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Published January 28, 2014, 10:25 PM

Genetic screening spreads to primary care at Sanford clinics

FARGO – Anne Roberts considers herself a breast cancer “previvor.” After learning that she inherited a gene that placed her at very high risk – and knowing her family history was riddled with cancer – she opted for preventive surgery, a double mastectomy.

By: Patrick Springer, INFORUM

FARGO – Anne Roberts considers herself a breast cancer “previvor.”

After learning that she inherited a gene that placed her at very high risk – and knowing her family history was riddled with cancer – she opted for preventive surgery, a double mastectomy.

“My surgeon explained to me it wasn’t a matter of if,” she said. “I was going to get cancer. It was a question of when.”

Roberts was 55 when she had the surgery four years ago – the same age her older sister first developed breast cancer, and the age of her paternal grandmother when she died of cancer.

Genetic testing revealed the Moorhead woman had an 87 percent chance of developing breast cancer. Preemptive surgery reduced her risk by 90 percent.

Now, the kind of genetic screening and counseling that has long been common in treating cancer and assessing prenatal or childhood risk of inheriting disease is spreading to primary care at Sanford Health clinics under a new $125 million initiative in genetic medicine.

The effort, which Sanford calls Imagenetics, is billed as the first comprehensive program to bring the tools of genetic medicine to primary care, with specialists working “shoulder to shoulder” with internal medicine doctors.

Beginning later this year, genetic tests will be available to help predict how certain patients will respond to medications.

Other health systems have discussed bringing genetic medical services into primary care.

“We’ve been talking about doing that for a long time,” said Mary Ahrens, who heads genetic counseling at the University of Minnesota Medical Center, Fairview. “We get a lot of referrals from primary care.”

Cost has been the obstacle – genetic tests often cost about $2,000 and sequencing a patient’s entire genome costs about $5,000 – but Ahrens predicts genetic medicine someday will be widely used in primary care settings.

“It’s definitely where genetics is going in the future,” Ahrens said. “The technology that’s giving us that information is pretty much exploding.”

At Sanford, early candidates include statins to control cholesterol, blood thinners as well as some anti-cancer drugs and immune suppressants for transplant patients.

As the cost of genetic screening continues to decrease, and as research continues to advance, the use of genetic markers in analyzing patients’ risk and guiding their treatment will become more and more common, said Dr. Eugene Hoyme, a medical geneticist and president of Sanford Research.

For example, all newborns now are screened for about 25 genetic disorders, so doctors know right away if an infant has a rare disease.

That sort of preventive screening will become more widely deployed, using genetic diagnostics, with help from large-scale clinical research, Hoyme said.

“We are poised now, as a large health system, to be one of these groups of hospitals to really show what is useful and what is not useful,” he said.

But, he added, the rollout will be measured and supported by research.

“I told the internists we don’t want to get the practice ahead of the science,” Hoyme said.

* * *

For Dr. Russ Wilke, an internal medicine doctor at Sanford, the use of genetic screening to predict patients’ drug response is a helpful extension of the family history collection that has always been part of medicine.

Using genetic markers to identify patients’ health risks enables doctors to take a more active role in helping to prevent or minimize diseases patients are genetically predisposed to develop, he said.

That predisposition varies significantly from one person to another, but the use of genetic markers have the potential to deliver “personalized” medicine tailored to the individual.

Wilke’s interest in therapeutic genetic screening evolved through his two decades of experience in primary care. He has published extensive research in the field of pharmacogentics, or using genetics to help predict drug response.

“It became real apparent a decade or so ago that some of this is determined genetically,” he said. “So I got interested in our ability to predict disease.”

With certain medications, such as blood thinners or drugs to suppress the immune system, even tiny differences in a drug’s level in the bloodstream can produce wide variations in outcomes.

The Food and Drug Administration has identified more than 100 drugs for which genetic drug response is important in avoiding adverse reactions or getting optimal outcomes through precise dosage.

Of those, 17 drugs have guidance based on research to help guide doctors in treating patients.

They include work Wilke and research partners have done in predicting which patients will experience muscle pain when taking anti-cholesterol drugs called statins.

Statins, widely prescribed drugs, are both very safe and effective. But some patients experience muscle pain side effects, and an extremely small number can suffer muscle damage, making prediction using genetic markers important, Wilke said.

“There are many drugs and drug classes and potential side effects this can be applied to,” Wilke said.

Still, he added, it takes time to perform the research to guide clinical applications.

“We don’t want to over-promise to our patients,” he said.

But, he said, using genetic markers can help doctors more quickly come up with “the right drug at the right dose at the right time” to more effectively treat a patient.

“It’ll get you to the desired therapeutic effect sooner and more efficiently with potentially fewer side effects,” Wilke said.

Both Hoyme and Wilke stressed that Sanford’s use of genetic markers in primary care will be targeted, and not contain patients’ entire genome.

But the sample, taken from a simple blood draw, can be saved for future reference. “It’s a one-time test and the information is there,” available to help avoid diseases such as diabetes, Wilke said. “It’s done pre-eminently.”

By bringing genetic counselors and medical geneticists into the primary care setting, doctors will be able to analyze their patients’ genetic information to optimize care, he said.

“It’s your information,” Wilke added. “You deserve to understand it. That’s our job. As a physician, it deepens my understanding of my patient.”

Over the next 20 years, as testing for genetic markers becomes cheaper and the clinical uses grow, it will increasingly become part of primary care, Hoyme said.

“I think it will help a lot in the way we care for patients,” he said. “I like to think of it as precision medicine.”

For example, testing could help to predict which patients are likely to regain weight after bariatric surgery.

“The surgeon could use that information,” Hoyme said, guiding post-surgical care to avoid regaining the weight.

He envisions development of software protocols that draw upon genetic information in the way tools already available use blood or urine samples and other information to predict birth defects.

“That’s the way I think these things will happen in the internal medicine clinic,” Hoyme said, “especially in these very complex diseases.”

* * *

Anne Roberts, whose information about her family medical history and genetic testing enabled her to prevent breast cancer, is grateful that she was spared the ordeal her older sister had to go through.

Five of her seven siblings have been tested, and four of those five tested positive for the gene that greatly increases women’s risk for breast and ovarian cancer.

“We have a tragic family history,” Roberts said, echoing the words of Dr. Pamela McGrann, the medical geneticist at Sanford whom she consulted.

Her three adult daughters, whose ages range from 23 to 32, have not yet gotten tested, but likely will, she said, adding, “They’ve got more time.”

Five of her nieces have tested positive for the gene; one has had her ovaries removed and the others plan to have preventive double mastectomies.

“It’s bad news, but the good news is education is empowering,” Roberts said. “I think they feel empowered. I know I did.”

Readers can reach Forum reporter Patrick Springer at (701) 241-5522