How Genomics Take Personalized Medicine from Reactive to Proactive

The first human genome was published in February of 2001, nearly ninety years after geneticist Alfred Sturtevant created the first genetic map of a chromosome. Personalized medicine advancements are now occurring at rapid pace, but challenges exist for broad implementation.

NorthShore University HealthSystem, a four-hospital health system outside Chicago, has taken on this challenge and has been integrating genomics and personalized medicine advancements into its standard clinical practice. To learn more about the challenges they’re working through, and the opportunities on the horizon they seek to leverage, we interviewed Peter Hulick, MD, NorthShore’s director of the Center for Personalized Medicine.

Oliver Wyman Health: What have you learned from observing this sector since NorthShore first launched its Center for Medical Genetics in 1997?

Peter Hulick: While early on testing was prohibitively expensive and considered by some esoteric, the increasing availability and lowering of cost of clinical options and privacy issues (such as GINA) being addressed have allowed us to broadly begin to incorporate genomic data into routine clinical care.

As demand, both from patients and clinicians, for genetic information has become more commonplace, we’ve noticed that although different parts of our system are using genomics data for various purposes, they encounter similar challenges around reimbursement, patient education, and information storage. We started to see “siloed solutions” developing that did not integrate as well as we liked. That led us to the creation of the Center for Personalized Medicine to solve these issues and bring a system-wide solution. The center taps local physician champions of genomics in areas such as hereditary cancer, diabetes, and cardiac care. We also regularly convene leadership from our pathology services, primary care, health IT, administration, and other functions to advance the adoption of genomics into our clinical practice. As a result, we are now able to deploy genetic testing in a systematic manner across our primary care network. For example, we are consistently developing and deploying clinical guidelines across the system or the ways we store and imbed genetic information in our electronic medical record.

OWH: What is the scope of genomic use at NorthShore today?

PH: Last year, we began using the Genetic and Wellness Assessment (GWA), an electronic risk-assessing tool used to screen patients in advance of annual physical visits. It helps identify patients for which targeted testing may be indicated, such as hereditary breast and ovarian cancer, but also provides an option for proactive screening through a “healthy gene panel” in collaboration with Invitae and pharmacogenomics testing, which we perform in-house. Thus, the shift from purely reactive testing to incorporation of proactive testing options that patients are seeking, which largely has been ignored by traditional health systems.

So far, we have screened nearly 80,000 patients. Once completed, one in two patients on average will have a Best Practice Alert triggered, indicating they will benefit from some form of genetic risk assessment or are interested in one of our proactive testing options. Testing can inform patients about genetic based risk for cancer, or cardiovascular diseases such as cardiomyopathy or arrhythmia as well as which drugs might work better or should be avoided in their care.

As we make genetic testing and information readily available, we find it has a positive effect on doctor-patient relationships. Our patients appreciate the proactive attention when we can offer personalized care which leads to better trust and stronger long-term relationships. We’ve seen examples when even if a preliminary screening indicates no need for additional testing, patients feel reassured we are taking extra steps to support their long-term health and well-being and looking at a “more complete” look at their health risks.

Our personalized medicine program is closely integrated with NorthShore’s research arm which allows us to move quickly to clinical application. For example, in collaboration with Ambry Genetics, we developed a polygenic risk score for breast and prostate cancers. In this partnership, NorthShore acts as the accelerant, testing scientific applications in the field and bringing the innovation to our patients first. We help the patients sort through their options to take preventative measures. These can range from frequent screening, lifestyle choices around diet and nutrition, medications to be taken regularly, or preventative surgery. For example, we had BRCA2 positive patients who opted for Mastectomy given their elevated breast cancer risk. 

OWH: What challenges have you encountered in scaling the use of genetic information in patient care?

PH: Education, education, and education, for both physicians and patients! There is no way to overstate this. Given the amount of clinical knowledge medical students are expected to acquire today, there is very limited genetics training provided in medical schools and residency programs. Very early on, we realized we cannot make every one of our physicians a genomics expert. The goal is to provide a sufficient level of understanding to interpret results, discuss them with patients, and support them with information “in the moment.” Moreover, the science is fluid and evolving – we cannot take a "one and done" approach here. This is an ongoing effort.

Patients, on the other hand, are spread between two extremes – early adopters who believe genomics can prevent and cure any disease they may be at risk for, and traditionalists skeptical of science and concerned with privacy implications. Our job is to educate both groups about the real benefits and limitations of genomics. We see an adoption curve here, not unlike adoption of many consumer technologies.

Lastly, payers seek proof that genetic testing and services have direct impact on cost and outcomes. Patients still need to pay for some tests out-of-pocket. And billing and reimbursement are not as streamlined as we would like it to be but real progress is being made.

OWH: How is NorthShore handling genetic data’s integration into physician workflow as a potential barrier to adoption?

PH: We were once attaching test results in PDF format to the patient record. Although this was sufficient to review one test result at a time, it did not allow us to have a comprehensive view of the patient’s genetic makeup. Over the years, we’ve customized our EMR. We can now store genetic variant information as discrete variables. We’ve been successful with pharmacogenomic and tumor genomics data and are using this experience as the foundation for other areas. We now have Best Practice Alerts that “fire” when physicians are interacting with the patient’s record and recommend courses of action.

OWH: How do the roles of genetic specialists compare to primary care physicians (PCPs)?

PH: There is a need for both roles. I view this similarly to other conditions primary care is handling with specialist support – for example, heart failure. The PCP can talk with the patient to lay out treatment options and implications. Genetic specialists provide support when management is out of their comfort zone.

Perhaps surprisingly, we don’t see a generational trend in the adoption of genetic information in primary care. Adoption is led by physicians who feel more confident in face of adopting other innovations, regardless of age. They have seen cycles of past clinical innovation and are adept to including it in their practice.

OWH: As you look 3 - 5 years ahead, what are you most excited about when it comes to the use of genomics in patient care?

PH: Polygenic risk scores (such as understanding risks for certain diseases by weighing multiple genetic variants) is a promising development we are adopting. Most genetic risk is not explained by single, strong genetic factors like BRCA1 and BRCA2, but rather smaller changes that in aggregate can convey similar risks. It will allow us to increase the scope of genetic risk assessment to offer tailored screening and prevention options. Ultimately, to identify those who need more intervention and identify those patients where it may be okay to screen less. This would lead to better usage of medical resources.

We are also developing care pathways incorporating genomic information, informed by our growing amount of clinical data of treatment and response. We want to continue to refine deployed interventions based on the developments in the field of genomics as they become clinically relevant. Part of this process is to integrate alerts and processes to ensure patients and their physicians are informed systematically about new developments, and their care plan is based on the most current genetic information.

Ultimately, I am excited with the prospects of even lower cost and wider spread of genetic testing. The science allows us to prevent, detect and treat diseases that would have saddled the patient with health burden, lifestyle impact, and cost. Advancements will allow genetic testing to be viewed not as an added cost but as a long-term investment in health.