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NorthShore, Sema4 Partnership Aims to Demonstrate Utility of Genomics for Personalized Care


A previous version of this story misspelled the name of Kristen Murtos.

CHICAGO – The recently launched genomics collaboration between NorthShore University HealthSystem and genomic testing and bioinformatics firm Sema4 is building on a series of other precision medicine programs the Evanston, Illinois-based organization has undertaken.

Last month, the two organizations said that their program will apply analytics, including artificial intelligence and predictive modeling, to genetic and clinical data to help prevent, detect, and treat diseases at an early stage. NorthShore clinicians and patients will have access to Sema4's genomic tests for hereditary cancer, cardiovascular diseases, pharmacogenomics, and rare diseases.

"These models will serve as a tool to guide personalized care decisions, directing NorthShore clinicians and their patients toward optimal care," Sema4 CEO Eric Schadt explained. 

The new partnership follows a pilot project called DNA-10K that NorthShore struck with DNA testing firm Color in 2019 to integrate genetic testing into primary care. Work performed under that program evolved into a long-term partnership with Color and molecular clinical decision support technology vendor ActX last year.

Kristen Murtos, chief administrative and strategy officer at NorthShore, said that the six-hospital system is constantly on the lookout for partners that share the goal of more closely integrating genomics into patient care. "We see this [program] as a critical point of differentiation in our care and strategy," she said.

In this case, Sema4 and NorthShore will be working at standardizing the creation, delivery, analysis, sharing, and application of genomic data on the front lines of care, particularly in underserved communities, according to Schadt.

Specifically, NorthShore offers patients an online "genetic wellness assessment" after they schedule an annual physical, inquiring about family medical history. This helps physicians formulate care plans and determine whether to discuss genetic testing with each patient.

According to Schadt, if the assessment indicates that a patient is not at high risk for hereditary cancers such as breast, ovarian, or prostate cancer, NorthShore will be able to offer a test to create polygenic risk scores. Those who do appear to be at elevated risk will have the option to take one of Sema4's hereditary cancer tests, which includes a 112-gene "universal" panel and several organ-specific subpanels, all based on exome sequencing data.

NorthShore started offering the program last month to patients treated at Swedish Hospital, considered a safety net under Illinois Medicaid rules and located in a federally designated medically underserved area of Chicago. The organization is, however, making the program available systemwide as of this week.

One application of the partnership at Swedish will be providing polygenic risk scores for heritable cancers to people of multiple ancestries, according to Schadt. NorthShore also will have access to Sema4 testing and analysis for cardiovascular disease, rare diseases, and pharmacogenomics.

NorthShore took over the former Swedish Covenant Hospital last year, giving the health system its first hospital in the city of Chicago. 

NorthShore will subsidize genetic testing for eligible patients who cannot pay for it through a gift of undisclosed size from the Swedish Hospital Foundation. The gift is also helping NorthShore translate patient educational materials into multiple languages, Murtos said.

The organization's suburban hospitals in Evanston, Skokie, Glenview, Highland Park, and Arlington Heights also see plenty of low-income, minority, and immigrant patients, though they are located in rather affluent communities.

"This will be something that will become broadly available across all of our populations," Murtos said of the program.

Schadt said that the partners hope to build on NorthShore's "backbone" of whole-exome and low-pass whole-genome sequencing for genomic risk screening, pharmacogenomics, and even "recreational" information like genetic predisposition to a bad aftertaste from eating cilantro.

In working with NorthShore, Schadt said that Sema4 aims to make genomic information "a more routine part" of the electronic health record at the point of care. Some of that genomic data can be run through clinical decision support engines like the one ActX supplies to NorthShore.

Stamford, Connecticut-based Sema4, a spinout of Mount Sinai Health System that is preparing to go public by merging with a special purpose acquisition company, offers genetic testing as well as technology that combines clinical information with genomic analysis to understand how genetic variants will influence a patient's risk of developing disease. Patients can also consent to share their data with researchers.

At the core of the NorthShore partnership, according to Murtos, is demonstrating the value of genomic data to patients as well as clinicians by providing relevant genomic intelligence at the point of care, through NorthShore's online patient portal, and in patient-specific educational material.

"How does it impact care and choices I can make today by making things more accessible and more understandable?" Murtos said. "We like to say the last mile is making [genetic tests] value-added and understandable to not just the clinician, but also ultimately to the patient or their family members."

Schadt said that the healthcare industry is still trying to establish best practices for delivering precision medicine, but he, too, emphasized the importance of establishing the value of genomics for patients and their families.

Early on in the collaboration, Sema4 and NorthShore will be looking to optimize abstraction and structuring of clinical data. They also will have to decide which pieces of genetic testing data should be directly integrated into the EHR so clinicians do not have to consult separate systems unless they need to dig deep into genetic tests, according to Schadt.

Murtos said that NorthShore also will be paying attention to the public reaction to the program to understand interest in and utilization of genetic testing services among different demographics. NorthShore was an early adopter of surveying patients and mining EHRs for assessing risk for many diseases and to inform population health and preventive care, and the partners expect that history to carry over to this new program.

"As we focus on some of the more routine journeys of patients like pregnancy, where there's a lot of information in the medical record data on patients, if those data are brought together [with genomic information] in the right ways with the right models, we can help better characterize patients for complications," Schadt claimed. "Can we get to better, more predictive models that enhance the standard-of-care assessments on patients regarding whatever health course they're on?"

The COVID-19 pandemic has caused the postponement of preventive care and elective procedures. In announcing the partnership, NorthShore and Sema4 said that including genomic data can help patients and medical professionals better prioritize care.

Schadt said that NorthShore's experience in precision health enables an organization like that to keep up as medical knowledge evolves.

Indeed, the collaboration will be an evolving experiment, according to Schadt, who also serves as dean for precision medicine at the Icahn School of Medicine at Mount Sinai in New York. "Nobody has the exact right solution today," he said.

"I'll dare say we will never stop evolving and aspiring to make it more integrated, more actionable, and easier for our clinicians," Murtos added. "That is part of the opportunity and a continued work in progress."

With Sema4, NorthShore expects to be able to make genomics more accessible to more diverse populations, such as it is attempting at Swedish. Murtos said that the partnership also allows NorthShore to look at what's next for its genomics program.

One future possibility is applying Sema4's artificial intelligence to help understand genetic risk in patients "across the entire care journey," she said, and to define "additional things to better understand both the impact on care quality, but also patient experience and clinical outcomes."