The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), parts of the National Institutes of Health (NIH), have teamed with Group Health Cooperative in Seattle and Henry Ford Health System in Detroit to launch a study to investigate the interest level of healthy, young adults in receiving genetic testing for eight common conditions. Called the Multiplex Initiative, the study will also look at how people who decide to take the tests will interpret and use the results in making their own health care decisions in the future.

The test being used is designed to yield information about 15 different genes that play roles in type 2 diabetes, coronary heart disease, high blood cholesterol, high blood pressure, osteoporosis, lung cancer, colorectal cancer, and malignant melanoma.

“The Multiplex Initiative will provide insights that will be key to advancing the concept of personalized medicine,” said NHGRI Scientific Director Eric Green, M.D., Ph.D. “As genomic technologies are introduced for wider use, researchers and clinicians will need to know how genetic susceptibility tests will be received by patients. This study will be an important first step in understanding how such testing can be practically used in primary care settings.”

Researchers at Henry Ford Health System, a major health provider in metropolitan Detroit, are recruiting individuals between the ages of 25 and 40 to volunteer to participate in the study. The participants are being selected through patient lists from Health Alliance Plan, the largest managed care plan in Michigan, owned by Henry Ford Health System and the Henry Ford Medical Group, the health system’s group medical practice of more than 900 physicians and scientists. A total of 1,000 participants who meet the study’s eligibility requirements will be offered free multiplex genetic testing.

Multiplex tests, such as the one being used in this study, can detect common variants of genes that slightly alter the chances of acquiring particular diseases. The term “multiplex” refers to performing multiple genetic tests using the same blood sample. On average, those who get tested in the Multiplex Initiative will receive results indicating that they carry four to 10 risk versions of individual genes. However, 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. Researchers also note that many things other than genetics contribute to the risk of common diseases and that, for most people, lifestyle factors such as diet, exercise, smoking, and sun exposure are major contributors to developing common diseases.

“The Multiplex Initiative will give us an unprecedented opportunity to learn about the public’s receptivity to genetic susceptibility testing and give insights into the added role this testing might play in improving health,” said lead investigator Colleen McBride, Ph.D., senior investigator and chief of NHGRI’s Social and Behavioral Research Branch. “We are looking at a prototype of multiplex testing in a research context first to see if we can effectively communicate what these tests mean for health risks and begin to evaluate how these tests might be used to inspire healthy people to stay healthy.”

In addition to McBride and Lawrence Brody, Ph.D., a senior investigator in the NHGRI Genome Technology Branch, the team includes researchers from the Henry Ford Health System in Detroit and the Group Health Cooperative in Seattle. Epidemiologist Sharon Hensley Alford, M.P.H. of Henry Ford Health System is leading the Detroit-based team, while the Seattle group is headed by Eric B. Larson, M.D., M.P.H., executive director of the Group Health Center for Health Studies, and Robert Reid, M.D., Ph.D., Group Health Cooperative’s associate medical director for preventive care. The Seattle group organized the survey, developed survey instruments and are administering the baseline phone interviews to recruit subjects.

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. An innovative system for data collection and analysis has been designed for the project by the NHGRI Bioinformatics and Scientific Programming Core, led by NHGRI’s Deputy Scientific Director Andy Baxevanis, Ph.D. The genetic testing will be conducted at the Center for Inherited Disease Research (CIDR), a world-class genotyping facility that is jointly operated by NIH and The Johns Hopkins University.

Once enrolled, participants will be asked to review information online about the multiplex genetic test and to decide whether they are interested in taking the test. Those who agree to testing will meet with a research educator, who will provide more information about the risks and benefits of testing and will obtain the patient's written consent. Blood samples from individuals in this group will be analyzed at the CIDR laboratory, which has Clinical Laboratory Improvement Amendments (CLIA) certification.

Test results will be mailed to participants. Follow-up telephone calls will then be made by trained research educators to help participants interpret and understand their results. The study will also include follow-up interviews with participants three months after receiving their results. Participants will continue to receive newsletters for two years to update them on new developments about the tested genes.

To protect patient privacy, test results obtained during the Multiplex study will not automatically become a part of participants’ medical records. However, participants who want to share their test results with their health care providers may do so.

According to Dr. McBride, the Multiplex Initiative will inform the field about how to communicate genetic risk to patient populations and will establish an infrastructure for additional research studies aiming to answer social and behavioral questions important for the genome era. Studies such as this one are a first step toward translating genetic research into health care.

NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. Additional information about NHGRI can be found at its Web site, www.genome.gov.

The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.