Personalized medicine: How NorthShore University HealthSystem has integrated genomics into primary care

"As we look at personalized medicine, it’s about ensuring patients – and their families – have the most comprehensive care plans, incorporating both traditional elements of care with genomics and next generation ‘omics. This requires health systems to address barriers head-on, whether related to education, cost or access." Justin Brueck, assistant vice president of NorthShore University HealthSystem.

Historically, personalized/precision medicine has focused on treating acute disease. While this work continues to be vital, healthcare leaders are also recognizing prevention as a value-added service in their institutions. Genomic technologies can play a key role in personalized medicine via reactive diagnostic testing of patients or preemptive screening of the general population, with an eye toward early identification of patients’ risk and proactive intervention before diseases develop.  

Becker's Hospital Review recently spoke with two experts about integrating genomics into the primary care setting: 

  • Peter Hulick, MD, director of the Mark R. Neaman center for personalized medicine; division head, center for medical genetics of NorthShore University HealthSystem 
  • Justin Brueck, assistant vice president, administration of NorthShore University HealthSystem 

Evanston, Ill.-based NorthShore University HealthSystem has one of the nation's largest population-based genomics programs that is clinically based in primary care. Specifically, at the Mark R. Neaman Center for Personalized Medicine they are tailoring patient care through translational genomic research and genomic testing at the frontlines of care delivery. Dr. Hulick and Mr. Brueck shared how this initiative is demystifying genomics for patients and delivering more equitable healthcare for all.   

Economic barriers to personalized medicine are falling and patient awareness is on the rise

When it comes to genomics in primary care, patients face a variety of barriers, ranging from lack of awareness to economic concerns. NorthShore University HealthSystem's Center for Personalized Medicine is committed to eliminating those obstacles. To-date, over 15,000 patients have received genomic testing through their primary care physicians which represents the largest implementation of genomics in primary care in the United States. 

"Our approach to personalized medicine is unique," Dr. Hulick said. "In addition to our focus on treatment of disease, we also want to get ahead of the curve, so we can take action before patients develop diseases. In addition to oncology, we are focusing on cardiology, endocrine disorders like diabetes and more. We also want to use pharmacogenomics to get people on the right medications for things like pain control, mental health and depression therapy." 

For many years, the cost of genomic testing limited patient access to this testing. But the economic landscape has changed. "We've surpassed Moore's Law and genomic testing costs are coming down exponentially," Mr. Brueck said. "If you look at a test that cost $3,000 five years ago, today it can be run for much, much less. We are getting to a point where the cost of testing shouldn't be a barrier." 

Healthcare payers are also getting on board. NorthShore University HealthSystem has built electronic tools based on National Comprehensive Cancer Network (NCCN) and American College of Obstetricians and Gynecologists (ACOG) guidelines to help physicians identify when patients may need genomic testing. This approach has increased payer support for these diagnostics. In many cases, patients have no out-of-pocket expense for guideline-based family history screening. If patients don't have a family history of disease, NorthShore offers appropriate testing for less than $100. 

A major component of NorthShore's primary care personalized medicine program is raising awareness in the community. Prior to the pandemic, the organization held several community events to demystify what genomics can and can't do. "We are tying our messages about genomic testing to annual physicals," Dr. Hulick said. "When people come in for a well-visit appointment, they are naturally thinking, 'What should I be doing to put myself in the best position to preserve my health?'" 

NorthShore's patient outcomes data shows that integrating genomics into primary care is making a positive impact. The next step is to scale the existing infrastructure to serve more individuals. NorthShore's total primary care population is between 250,000 and 300,000 patients, suggesting a significant opportunity. 

"We're looking at how we can expand what we're doing and replicate it in other geographies," Mr. Brueck said. "We've added Swedish Hospital and Northwest Community Hospital to the NorthShore family, and we're excited to take personalized medicine to the next level with them." 

Precision health data must be integrated into primary care physicians' existing workflows

To blend personalized medicine into everyday patient care, health systems must make it easy for clinicians. "Our goal isn't to turn them into geneticists," Dr. Hulick said. "We must ensure that the system doesn't create barriers, but instead provides educational nuggets during routine clinical workflows."  These just-in-time electronic insights supplement NorthShore’s educational programming which includes 15 clinician “Genomic Ambassadors”.  

