The availability of genetic testing to help individuals learn their risk for a particular disease has not resulted in an overuse of costly medical care.
Policymakers have questioned whether the increased opportunity to participate in genetic testing would appreciably drive up or diminish test recipients’ demand for potentially costly followup health services.
The study by researchers at the National Institutes of Health and colleagues at other institutions allay, at least temporarily, cost concerns at a time when health care cost escalation is a significant national issue.
The study is published in the online issue of Genetics in Medicine.
Genetic tests are available from a growing number of commercial producers. Health care providers and policymakers have been uncertain whether people who received information only about risk would follow up by demanding diagnostic testing to monitor for predicted illnesses.
The study is the first to use electronic health records — rather than self-reported behavior — to measure the impact of genetic testing on the subsequent consumption of health services by commercially insured, healthy adults.
Self-reports, which can be affected by memory lapses and other problems, tend to be less accurate.
“We need to understand the impact of genomic discoveries on the health care system if these powerful technologies are going to improve human health,” said Dan Kastner, M.D., Ph.D., scientific director and head of the National Human Genome Research Institute’s (NHGRI) Division of Intramural Research.
“We are still learning how to integrate new genomic discoveries into clinical care effectively and efficiently.”
“There are a lot of unanswered questions about how genetic test results can be used to guide people toward making positive lifestyle and health behavior changes,” said Colleen McBride, Ph.D., chief of NHGRI’s Social and Behavioral Research Branch.
“This study goes a long way toward bringing data to these debates and shows that people are not likely to make inappropriate demands of health delivery systems if they are properly informed about the limitations of genetic tests.”
Genetic tests, such as those used in this study, can detect common variants of genes associated with modest alterations in the chances of developing particular diseases. The term multiplex refers to simultaneously performing multiple genetic tests on a single blood sample.
Researchers followed 217 healthy people between the ages of 25 and 40 who elected to participate in genetic susceptibility testing offered by their health plan.
Health care usage by the participants was monitored for the 12 months before genetic testing and the 12 months following the testing. Investigator also compared the test group’s behavior with a group of about 400 similar plan members who declined the testing offer.
The researchers counted the number of physician visits and laboratory tests or procedures the people received, particularly those services associated with four of the eight conditions tested by the multiplex panel.
Researchers discovered that most of the procedures or screening tests that were counted were not among those currently recommended for people in this age group who don’t have symptoms.
Saliently, researchers found that participants in genetic testing did not change their overall use of health care services compared with those not tested.
All of the individuals who elected to undergo the multiplex test carried at least one at-risk genetic marker, with the majority carrying an average of nine at-risk variants.
The tests performed for the Multiplex Initiative include a set of genetic variants reliably associated with an increase in disease risk and for which some corrective health behavior has been shown to prevent illness.
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 slightly greater chance of developing the health condition, explained Dr. McBride.
There are many things other than genetics that contribute to the risk of common diseases, including lifestyle factors such as diet, exercise, smoking and sun exposure.
“Much is written about using genetics to personalize health care,” said co-author Lawrence C. Brody, Ph.D., chief of NHGRI’s Genome Technology Branch.
“Some think that this new generation of genetic tests will be a very positive addition to medicine; others believe they have the potential to make things worse.”
Dr. Brody designed the panel of genetic tests used in the Multiplex Initiative, consisting of 15 genetic markers that play roles in eight common diseases, including type 2 diabetes, coronary heart disease, high blood cholesterol, high blood pressure, osteoporosis, lung cancer, colorectal cancer and melanoma.