Your next doctor visit may include genetic testing

Anyone who’s ever had an annual physical exam knows the routine.

Step on the scale to check your weight. Watch the blood pressure cuff inflate. Breathe deeply as a cold stethoscope is pressed to your back and chest.

Now, at least one local health system wants to add another component to many standard visits: genetic testing.

Starting in April, NorthShore University HealthSystem, based in Evanston, Ill., will offer extensive genetic testing to 10,000 primary care patients to determine whether they’re at higher risk of developing conditions such as breast cancer, colorectal cancer and heart disease. The tests could also help steer patients toward the most effective pain and depression medications based on their genetics.

It’s a glimpse into what some say could be the future of primary care — a way to keep patients healthier and hold down costs by catching treatable diseases earlier. It’s also a way for health systems to capitalize on the growing popularity of genetic tests like 23andMe, by offering their own tests and follow-up care. NorthShore is one of at least a few health systems in the country offering genetic testing in primary care, even as concerns remain about how useful the information may be and whether it could lead to unnecessary care and costs.

Patients won’t have to pay for the genome sequencing, which will be offered as part of a pilot project with genetic testing company Color. If the pilot is successful, NorthShore could offer the tests to more patients, although it’s uncertain whether consumers beyond the first 10,000 would bear any costs.

Other local health systems already offer narrower genetic testing to patients with certain conditions, such as cancer. But the practice of offering broad testing as part of routine primary care is still relatively new. And while many tests marketed directly to consumers look at a number of genetic variants, the test NorthShore will use sequences a person’s whole genome, or complete set of DNA.

“I think this is something that is just becoming the new way to do medicine,” said Casey Frankenberger, chief research informatics officer at Rush, who is not involved with the NorthShore project, “There’s a lot to be gained for it, and I think there’s very little to be lost.”

Geisinger health system, based in Pennsylvania, began offering genetic testing to primary care patients last summer in two of its primary care clinics, and so far 221 tests have been ordered, said Christa Martin, Geisinger’s associate chief scientific officer. That’s on top of 215,000 people who volunteered to submit blood samples as part of a research project that also will let patients know if they’re at higher risk of developing certain conditions. Generally, about 2 percent of patients tested have genetic variations that put them at higher risk of developing certain conditions, according to the system.

South Dakota-based Sanford Health started offering broad genetic testing to primary care patients last year and so far has tested about 2,000 patients. About 3 percent of those tests have come back with results showing patients are at higher risk for certain diseases that can be treated or caught with regular screenings, said Dr. Cassie Hajek, physician chair for the system’s precision medicine program.

It’s information the system hopes will help keep its patients healthier — a common goal for genetic testing in medicine.

“If we can identify risk factors, then we need to move from the model of waiting for people to get sick and treating them in hospitals to a mode where we’re going out in the population and keeping people healthy,” said Dr. Olufunmilayo Olopade, director for the Center for Clinical Cancer Genetics at University of Chicago Medicine, which is not involved in the NorthShore project.

Rebecca Marsalli of Zion, Ill., has already taken advantage of NorthShore’s offer. About 1,000 NorthShore patients agreed to undergo genetic testing as part of an earlier, smaller program.

Marsalli occasionally has thought about getting tested in the past, knowing her mother had breast cancer twice. But as a new mom, getting tested wasn’t at the top of her to-do list.

Having it offered at her obstetrician-gynecologist appointment in November, at no cost to her, made it easy to act, she said.