For example, when primary care clinicians write a prescription, they may not remember that the patient will be unable to metabolize certain medications based on genetic test results. In this scenario, NorthShore's system alerts the clinician in real-time that the patient could benefit from an alternative therapy or change in dosage. 

"We have built a structure to get patients on the right screening pathways based on their family history and genetic findings.  This is what NorthShore considers ‘Advanced Primary Care’ – integrating genetics as part of each patient’s care plan," Dr. Hulick said. "The key to success is embedding solutions into already established clinical workflows that we know work for our primary care clinicians."  

The ultimate goal: delivering personalized medicine 2.0

NorthShore University HealthSystem is looking beyond genomic test results alone and is now integrating information with EMR data. This opens up exciting opportunities related to predictive analytics, risk modeling and risk stratification. 

"I'd say we are working toward personalized medicine 2.0, where we layer artificial intelligence, machine learning and natural language processing on our genomic data and our clinical data warehouse," Mr. Brueck said. "I think the next generation of medicine will emerge when we can drive precision care based on how those two rich data sources intersect." 

One reason NorthShore's personalized medicine program has generated a lot of support internally is because the team is building solutions that aren't just genomics solutions. These initiatives will address workflow and data organization challenges across the entire health system. 

"The last thing we want is to have siloed genomic and EMR data that isn't integrated well," Dr. Hulick said. "If that happens, you can't take a holistic look at a patient's health trajectory and do what's best for them in terms of their care." 

NorthShore University HealthSystem intends to deliver genomics for everyone

Unlike other health systems, NorthShore doesn't see genomic testing as the end game. "As we look at personalized medicine, it’s about ensuring patients – and their families – have the most comprehensive care plans, incorporating both traditional elements of care with next generation –‘omics. This requires health systems to address barriers head-on, whether related to education, cost, or access."

To promote health equity, NorthShore will be expanding its genomics program into the north side of Chicago.  Swedish Hospital Foundation provided funds to offer genomics testing to Swedish patients.  The project will support efforts to engage culturally diverse communities, understand how to best position genomics to new patients, and to subsidize testing costs for patients who do not have the financial resources to pay for testing. "We don't want this to be genetic exceptionalism," Mr. Brueck said. "It needs to be genomics for everyone." 

It's important to recognize, however, that genomics for everyone doesn't mean a one-size-fits-all approach to testing. Although family history has traditionally been what prompts physicians to recommend genetic testing, there are limitations to this approach. 

Dr. Hulick believes that polygenic risk scores (PRS) are where the field is going. PRS represents small changes across an individual’s DNA that in aggregate can suggest increased risk of disease – such as prostate or breast cancer -- or conversely be protective.  This form of risk or benefit isn’t captured by family history or mutations in genes like BRCA1/2. "Polygenic risk scores offer the greatest potential from a population perspective to not only identify who needs more screening, but also to back away from people who might not need as much screening," Dr. Hulick said. "Too much screening can cause harm, as well." 

Leaders at NorthShore believe incorporating genomics with other relevant information about patients' health and family history is one of the important ways their organization can improve the health of the community. "I think we are solving the last mile problem of implementation and we're about a quarter of a mile in," Dr. Hulick said. "It's not good enough to just get the test result. You actually have to do something with it." 

Genomics is just the beginning of the "-omics revolution" in personalized medicine

As Mr. Brueck thinks about the future, he believes we're on the precipice of a new era in medicine. "The -omics revolution is upon us and genomics is only one of the -omics technologies," he said. "I think it's just a matter of time until we see other ways that -omics will help tailor an individual's care. We need a system for implementing those advances across large swaths of people, not just one percent of the population." 


Final words

Learnings from the partnerships between an executive and a clinical champion, Mr. Brueck and Dr. Hulick, at NorthShore University HealthSystem emphasize the potential for genomics to improve patient care, generate better healthcare outcomes and usher in a new era of medicine.  

To learn more about how genomics-powered precision health can help your health system visit, click HERE

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