Genomics: The Future Gold Standard of Medicine?

It cuts across everything a hospital is pursuing today. Personalized medicine, with care tailored to the unique genetic blueprint of each patient — perhaps once thought of as science fiction — is becoming a strategic imperative across the entire health care field.

At NorthShore University HealthSystem, in the north Chicago suburb of Evanston, Ill., integrating genetics into everyday care has become its driving force, says President and CEO Mark Neaman. Personalized medicine touches on so many of the hot-button issues that keep hospital executives tossing and turning at night — meeting the demands of consumerism, treating the health of patient populations and preventing hospital readmissions, to name a few.

Emboldened by President Obama’s plans to devote $215 million toward the Precision Medicine Initiative, NorthShore is betting big on genomics. The four-hospital integrated system launched its Center for Personalized Medicine in April, bringing together a number of related endeavors.

There are numerous initiatives competing for hospital leaders’ attention, but Neaman believes personalized medicine should take precedence over most others.

“It’s what’s next in the practice of medicine,” he says. “We’re positioned to make this next move, but you can’t just put up a sign and say, ‘We’re into personalized medicine.’ It takes so many other components, including the talent and the commitment, the technology, and the underlying electronic health record system. You’ve got to have all of these building blocks.”

The idea of tailoring care to each individual based on his or her genetics isn’t new, but it’s picked up steam with several advancements in recent years, says Kathy Hudson, deputy director for science, outreach and policy at the National Institutes of Health, which is spearheading the president’s initiative. Those include improved cost-effectiveness of collecting genetic information from patients, expanding knowledge on how to analyze data at a precise molecular level, and the ability to mine details from electronic health records and mobile devices to gain further insights into a patient’s health, she says.

Already, NIH has convened a panel of experts to figure out the course to making precision medicine a reality. As part of the initiative, President Obama earmarked $130 million toward gathering genetic, environmental, lifestyle and behavioral data from 1 million people across the country — which Hudson acknowledges is an “audacious endeavor.” The work group is slated to deliver a preliminary report to the president in September.

“This initiative, to be successful, is going to have to include active participation from hospitals and health care delivery systems,” Hudson says. “We’re certainly looking forward to getting input, perspective and, ultimately, active participation from all of those folks. And then, the riches that will result from this initiative and other research in precision medicine are really going to transform the way in which we can take care of our patients and improve their outcomes.”

Building genetics into workflow

Meanwhile, NorthShore aims to build its own much smaller repository of DNA samples from 100,000 patients as part of its Genomic Health Initiative. Only one year in, the health system has data from about 6,000 patients, with plans to correlate that information with its own clinical data to help target and treat the health of its patient population. Eventually, staff will be able to see trends and commonalities, Neaman says, and push interventions out to patients before they arrive at the hospital.

Until then, NorthShore is working to integrate personalized medicine into clinicians’ everyday routines. It’s building tools into the EHR system to support clinical decision-making so that doctors at the point of care are alerted if a patient already has been genetically screened or if, based on his or her genetic results, a change in prescribing is warranted. It will take many years to put every piece in place, but certain components already are up and running.

Doug Silverstein, president and top administrator of flagship NorthShore Evanston Hospital, has administrative oversight of the program and meets every other week with physician leaders representing everything from clinical care to labs to research, as well as the Center for Personalized Medicine’s steering committee to talk about integration strategy and how to operationalize personalized medicine across the institution. While executives and the board of trustees are setting the organizational priority, the clinicians are the ones who should drive implementation, Silverstein believes.

“You certainly need the support of the C-suite and your board, but it likely won’t be those people who are involved in it day to day,” he says. “That’s one of the things you see in our organization. Personalized medicine has been established by our board and C-suite as a priority, but then it’s really going to be your clinicians driving it with support from the administrative staff who work with those clinicians and researchers.”

Eric Helsher, vice president of client success for NorthShore’s EHR vendor, Epic, says the system allows hospitals to store biomarkers in its records, and utilize the existing alert system at the point of care. That way, if prior genomic tests reveal that a patient might react unfavorably to a medication, the system can notify a doctor and warn him or her to try a more appropriate drug.

The EHR also allows health systems such as NorthShore to aggregate genomic data at a population level, putting patients into different cohorts based on their biomarkers, and stratifying risk to see which patients are at the largest threat for specific conditions, such as congestive heart failure.

“At an industrywide level, this is the future of medicine,” Helsher says. “Many organizations are headed in this direction, and those who are actively exploring an exact technical and workflow setup or, like NorthShore, are actually doing it, are definitely part of a small innovative group of leaders in this space.”

