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NorthShore Moving Toward Greater Integration of Genomics Into Primary Care


NEW YORK –After assessing the impact genetic information can have on patient care within clinics and pilot programs, NorthShore University HealthSystem is working on expanding test access to primary care patients and integrating the results into their day-to-day care.  

In 2020, "we're trying to focus … on how to hardwire this so it's not just a bunch of pilots but really starting to be ingrained in practice," said Peter Hulick, medical director of NorthShore's Center for Personalized Medicine.

The Evanston, Illinois-based health system began efforts to integrate genetics into patient care with the opening of the Center of Personalized Medicine in 2015. The center offered doctors and patients access to genetic testing and expertise through clinics specializing in personalized care for cancer and heart conditions, as well as a pharmacogenomics clinic.

More recently, NorthShore experimented with delivery models and ways to get patients interested in the role genetics may play in their healthcare. For example, men interested in their prostate cancer risk can go online to the Helix genomics marketplace and order a test that analyzes multiple genes associated with the disease, developed by researchers at NorthShore. 

Additionally, through a series of pilots with consumer-oriented genomic testing firm Color, NorthShore has been evaluating the interest of its doctors and patients in having genomics incorporated into their routine care. After an initial pilot program met its target enrollment goal of 1,000 patients in under two months, NorthShore in 2019 decided to expand the enrollment goal to 10,000 patients

In January, Color and NorthShore announced that they had successfully enrolled 10,000 participants into the program. A survey showed that more than half the physicians who ordered testing said the results were clinically beneficial to patients. Additionally, patients expressed significant interest in the DNA-10K program, which may have played a role in attracting more than 800 new patients to the NorthShore system, Color estimated.

Some patients within DNA-10K are still getting their results back, and as such, NorthShore is in the midst of analyzing the impact genetic information has had on their care decisions and outcomes. But to Hulick, it's already clear that the data from this 10,000-patient cohort will bolster the health system's ability to study the utility of genetic testing.

Back in 2015, when NorthShore launched its PGx testing clinic and started building out clinical decision support to help doctors track this information within patients' electronic health records, this type of testing was more of an elective offering, and therefore more infrequently ordered by doctors. "This 10,000-patient population is really going to magnify what we're able to measure," he said.  

While the data is being collected and analyzed, NorthShore has done some preliminary surveys to explore patients' perceptions. In one survey, more than 50 percent of patients said they'd be more likely to follow screening recommendations after going through this process. Patients also indicated they'd be more likely to adhere to meds because they felt that a more holistic approach was being taken in their healthcare.

Based on the growing interest from patients and physicians, Color has decided to expand its partnership with Color in 2020 to provide genetic testing to 30 additional clinics within the NorthShore system. Within the program, NorthShore and Color will also provide program participants with their risk for type 2 diabetes and coronary artery disease using polygenic scores. While testing within DNA-10K was free, patients will now have to pay $175.

Figuring out the testing component is only the beginning of the work the health system has to do to truly integrate genomics into everyday care. "It is really only the first quarter mile of trying to solve the last mile problem," Hulick said. "If this information just sits idle or no one uses it, well, then we really haven't achieved our goal of incorporating this into primary care."

Within earlier pilots, NorthShore figured out the logistics of how to get patients tested and how to bring results into physicians' workflows. NorthShore used its patient portal and email to get their consent for testing, educate them about privacy protections, test limitations, any potential out-of-pocket costs, and generally set expectations before they come in for their annual checkup, where they will discuss testing further with their doctors. There are also alerts built into the physician decision support to let them know if a patient may be interested in getting tested based on the information they've filled out in the patient portal.

This facilitated a more straightforward physician/patient interaction in the doctor's office, where doctors have a limited amount of time, Hulick said. These strategies also went a long way toward getting physicians to participate. He highlighted that all 116 physicians across 13 primary care sites (ObGyn, internal medicine, and family practice) involved in DNA-10K ordered testing for their patients.

Part of the "hardwiring" of genomics at NorthShore will also involve changes within its decision support system. Color and other labs are now reporting back discrete structured genomic data within Epic, which allows Hulick and his colleagues to organize decision support alerts with the EMR and analyze the data alongside patients' clinical information more easily.

