Getting a genetic test is easy; knowing what to do with the results is not. Catharine Wang wants to turn information about disease risk into positive action.
It was the genetic revelation that grabbed global headlines: actress Angelina Jolie’s public disclosure that she had undergone a double mastectomy after testing positive for a rare mutation of the BRCA gene that put her at risk of developing breast cancer.
As the media scrambled to cover all the angles—her mother’s death from ovarian cancer at 56, the impact on her family, her aunt’s subsequent death from breast cancer—Catharine Wang, associate professor of community health sciences, was quick to put Jolie’s decision into a larger genetic context:
“You’ve got all these people out there, dealing with this new frontier of genomic sequencing. They can be like Angelina Jolie, with a clear family history and a BRCA-1 variation, where the decision to take action can save their lives,” says Wang. “But usually, it’s not that simple. Patients may not be obviously high or low, in terms of risk—they’re kind of in a gray area. What do they do with that information; how do they process it?
“I’ve never believed that genetic testing is as easy or straightforward as some people might make it out to be. I’ve seen the ‘deer in the headlights’ look too many times.”
Wang, a behavioral scientist and expert in public health genomics, has spent more than a decade watching the genetic-testing market explode, to the point where consumers can now buy a $99 kit to find out if they or their offspring are at risk for several dozen health conditions. A 2012 study by UnitedHealth Group, Inc., estimated that spending on genetic testing could more than triple by 2021, from about $5 billion to beyond $15 billion annually. And that was before the Supreme Court’s June 2013 ruling that genes can’t be patented.
“I care about patient outcomes. I’m not so concerned with how scientists come up with the risk estimates—I’m more interested in what patients do with them,” says Wang. She’s not trying to halt the proliferation of genetic testing, but aims to improve the communication and understanding of risk for patients, with the goal of better health outcomes.
“I think if we’re going to be offering that information, we’d better have some idea of how people are going to react to it.”
Beliefs and Behaviors
Wang first noticed the “deer in the headlights” phenomenon 20 years ago, as a graduate student researching her master’s thesis at a clinic in Toronto; there, she watched women being tested for the newly cloned BRCA-1—or breast cancer 1, early onset—gene.
She saw “the gamut of reactions—from women who would fall apart, to women who would discount it completely. A lot of the time, they just didn’t know what to make of the information.”
Two decades later, that translation of information is even more complicated, because genetic testing is not just available only to people with a family history of disease, but—at a price from commercial companies—to a broad population. The emphasis in genetic counseling has been on high-risk patients, not those who have no family history, she says.
“If I were to give you two numbers—one based on behavioral risk factors, and one based on DNA—how do you weigh them?” asks Wang. The rise in genetic testing has increased the odds that people may get conflicting risk information.
Research has indicated that DNA risk information carries great weight for patients—an insight that raises questions about whether its disclosure will lead people to try to mitigate the risk proactively, by making lifestyle changes, or instead will foster a kind of genetic fatalism. In reality, an individual’s chance of contracting any disease typically involves a complicated interplay of genetics and lifestyle choices, with a lot of unknowns. That is the muddle that Wang is trying to navigate, positioning herself in the middle of the doctor-patient conversation to figure out “how to get people to do what we want them to do” to be healthy.
Her work is providing clues about the links between beliefs and behaviors. One study she led found that many women were unaware or skeptical that cancer risk was modifiable through lifestyle changes. A majority of women surveyed ranked heredity as the most important causal factor for both breast and colorectal cancer. Previous studies estimate that up to 38 percent of breast cancers and 45 percent of colon cancers are preventable through healthy eating, exercise, and weight management.
Another study led by Wang suggested that emphasizing a genetic link for obesity may decrease a person’s motivation to engage in weight-management behaviors. In that study, participants who endorsed the notion that obesity is inherited were less likely to report engaging in exercise or healthy eating.
Wang is now spearheading research that tracks how participants respond to actual genetic information, not hypothetical scenarios. In a study funded by the National Human Genome Research Institute, she and other researchers are examining behavioral changes among patients who are told either their genetic risk for obesity, or their obesity risk based on lifestyle factors. The study aims to further the understanding of how people might respond differently to genetic versus non-genetic risk information.
Sharing Results—or Not
Wang is also examining whether people who undergo genetic testing share those results with others, especially their doctors.
Preliminary survey findings suggest that while consumers overwhelmingly talk about their results with family members, a relatively small percentage show them to health care providers. According to Wang, the usefulness of personal genetic information hinges, in part, on the extent to which consumers share the findings with medical professionals.
“The thought has been that the people who take these tests would be more involved in their medical care. But it’s more complex than that,” she says. “We need to figure out what’s behind the decision to share or not share genetic results, and how we can support the people who need it.”
Wang is concerned about a lack of what she calls an “infrastructure” for recording information—for example, the absence of a standardized method for collecting family history information.
During the long-running Family Healthware Impact Trial, she’s helped to evaluate a self-administered, web-based tool that assesses family risk for six common diseases and provides personalized prevention messages. In one study published in fall 2012, she found that people with a family history of certain diseases, including heart disease and diabetes, often underestimated their risk for developing them, even after completing a risk assessment and receiving personalized prevention messages. While patients who used the Family Healthware tool were shown to have an increased risk awareness, their estimates still remained lower than their actual risks.
Wang wants to develop more user-friendly ways of collecting family health history information, to help overcome barriers in literacy and computer skills. She is collaborating with clinicians at the BU-affiliated Boston Medical Center and computer scientists at Northeastern University on a tool that makes use of a computer-animated character to ask questions and record patient information. The goal of the project is to enable a diverse patient population to use virtual counselors to collect family health histories, which could be imported into the electronic medical record.
“Family history is so important,” says Wang. “Figuring out how to collect it, record it, give people a skill set to talk about it with their doctor—it puts them in a position where they can better manage their own care.”
But Should We Do It?
Months after Angelina Jolie’s disclosure, genetic testing is still making headlines worldwide, with some clinics reporting an increase in requests for BRCA testing. That doesn’t worry Wang, who says the test is an important tool for women at high risk of breast and ovarian cancer.
But Wang does worry about the public perception of genetic testing, noting that the media tend to focus more on genetics than on lifestyle factors in discussions of some health risks.
“There are so many factors that may inform a person’s risk,” she says. “For some reason, whether it’s scientists or the media or both, DNA information comes across as so much more important. But if people think that doing X, Y, and Z isn’t going to matter because of their DNA predetermination, we’re looking at a major public health communication challenge.”
Wang advocates for more public education about genetics, especially as the science races ahead, with some researchers now striving to do whole-genome sequencing of newborns. While she applauds efforts to unravel and interpret DNA for disease prevention, she is concerned the public health system isn’t equipped to guide patients.
“Just because we can do it, doesn’t mean we should do it,” she says. “At this point, we don’t have the infrastructure in place to deal with all this information—our primary care doctors aren’t trained; we don’t even have the family history standardized in an easy-to-use format.”
With head-spinning advances in genetic testing, Wang is anxious to help fill the void in knowledge about how to translate that information into positive health outcomes.
“In theory, I think the progress we’ve made is really exciting,” she says. “But if you came up and told me you wanted to sequence my kids? Not a chance. It’s one thing if my child was sick with a rare condition that doctors couldn’t diagnose. But that’s very different than wanting to screen for any condition that might not manifest until adulthood.
“Until we get a better handle on how to interpret the meaning behind the genetic variation, the information alone is of little value.”