Education is critical

Beyond the nitty-gritty details of implementing personalized medicine into clinical workflow, NorthShore is educating doctors, nurses and all other employees about the basics of the field. Silverstein says the board has made personalized medicine an organizational priority, and it’s critical that every employee understand the concept.

It recently launched a campaign called “Make It Personal” across the organization, which includes a training model to teach employees such basic information as the definition of personalized medicine and the capabilities of the new center. A “Make it Personal Employee Day” allows workers to tour the new center and ask questions. After just six months, more than 3,000 of NorthShore’s 10,000 employees have already gone through the personalized medicine module.

Training every employee on genomics is all the more important because of today’s consumer-minded patient, Silverstein says. Services such as 23andMe — allowing individuals to provide a saliva sample and learn about their genomic disposition to certain conditions — have fueled consumer interest. So have celebrity activists. Angelina Jolie decided on a double mastectomy after genetic tests showed a high risk of breast cancer. Her widely publicized choice led to a surge in demand for genetic testing, according to Reuters, which some have dubbed the “Angelina Effect.”

NorthShore patient Sivan Schondorf has a history of breast cancer in her family, and initially had genetic counseling in 2000. With a simple blood test in 2005, she found she had a mutation of the BRCA1 gene, meaning an 87 percent chance of developing breast cancer, along with a higher risk for ovarian cancer. After years of genetic counseling and monitoring, she decided to have a double mastectomy in 2009. Since moving back to the Chicago area in 2011, Schondorf has worked with doctors at NorthShore to develop a genetic care plan and has visited every six months or so for screenings to ensure that she doesn’t develop ovarian cancer.

Schondorf, a 34-year-old speech pathologist, believes many patients and even many doctors are unaware of the potential benefits of genetic medicine.

“I don’t think people really understand what personalized medicine is yet,” she says. “They just want to go to a doctor they’re comfortable with and listen to his or her recommendation … . The key is to make sure that all doctors understand what these gene mutations are and just the simple basics.” By becoming more informed, those physicians “can send their patients to the right specialist and genetic counselors and, ultimately, hopefully, have more of a chance to prevent cancer.”

With the unveiling of the integrated Center for Personalized Medicine in April, NorthShore has ramped up education of its patients, too. It has launched an awareness campaign so that those with family histories of cancer or other hereditary disease can come in for genetic awareness assessments, says Peter Hulick, M.D., director of the NorthShore Center for Medical Genetics.

It also hosts community events to inform patients about the genetic tools at their fingertips, and has a centralized hotline patients can call to connect with the center. “The idea is to make it accessible,” Hulick says.

One key piece of NorthShore’s outreach strategy is an app it developed and calls Health Heritage. Patients download parts of their family health history from the network’s EHR, create personalized health reports to share with a family physician, devise care plans, and exchange health information with family members. Patients at risk of developing a chronic disease, for instance, might devise a nutrition and exercise plan with a doctor.

Hulick says savvy health care consumers already are seeking these types of services, and NorthShore aims to attract them and differentiate itself in the market.

“A lot of places say they have a center [for personalized medicine], but we have a mechanism in place where patients can come in and actually get things accomplished that weren’t possible at other institutions,” he says. “From an organizational standpoint, that is one of the key aspects of NorthShore. We’re organized to deliver this type of care.”

Implementation challenges remain

Implementing a personalized medicine program has its hurdles, and payment is one of the biggest. In April, Reuters reported that major insurers such as Aetna, Anthem and Cigna refuse to pay for the newest generation of genetic assessment, called multigene panel testing. Insurers claim such tests are “unproven,” and administering them could lead to having patients seek unneeded care, according to Reuters. Nationally, the landscape for covering personalized medicine tests is “fraught with difficulty,” says Amy Miller, executive vice president of the Personalized Medicine Coalition, which recently issued a report on paying for such care.

At NorthShore, Silverstein says insurers have been slow to cover genomic testing. A few have demonstrated flexibility, with a process for providers and patients to figure out what’s paid for under what circumstances. However, much of the cost remains out of pocket. NorthShore’s strategy is to stay ahead of the trend so it is properly positioned when the switch inevitably flips to value-based care. At that point, personalized medicine will be a key component of preventive medicine and avoiding unnecessary care.

“It will be a slow slog getting insurers to cover this stuff because adding one more thing to pay for is just not something that they’re looking to do,” Silverstein says. ”So you’ve got to be able to start making a compelling argument. And [because] there are [not] enough people who do this type of work yet, an overwhelming case has not hit the marketplace yet.”