NorthShore will add more "nudges" within the decision support to encourage behavior change among doctors using not just genomic information but also other data, such as patients' family history. "Traditional decision support often comes in the form of a 'Best Practice Alert' but they are limited in terms of where in the EMR they can be used," Hulick explained, noting that these alerts don't currently fire when a patient's record contains family history information that places them at high risk for an inherited condition, even though such information could warrant increased screening or be a trigger for genetic testing.

However, these new changes may be difficult to integrate, given NorthShore's ambitions to expand genetic testing across its primary care sites and some affiliate sites. This will involve roughly double the number of physicians who took part in DNA-10K. Hulick observed that doctors at affiliate sites may have different levels of Epic integration, which may bring some implementation challenges.

With more patients getting genetic testing across the healthcare system, NorthShore will also have to take a system-wide approach to ensuring that patients are getting the right follow-up care. There will be patients with positive results from hereditary cancer risk testing who should be on a care pathway that includes more follow up and greater screening, but who don't take the next steps. There are certainly patients within DNA-10K who haven't followed up on positive test results, and Hulick noted that it'll be important for NorthShore to figure out why that is, suggesting that it mightbe a patient education issue, a physician education issue, or due to insurance barriers.

Toward this end, NorthShore is creating "care pathways" that will ensure that patients, based on their medical and family history as well as genetic test results, are getting appropriate care. "The idea is to get that complete picture for a patient," Hulick said, "and that's the basis of the care pathways." 

More testing will also bring greater instances where patients learn they have a variant that multiple labs have classified differently, or which gets reclassified over time as disease causing, benign, or of uncertain significance. NorthShore is developing a way to flag inter-laboratory discrepancies in a more automated way so medical directors can follow up on that and investigate whether the result needs to be updated based on available evidence. "There are many reasons why a discrepancy might occur, [but] the key is to know it exists [and] identify it so it can be addressed and hopefully resolved," Hulick said.

There have also been a few cases where labs NorthShore is working with have reclassified variants for patients based on new evidence. In one case, a BRCA1 variant of unknown significance was upgraded to pathogenic status, associated with increased risk of breast, ovarian, and pancreatic cancer, after the patient's other family members were tested.

Most of the reclassifications tend to be downgrades, from uncertain status to benign, or in some cases, from pathogenic to uncertain status. In the DNA-10K program, Hulick highlighted one patient who had initially been told that a MUTYH variant was likely pathogenic, but later it was downgraded to a variant of unknown significance. Practice guidelines advise doctors not to make clinical decisions based on variants of unknown significance since the vast majority of them tend to be reclassified as benign.   

What these examples show is that variant classifications aren't static, and evidence may emerge years after testing and change the field's understanding of a variant's association with disease. Meanwhile, patients can change doctors or leave the healthcare system, but NorthShore is implementing ways to recontact them.  

"NorthShore as a health system is building a foundation to follow variants identified in patients at a systems level. By receiving results in a structured way, applying genomic indicators, … we can systematically reach out to patients via our secure messaging portal," Hulick said. "Even if a patient moves out of our system, if the email they used to set up their secure messaging through NorthShoreConnect is still active, they could still receive the message."

NorthShore this year will also start offering polygenic risk scores for coronary artery disease and type 2 diabetes for primary care patients who opt to have this information through Color. Although the clinical validity and utility of polygenic risk scores are evolving, NorthShore is exploring how to use such data alongside other information to activate patients to get more involved in their care.

"Not everybody wants to take a population approach," Hulick acknowledged. However, early findings from NorthShore's pilot programs suggest that those who test positive on a family history tool showing increased risk for cancer, for example, may be more interested in genetic testing and population screening. "If I had been told I had a family risk of breast cancer and this genetic testing actually may be important as part of that assessment, then maybe I will go ahead with it," he said.

This is another example, Hulick said, of how the health system is hardwiring genomics into mainstream care alongside family history, patient's own medical information, and population data. Ultimately, what NorthShore is thinking about now, he said, is: "How do we bring everything together?"