The future of medicine, we are told time and time again, is genetic and personalized. Someday, physicians will call up the genetic code of a patient and determine their genetic risks and which treatments will work most effectively with the fewest side effects. That information can be organized into individual, unique medical plans for each patient, helping them avoid disease as much as possible and treat quickly and directly when illness does occur. Though completely personalized medicine remains years, if not decades, away, the first few glimpses of this future have arisen in recent years with gene tests that help inform decisions about blood thinners and cancer drugs.
But for all the talk of genetic medicine improving patient care, an important question lingers: what will it cost? The soaring costs of health care in the United States have been at least partially driven by the steep price tags attached to medical innovations. New drugs and tests tend to be expensive when they reach the market, and it remains to be seen whether the clinical advantages of personalized medicine will outweigh its potential costs.
To put this balance to the test, a team of University of Chicago researchers used one of the earliest successes of genetic medicine: monogenic neonatal diabetes. As profiled before on ScienceLife, some children who are born with a form of diabetes caused by a genetic mutation can be switched from daily injected insulin to a pill, with dramatic improvements to their quality of life and disease control. At last summer’s Celebrating the Miracles conference, the families of children who had successfully “transitioned” off of insulin spoke emotionally about how the switch had changed their lives for the better. But for all the heart-warming anecdotes, the financial benefits of testing for neonatal diabetes have not yet been assessed.
“Despite all the talk and the fact we have now sequenced the human genome, there are very few studies showing an actual benefit of all these tests,” said Siri Atma Greeley, instructor of pediatrics and first author of the study. “We have to prove to people that it can make a measurable and appreciable difference in dollars and cents.”
To test the cost-effectiveness of genetic testing in neonatal diabetes, Greeley and colleagues (many from the Kovler Diabetes Center) built a simulation of the costs and quality of life effects associated with the disease over 30 years. Beyond the daily costs of insulin and blood-sugar tests, children with diabetes are at risk of several complications, including blindness, stroke, and heart disease, that can further increase medical spending and decrease quality of life. But testing for the two most common genetic mutations in neonatal diabetes has costs too – roughly $2,800 at 2009 prices – and not every child tested will have a mutation that allows for switching from insulin to sulfonylurea pills. Children who develop diabetes before the age of 6 months have a high chance of testing positive for one of the mutations, but only 1-2% of children diagnosed between 6 months and 1 year old may have this form of monogenic diabetes.
Still, when the researchers ran the numbers, genetic testing clearly proved its worth. Alongside the health benefits one would expect to result from genetic testing of all children diagnosed with diabetes before the age of 6 months, the model also revealed dramatic financial savings over not performing the tests. By 10 years after testing, the average cost savings was over $12,000; by 30 years, the savings figure had climbed over $30,000. The results add a strong financial argument to the medical case for genetic testing of all infants with diabetes.
“We think ours is the first study to show that a specific genetic test clearly results in cost savings,” Greeley said. “Most cost-effectiveness studies will show that any advance in medicine typically results in an improved health outcome, but almost always it costs more. Ours is one of the very, very rare studies to demonstrate not only an improved health benefit outcome, but also an actual cost savings.”
The result emphasizes the importance of efforts such as the neonatal diabetes registry established by the Kovler Diabetes Center and signed into Illinois law in 2009. By registering all children diagnosed with diabetes before their first birthday, as well as children diagnosed later with what is known as MODY (maturity-onset diabetes of the young), researchers can help direct children toward more effective treatments and find new mutations that may be treatable with alternatives to insulin. More broadly, the success of personalized genetic medicine in neonatal diabetes offers hope for future applications of genetic knowledge to strengthen the field of medicine.
“Future advances are likely to be a bit more messy than our clear example, but they will still probably be worth doing, if we can be smart enough to effectively use the volumes of genetic information we are now starting to collect,” Greeley said.
Greeley SA, John PM, Winn AN, Ornelas J, Lipton RB, Philipson LH, Bell GI, & Huang ES (2011). The Cost-Effectiveness of Personalized Genetic Medicine: The case of genetic testing in neonatal diabetes. Diabetes Care PMID: 21273495