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. 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 administering the baseline phone interviews to recruit subjects.
A 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.
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.