Courtesy Jon Hillenbrand, NorthShore University HealthSystem
A Chicagoland hospital system has added something new to its patients' annual checkups: the option to get a genetic test.
Until now, DNA tests have tended to live either in the consumer realm or through referrals to specialists when a patient brings it up.
NorthShore University HealthSystem wants to bring that conversation about genetics into every doctor's office during annual checkups.
The plan is to be "more proactive" in how the health system deals with health, rather than reactive, Dr. Peter Hulick, head of medical genetics at NorthShore, told Business Insider.
That's going to be increasingly important as hospitals start to take on more responsibility, by getting paid to make sure patients are healthy rather than looking solely at the number of people they treat, Hulick said.
How it works
- A few days before you're scheduled to go in for your annual physical, NorthShore will send out a questionnaire that asks about your family history and if you're interested in getting a genetic test.
- Your answers get put into the hospital's electronic health records, and an algorithm helps determine what tests a person might be a good candidate to take, if any. They could be tests that screen for a hereditary-cancer risk (like the BRCA1 and 2 genes associated with breast and ovarian cancer), cardiovascular risk, or tests that show how you might respond to certain medication.
- Patients are responsible for paying for the test, which can be covered by insurance.
- Whether a person gets a test - say, a hereditary-cancer screening - is based on national guidelines, Hulick said, and people will get only the tests they might need. Dr. Robert Nussbaum, the chief medical officer at Invitae, a company that provides genetics tests to NorthShore, said doing a hereditary-cancer test if someone doesn't have a family history of the disease is "inappropriate for a general screening" and could cause unnecessary anxiety.
Courtesy Jon Hillenbrand, NorthShore University HealthSystem
Because patients won't be getting tested for everything they could possibly have, Revis said he anticipated this becoming something NorthShore does every year, rather than once in a patient's life. That's because family histories might change or the
Genetic testing goes mainstream
Erica Ramos, a genetic counselor at Illumina and incoming president of the National Society of Genetic Counselors, told Business Insider that doing genetic testing at the primary-care level was a newer approach that reflected "where we're headed."
Other companies have taken on ambitious genetic-sequencing projects. Geisinger Health System, which operates out of Pennsylvania, has sequenced the DNA of 92,815 patients, with 3.5% of them getting a result that showed they had a disease-causing genetic variant.
For now, one of the concerns is there isn't much information about whether taking these genetics tests improves people's health. Would they be just as healthy and live just as long if they never had these tests?
One study, recently published in the Annals of Internal Medicine, concluded that when primary-care practices used whole-genome sequencing (that is, reading the entire genetic code of a person), they were able to come up with some findings for their patients, but it was still unclear how helpful those findings were.
Getting to the bottom of whether these tests could add value is something NorthShore and Invitae said they were interested in.
In the meantime, Hulick said he's gotten positive feedback from the program. Even patients who didn't need a genetics test said they felt satisfied in having the option.