Another challenge: While the money and time required to sequence the human genome has dropped dramatically in recent years, it takes a tremendous amount of hard drive storage for such data. Intel Corp. estimates that if just 10 percent of the U.S. population had its genome sequenced, about 313 exabytes of storage would be required — that’s 313 billion gigabytes.

Attracting talent to fill out a personalized medicine program is also an issue, NorthShore leaders say. Most physicians and nurses have little training in it, and experts estimate the field already has 30,000 fewer clinical geneticists than required. Last year, NorthShore hired a clinical specialist in pharmacogenetics, and, Silverstein says, “we were very fortunate to get somebody” as highly qualified. “There aren’t a lot of them being put out by the schools.”

Medical schools have taken note, including NorthShore’s academic partner, the University of Chicago Medicine. The medical school is weaving genomics into its curriculum, says Peter O’Donnell, M.D., assistant professor and researcher in the field of personalized medicine, and has already instituted a course on pharmacogenomics, the study of how different genetic traits affect a patient’s reaction to particular drugs. Students seem increasingly enthusiastic about personalized medicine O’Donnell says, noting that in some of his lectures he’s asked if anyone has used 23andMe and more than half raised their hands.

Schools must embrace that excitement with a robust genetic curriculum, he says. “It falls in line with the whole social media movement in our society,” O’Donnell says. “The sharing of personal information is considered much more commonplace, and so today’s medical students see that as a natural progression. Why wouldn’t I know and have shared my genetic information as part of my health care?”

The enthusiasm also must be shared by hospital leaders. Clinical leaders need to demonstrate to boards and executives that the future of health care hinges on personalized medicine, says Janardan Khandekar, M.D., director of the NorthShore Center for Molecular Medicine.

While the Center for Personalized Medicine isn’t yet a revenue generator, Khandekar believes it will have a direct impact on the bottom line in soon. “This is the investment that you make for the future,” he says. “I was speaking at one hospital recently and one of the first questions was, ‘So how much money do you make?’ I said, ‘I don’t think we make any direct money at this time,’ but in a very short time, if we don’t do this, we will lose a lot of money because patients will leave us.” 

The components of NorthShore’s Center for Personalized Medicine

Several disparate pieces, some in existence for years, are all being wrapped into one to form NorthShore University HealthSystem’s Center for Personalized Medicine, which was launched in April.

Center for Medical Genetics

One of the largest adult genetic counseling centers in the country, which incorporates genomic information with the latest genetic technology and information to personalize care.

Center for Molecular Medicine

Translates research into clinical practice using DNA analysis and integration with the health system’s electronic health record.

Personalized Medicine Consult Clinics

Offer specialized care in oncology and cardiovascular clinics.

Pharmacogenomics Clinic

One of a select few clinics in the nation that pre-emptively provides genetic testing to help predict how patients will respond to certain drugs.

Department of Pathology and Laboratory Medicine and the Molecular Diagnostic Laboratory

Comprising multidisciplinary pathology experts using advanced tumor diagnostics and DNA analysis.

Genomic Health Initiative

A research study that is collecting 100,000 DNA samples to understand the correlation between genomics and disease, paving the way to more effectively managing patients’ health on a larger scale.

Source: NorthShore University HealthSystem, 2015

Executive Corner

Here is a sampling of terms commonly used in personalized medicine.

Biomarker: A characteristic that is measured and evaluated as an indicator of normal biological, pathogenic or pharmacologic responses to a therapeutic intervention. (Institute of Medicine)

Classical or formal genetics: The study of the transmission of single genes within families and the analysis of more complex types of inheritance.

Clinical genetics: The diagnosis, prognosis and, in some cases, the treatment of genetic diseases.

Genetics: The scientific study of heredity. Human genetics today comprises a number of overlapping fields, including: (MedicineNet)

Genetic counseling: An important area within clinical genetics involving the diagnosis, risk assessment and interpersonal communication.

Genome: An organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome — more than 3 billion DNA base pairs — is contained in all cells that have a nucleus. (Human Genome Project)

Personalized medicine: Also referred to as individualized or precision medicine, customizes a patient’s care and treatment plan based on his or her unique genetic characteristics and health history — often described as providing “the right patient with the right drug at the right dose at the right time.” More broadly, personalized medicine may be thought of as the tailoring of medical treatment to the individual characteristics, needs and preferences of a patient during all stages of care, including prevention, diagnosis, treatment and follow-up. (FDA)

Pharmacogenetics: Testing for specific genetic variations and how they affect individuals and their response to some drugs. (Genelex)

Pharmacogenomics: The overall study of the many genes that can affect individual differences in drug response. (Genelex)