridiculous way, but how can we blame him. The information is highly asymmetric between the customers and the experts. And the situation won’t change for many years.

    Overly anxious study doesn’t have to be true always. People may act normal after receiving their personal genetic information for quite a while until one day they hear someone close to them who shares the same risk allele as them being diagnosed as cancer or died. In real life, I personally know a husband blames his wife to bought him the PGS after his father died due to the liver cancer. My point is that customers don’t remember how they act normally but can’t forget when they are worried and anxious. In the case of this husband, every time when he talk about the PGS, he repeats and sometimes even exaggerates the struggle he had to draw attention or sympathy during conversations within family or with friends. The company should and must help customers to prepare some emotional impact moment. Otherwise, there will be a lot of living, talkative, persuasive and endless worst advertisement walking around.

    Direct-to-consumer genetic services are not the only experts in the genetics testing field. If PGS can’t cooperate in some way with the clinical physicians or members of ASMG and get positive feedbacks from them, it’s hard to earn trust from majority. We can say that PGS companies focus on helping health people to predict potential diseases in the future, and clinical genetic tests help patients to make right medical decisions. They are serving different groups of people and different marketing issues. But if most clinical experts don’t have positive opinions on PGS, the wasting money augment is going to be floating in media forever.

    I personally believe in the future of PGS. ASHG 2010 was a really fun party full of information. There are a lot of things to do and many people to cooperate with in the genetic field.

    So, go 23andMe, GO!

    btw: forgive my language who is not a native-speaker

  • Joanna,

    Nice post. Thanks.

    My impression from ASHG is that direct consumer access to genomic data is still a bit countercultural, at least in the Society, but there is not strident, strong opposition to it, and some sense that in the end a “right” to your genomic data will out. What needs to happen to make that right meaningful, however, is only just begun. It would mean incorporating rights to access into studies, and strong standards on what data is sent back to consumers–formats of what gets stored in digital form, so that the data can be shared in a meaningful sense–but also practices that ensure it is *not* shared in ways that violate consumer rights.

    And to make the information meaningful, it will also have to link to ancestry data, genealogical data, medical records, and information relevant to other personal interests. Seems to me that’s where the conversation has to shift–to implementing the principle of a right to access, and developing the standards.