When people think of genomics, they typically don’t visualize the primary care setting — but Northshore–Edward Elmhurst Health is trying to change that.

Genomics is a key part of the health system’s approach to personalized care delivery, said Kristen Murtos, its chief innovation and transformation officer, in a recent interview. NS-EEH, the third largest health system in Illinois, was created in January 2022 when NorthShore University HealthSystem and Edward-Elmhurst Health completed their merger.

“Several years ago, NorthShore leaned heavily into the power of genomics and integrated that as part of primary care practice — unlocking the opportunity to more holistically understand predisposition to certain diseases, to tailor care plans and to be able to give proactive and preventative care versus waiting until disease manifests and just being treated after that,” she explained.

At NS-EEH, all patients are offered genetic testing as part of their primary care visit, Murtos pointed out. Each patient receiving a mammogram at the health system is also offered saliva testing for breast cancer risk as part of the visit.

NS-EEH administers comprehensive genetic tests, pharmacotherapy genomic tests, and tests for certain gene mutations based on a patient’s family history. Some of the vendors that supply NS-EEH’s genetic tests include GeneDx (formerly Sema4), Color and Exact Sciences, the health system said.

Over the past 4 years, more than 40,000 patients have received genetic testing through NS-EEH, Murtos declared. During this time period, more than 90% of primary care doctors across the NorthShore Medical Group ordered genetic testing for their patients. Once a patient receives results from their genetic testing, that information is immediately integrated into the EHR.

The health system has already begun to see the downstream effects of increasing patients’ access to genomics, Murtos noted. 

For instance, the testing is causing some patients to seek early diagnostic care — 80% of patients who test positive for being at risk for breast cancer activate diagnostic care, such as a mammogram or MRI, according to NS-EEH.

Additionally, Murtos pointed out that 98% of patients who received pharmacotherapy genomic testing tested positive for some sort of contraindication or inflammation relative to medication. In these patient’s medical records, there are alerts letting clinicians know about any drugs that may be ineffective or dangerous.

“Having that additional lens of information really starts to fill in the blanks. Physicians can have a more complete indication of what a patient looks like and, and that informs our physicians to be able to better partner with them in their care,” she said.

To ensure broader access to genomics, the health system has worked with the Swedish Hospital Foundation, one of its philanthropic funds, to provide genetic testing to patient populations who could benefit from genomics but would be unable to afford it. 

The health system has also conducted studies to identify cultural barriers to genomics in key communities that it serves. For example, a study about the perception of genomics in the local Vietnamese community revealed insights on how to describe testing in a way that minimizes concerns and addresses priorities. 

The study noted that there was a low awareness of genetic services among the Vietnamese community, as well as general unfamiliarity and discomfort with western medicine. It found that advertisements in Vietnamese-language social media and local Vietnamese-language newspapers and magazines could ease barriers to genetic testing, as well as educational events at local clinics and Vietnamese community organizations. These findings have been presented at various medical conferences to help promote cultural sensitivity in genomics programs across the country, NS-EEH said.

Photo: Andy, Getty Images