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NIH-funded Multiplex Genetic Susceptibility Study May Reveal Barriers to Test Adoption

The National Institutes of Health is investing in a study to identify barriers to patient adoption of genetic testing for chronic diseases, which the funding agency hopes will help personalized medicine take hold in health care.
The National Human Genome Research Institute and the National Cancer Institute announced last week that they have awarded a contract worth more than $1 million to Group Health Cooperative in Seattle and the Henry Ford Health System in Detroit to study how adults between the ages of 25 and 40 utilize genetic tests to guide their treatment decisions.
The price tag for the so-called Multiplex Initiative will be closer to $2 million after factoring in personnel and materials production costs, Colleen McBride, chief of social and behavioral research at the NHGRI and the lead investigator on the study, told Pharmacogenomics Reporter in an e-mail this week. The study results will be available in mid-2008.
“The Multiplex Initiative will provide insights that will be key to advancing the concept of personalized medicine,” NHGRI Scientific Director Eric Green said in a statement.
Industry and regulatory authorities regularly cite the lack of patient education and physicians’ unease using genetic tests as major barriers to the adoption of predictive technologies. NIH’s monetary commitment to the study signals that the United States’ largest health research organization is giving this matter serious consideration.
“As genomic technologies are introduced for wider use, researchers and clinicians will need to know how genetic susceptibility tests will be received by patients,” the NHGRI said in a statement last week. “This study will be an important first step in understanding how such testing can be practically used in primary care settings.”
Group Health Cooperative will be in charge of surveying the study population by recruiting 1,000 patients from Henry Ford Health System’s Detroit-based patient lists. These patients will be tested for their genetic predisposition to eight chronic conditions — type 2 diabetes, coronary heart disease, high blood cholesterol, high blood pressure, osteoporosis, lung cancer, colorectal cancer, and malignant melanoma.
“We’re trying to get a sense of what happens when people get this genetic information about themselves, both in terms of how they use it, what might motivate them to be tested in the first place, and how [testing] affects their behavior, their healthcare,” Eric Larson, executive director of the Group Health Cooperative’s Center for Health Studies, told Pharmacogenomics Reporter last week.
The initiative will shed light on whether genetic testing “leads to greater adoption of healthy lifestyles, taking the right medication, to false reassurances, or does it increase the ‘sick role’ behavior because people feel that they aren’t as healthy as before they were tested?” Larson posited.
Additionally, the study will investigate how physicians use genetic information in patient treatment. “The idea here is to do this in a systematic way as opposed to the casual way that it is occurring, with people being able to order genetic risk profiles over the Internet nowadays, or in those lab-in-a-box kinds of places,” he added.
The Study
The study will use Illumina’s Golden Gate assay to detect variations in participants’ genes that may impact their chances of acquiring a disease. The Center for Inherited Disease Research, a CLIA-certified genotyping facility jointly operated by the NIH and Johns Hopkins University, will conduct the genetic testing.
Following testing, patients will receive results revealing whether they have four to 10 risk versions of individual genes. “Having a risk version of one of the 15 genes on the multiplex genetic test does not mean that a person is certain to get the condition — only that he or she might have a greater chance of developing the disorder,” the researchers said in a statement.
Once patients are enrolled in the study, they will be asked to review information on the Internet about multiplex genetic testing and to decide if they want to take the test. Those who agree to be genetically tested will receive additional data about the risk and benefits of genetic testing from a research educator, and then provide blood samples for lab analysis.
The initiative will focus on what researchers have characterized as “young adults.” Genetic testing of patients in the 25-to-40-year age bracket may help physicians treat early those patients deemed to have a predisposition for chronic conditions, which begin to manifest in the early years of a patient’s life.
“Learning that one has an increased risk of common health conditions like type 2 diabetes or hypertension may motivate individuals to make different lifestyle choices that could prevent them from ever getting the condition,” NHGRI’s McBride said.
“However, we first have to learn whether individuals want this information, can understand it, and can make use of it before we take on the daunting task of using this to motivate them towards lifestyle change,” she added.
Larson said that there was also the belief among some researchers that a younger cohort may be savvier to the web-based aspects of the study. “Some of this work is being done with web-based devices. That’s a world that [younger people] live in more than older people,” Larson said. “But I think nowadays that [distinction] is probably spurious.”
Patients will be Detroit residents who are patients in the Henry Ford Health System. According to Larson, the diversity within Henry Ford’s patient population makes it “ideal” for this type of a genetic study.
“We are trying to have a population that represents a spectrum of age, race, educational level, socio-economic status, and a spectrum of health literacy. Things that are different in people seeking care we can look at in our analyses,” Larson said. Group Health Cooperative will be responsible for managing the survey, developing the survey instruments, and conducting phone interviews to recruit subjects.
Following the completion of the Multiplex Initiative, expected in mid-2008, the test results will be mailed to the study participants, at which point they can decide if they want to inform their physicians of their status.
Research educators will follow up with patients following completion of the study and three months thereafter to ensure that they understand their genetic test results. Participants will automatically be signed up to a newsletter for two years keeping them informed of new developments about the tested genes.

“It can be hard to get the attention of young healthy adults who may feel that health conditions like heart disease and diabetes are too far in the future to consider relevant. The benefit of genetic susceptibility testing is that it may make these risks more salient in the present.”

If the Detroit-based initiative is successful, the Multiplex project may be expanded to multiple sites around the country. The geographic spread will help confirm that the results observed in the Detroit population are broadly generalizeable, Larson said.  
Test Costs
“One of the important aspects of this study is the evaluation of participants’ responses to the offer of free genetic testing in order to learn more about who is and is not interested in such tests, what influences decisions about whether to be tested, and how individuals who are tested interact with the health care system,” the researchers said in a statement.
Industry observers have said that in addition to patient and physician education, the cost of genetic testing and difficulties getting reimbursement have been major hindrances to the adoption of predictive technologies [see PGx Reporter 02-14-07].
Larson noted that although the Multiplex Initiative will provide the tests for free, the study can account for potential pricing and reimbursement challenges. “We can ask people what their financial threshold would have been: ‘Is this test valuable enough, both before and after testing, that you would do it with your own money?’” he said.
According to Larson, the greatest challenges hindering genetic test adoption are the tests’ quality in terms of specificity and whether they really make a difference in people’s lives. “I don’t really know that we know that,” he said.
Stakeholders in industry, academia, and government alike have noted that genetic tests need to be more specific and sensitive in order to garner payor confidence in the technologies and influence physicians’ prescribing behavior [see PGx Reporter 05-02-07]. 
“The biggest barrier right now [to genetic testing] is making sure that individuals can understand what these tests can and cannot tell them about their risk,” McBride said. “Genetics is not well understood by the public. We and others have a concern that individuals may misunderstand that having a genetic variant means they will certainly get the health condition.”
Ultimately the Multiplex Initiative may inform physicians about how to discuss genetic testing with their patients.
“We want to carefully evaluate how to communicate messages about small increases in genetic risk in ways that help individuals see the importance of adopting healthy lifestyles,” McBride said. “It can be hard to get the attention of young healthy adults who may feel that health conditions like heart disease and diabetes are too far in the future to consider relevant. The benefit of genetic susceptibility testing is that it may make these risks more salient in the present.”

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