Discover the Software that Uses Your DNA To Prevent Medical Errors

Syapse is trying to figure out if you’ll react badly to a drug — before you take it.

When Hollis Klendenberg checked into Sanford Health with chest pains, just a couple years after a stent procedure on his heart, his physician began composing another electronic prescription for a blood-thinning drug, Plavix. But a software alarm stopped him short.

It turns out that 73, Klendenberg, has a genetic mutation which makes his body more susceptible to clotting with Plavix, and he's better off with another blood thinner. And his doctor knew to prescribe it for him, thanks to a new effort by Sanford Health, the biggest health provider in the Dakotas, to accumulate its patients' DNA.

Their attempts are instances of personalized medicine, an emerging discipline supported by the new Precision Medicine Initiative of the Obama government.

In a perfect world, software could help prevent problems until they happen — not merely after a patient gets sick or the negative side effects of a drug take their toll. Sanford's software platform is Syapse, a Palo Alto bioinformatics startup.

They frequently have little idea who will actually experience them while doctors are conscious of the potential side effects of the drugs they prescribe to patients. “Now we are finding out in gene testing that maybe we can predict whether a medication is definitely going to be powerful,” said Dr. Anthony Tello, Klendenberg's internal medicine physician at Sanford Health's hospital in Bismarck, North Dakota, which is using Syapse. “We can also call in some situations if the individual is going to have side effects from a drug.”

Seeing problems early
It can only scan for the gene-drug relationships it's been programmed to discover. But it is one that more associations will probably adopt, based on Philip Empey, assistant professor of pharmacy and therapeutics in the University of Pittsburgh School of Pharmacy, and a helpful arrow in the clinician's quiver. To spot possible issues early on, it's significant “to look at patients coming in and say, ‘This one matches the criteria, it appears like they might have a drug or might have an illness in the future,'” Empey said. “That's where the discipline is unquestionably going.”

Actually, it's been headed there for a couple years. From 2011 to mid-2013, St. Jude genotyped more than 1,000 young patients with disorders, hunting for variations in four genes linked to negative responses to a dozen drugs. Researchers found that almost 80% had at least one high-risk genetic variant. They included that information into the patients' medical records and adjusted treatment correctly.

DNA-To-Prevent-Medical-ErrorsSanford's executives say their system is unique as it treats a rural population and, ideally, will assemble the DNA of all its primary care patients — the ones that are healthful and people who have diagnosed a risk of developing them or medical conditions.

Since July, more than 450 patients have consented to be genotyped at one of the federally certified laboratories of Sanford and had their DNA scanned for eight genes linked by peer-reviewed research to known adverse drug reactions. Syapse uses that info to calculate the safety and unwanted effects of varied combinations of drugs. Then, it adds that information to Sanford's electronic medical record system where it's used to flag potential drug-gene issues — like Klendenberg's reduced ability to procedure Plavix.

Syapse's applications is also in place in the University of California at San Francisco and Sarah Cannon, the cancer research arm of the Hospital Corporation of America, among other associations. The clinical information technology board, which reviews all such alarms of Sanford, says the system has so far been error-free.

In the instance of Klendenberg, Syapse was spot on and prompted his doctor to prescribe an alternative drug, Brilinta. “They found a different blood thinner and the hospital had me stable in two hours and I was feeling so good, I liked to go home,” Klendenberg told BuzzFeed News.

Sanford additionally tests for genetic mutations that could cause negative responses to cholesterol-lowering statins, anticancer drugs, and painkillers, among other medicines.

Manager of the molecular genetics department of the Sanford Clinical Medical Genetics Laboratory, Megan Landsverk, which analyzes patients' DNA samples. Via Sanford Health

Challenges lie ahead

Klendenberg's case is comparatively unique, though. Based on an 2014 study in the Annual Review of Pharmacology and Toxicology, genetic testing can just definitively ascertain prescriptions for about 100 out of 1,000 approved drugs in the U.S.

Another hurdle for hospitals who would like to follow Sanford's example is the fact that reimbursement for genetic evaluations is not consistent among private insurers, states, and Medicare and Medicaid. (Sanford, for its part, doubles as an insurance company that covers members‘ evaluations, and a $125 million gift supports its genetics application.)

And linking genetic data to an individual's medical record might be debatable. Each health care provider has its own record system, which doesn't always convey with others and must be altered to comprise DNA information. “As a patient moves from one provider to the next, their genomic data, which are useful over a very long time, do not necessarily follow,” the authors of the 2014 review composed. Many clinicians, also, don't comprehend or trust DNA as a tool in health care: Less than 30% of 10,000 U.S. physicians reported any education in pharmacogenomics in a 2012 survey by Medco Health Solutions, a former pharmacy benefits manager.

Parsing genetic advice as well as other factors that can affect health circumstances, like lifestyle and surroundings, demands a degree of nuance that applications regularly can not account for.

“The problem is you find out not only the things you are looking for, but all kinds of incidental and perhaps unwanted findings,” Dr. Gene Hoyme, Sanford Health's leader of genetics and genomic medicine, said. “There's lots of ethical and procedural issues with whole genome sequencing before we push it out for everyone to use in their own health care.”

Having said that, early efforts seem beneficial and promising for some patients, including Klendenberg.