By Lisa Schencker Chicago Tribune
WWR Article Summary (tl;dr) Some health professionals say genetic tests can help identify whether patients are at risk for disease. The tests can also steer patients toward the most effective pain and depression medications based on their genetics.
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.
Once her test results came back and she learned she was at higher risk of developing breast cancer, NorthShore connected her with a doctor who focuses on breast health. The 29-year-old now will be checked with mammograms and MRIs regularly.
The "waiting period was very nerve-wracking, but now that I have the results, it's kind of empowering because I know basically what I need to do," Marsalli said. "I think it's amazing."
Still, questions remain about integrating genome sequencing into primary care.
It's still unknown, for example, how much certain genetic mutations might actually increase a person's risk of getting a disease, said Amy Sturm, president of the National Society of Genetic Counselors.
"It's really an exciting area, and I think it has a lot of promise, but there does need to be more research to help guide us in ... what are the most important conditions we should be reporting back," said Sturm, who is also a leader of the program at Geisinger.
Without more evidence that genetic testing can lead to better health, it might not be the best use of time in primary care, said Dr. Adam Obley, an assistant professor at Oregon Health & Science University.
"One of the things we worry about is being awash in this information, much of which we don't know the significance of, could crowd out really important tasks primary care (doctors) need to do," he said.
Also, at a time when many in health care are concerned about the costs of overtesting patients, broad genetic testing could be seen as part of that problem.
It's a fair concern and among the issues the pilot program will examine, said Dr. Peter Hulick, medical director of NorthShore University HealthSystem's Mark R. Neaman Center for Personalized Medicine.
"We need to understand not only the clinical implications, but what are the downstream effects in terms of outcomes (and) also financial implications for patients and clinicians," Hulick said.
And then there's the issue of privacy. Some genetic testing companies have faced criticism for how they share consumers' data.
GlaxoSmithKline announced last year that it invested $300 million in 23andMe as part of a collaboration aimed at developing new medications using 23andMe's data. The companies plan to share in the proceeds from any new medications that are developed as a result of the collaboration. 23andMe only shares' consumers' data with their permission, and when it is shared, it's not personally identifiable, the company has said.
Color, based in Burlingame, Calif., does not sell patients' data, though consumers can choose to contribute their anonymous data for research, said Othman Laraki, CEO and co-founder of Color, which also sells genetic tests directly to consumers, using saliva samples, for about $250.
Hulick said NorthShore will protect patients' genetic data just as it protects all medical information. The information will be part of patients' medical records and belong to the patients, meaning they can take it with them if they go to different health systems.
There's no guarantee, however, that patients might not be asked to disclose some of what they learn when they apply for certain types of insurance. A federal law, the Genetic Information Nondiscrimination Act, prevents health insurers and employers from obtaining a person's genetic test results or making decisions based on those results. But that law doesn't apply to life insurance or long-term care insurance.