By Patrick Springer
Forum News Service
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, Minn., woman had an 87 percent chance of developing breast cancer. Pre-emptive 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.”
