Implementing Precision Population Health: Delivering on prevention for people with hereditary cancer syndromes

Precision health means that healthcare services and interventions are tailored to the needs and circumstances for individuals, and it has the potential to greatly improve cancer health outcomes. For instance, one exciting advance is the development of molecular tumor profiling to guide the use of targeted therapies to optimize disease management. Precision health can also be tailored to other characteristics of the individual, their behavior, and their environmental exposures. Interventions can be culturally tailored to support patients in uptake of and adherence to a treatment plan, even when the treatment itself would be the same for everyone. Continuous monitoring systems can customize drug dosing to maintain therapeutic stability and prevent complications. Prevention strategies can be tailored to individual level of risk to provide more intensive strategies for those at high risk, while minimizing cost and exposure to harm for those at relatively low risk.

While in theory, precision health has the potential to save lives, reduce costs, and minimize harms, the reality might not live up to its potential. One reason is that it may be more difficult for health systems to consistently deliver individualized care compared to a “one size fits all” approach. The added complexity of customized or tailored disease management creates new opportunities for failure in the health system. The person’s risk or treatment profile must be accurately assessed and categorized. The management strategy must match the risk or treatment category. The system must support multiple management strategies that can differ in frequency, intensity, or modality. To get the “right treatment to the right person at the right time” and to do this every time for every person requires a robust and resilient system. It requires the integration of precision health, population health, and implementation science.

Understanding and meeting the needs of people with hereditary cancer syndromes illustrates the need to integrate precision health and population health strategies. Individuals with hereditary cancer syndromes have substantially increased risk for one or more cancer types. Fortunately, there are risk reducing strategies to mitigate these risks, often through screening and early detection. Yet, despite decades of research and work in the medical genetics community these conditions remain under-identified and these strategies under-implemented. Even if a person has successfully navigated a diagnosis, individuals often struggle to get the customized care they need.

Broadly speaking, several strategies have been employed to identify individuals with hereditary cancer syndromes including selective screening, universal tumor screening, and, more recently, population-based screening. Selective screening means that only some people will be offered genetic services based on high risk from known cancer history in the person or their family members. Universal tumor screening programs systematically test the tumor for every newly diagnosed cancer patient in a ‘one size fits all’ approach. This is followed by cascade screening in family members to identify other at-risk individuals. Population-based screening is currently being studied, where every person is eligible for genetic services regardless of family or personal history of cancer.

Each of these strategies is challenging to implement consistently at scale for a variety of reasons. For selective screening, family history is usually documented by patient report, which can be incomplete or inaccurate, and it is time consuming to collect in sufficient detail. Furthermore, non-specialist providers often lack the necessary resources or information to assess risk and may fail to act when a referral is indicated. For universal tumor screening, the second step of cascade screening in family members is challenging. Health systems mostly rely on the index patient to communicate with their family members because of privacy concerns, and even when genetic testing for the familial variant is offered at no cost to the family, there are few eligible family members who opt in to get tested. For population-based screening, many questions remain such as when to test, which test to use, and effectiveness of this approach, to name just a few. In addition, the risks for individuals who do not have a strong personal or family history of cancer is less clear, so there is uncertainty about the clinical utility of more intensive management.

A wide variety of implementation strategies have been evaluated to overcome these challenges including education and training, using digital health tools, different methods of outreach, reminders, and task shifting to address a limited genomics workforce. More recently, there has been greater attention on implementation strategies to reduce disparities such as translating and adapting materials, reducing barriers to access and travel, training interpreters, and engaging communities. The field of genomics, in general, must overcome public attitudes and beliefs about genetic discrimination, genetic exceptionalism, and genetic determination. Population wide programs in genetic and health literacy have been deployed, and celebrity voices have been effective in capturing the public interest in hereditary cancer syndromes.

There is a growing population of individuals who have been identified with a hereditary cancer syndrome through advances in the field of genomics and addressing under-identification of these conditions. This has led researchers and providers to confront the next challenge, which is ensuring that people receive the customized care that they need to mitigate their heightened risk for cancer. While sometimes these risks are managed through pre-emptive surgery, many people are managed through more intensive cancer surveillance that starts earlier, is more frequent, and may use different screening modalities than for the average risk population. Unfortunately, there is often a wide gap between recommended care and the actual care received, and more attention to (and study of) implementation is still needed. Remaining up to date on screening protocols is challenging for many people in the long term. While primary care providers are aware of hereditary syndromes, the information can be difficult to find in the medical record, and the conditions are perceived as rarely encountered in their practice (exacerbated by under-identification). Providers may have limited familiarity with specialized surveillance recommendations that can change over time, and they may rely on the patient or specialist expertise for support. Some patients describe taking responsibility for managing their surveillance and having a lack of routine support from health systems. In health systems without a dedicated high-risk clinic, it can be unclear who has primary responsibility for coordinating and managing this care. We know that population-level implementation strategies can be effective in reducing the gap in adherence to guideline recommended care for average risk populations. Similar strategies are needed for high-risk populations with hereditary cancer syndromes.

This example illustrates the general challenges that will be faced in implementing precision health. To truly realize the benefits of precision health we need integration with population health strategies to ensure that precision health works every time for every person. Implementation scientists can design strategies to support precision health by incorporating interventions to reduce inequities, by including a comprehensive mix of interventions, and by addressing barriers in an integrated way. Incorporating these practices within a learning health system that measures, monitors, and reports on progress towards a clear objective could be an additional improvement. Finally, we must take care to strike the right balance between the effectiveness of precision care for the individual and the effectiveness of systems of care for the population. Implementing a combination of precision and population health strategies is the key.

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Katrina A.B. Goddard, PhD
Dr. Katrina Goddard was appointed Director of the Division of Cancer Control and Population Sciences (DCCPS) in October 2021. In this position, she oversees a division that covers a wide range of scientific domains and disciplines, including epidemiology, behavioral science, surveillance and statistics, cancer survivorship, and health services and outcomes research.
Dispatches from Implementation Science at NCI

Dispatches from the Implementation Science Team, is an episodic collection of short form updates, authored by members and friends of the IS team representing a sample of the work being done and topics that our staff are considering for future projects. Topics address some of the advances in implementation science, ongoing issues that affect the conduct of research studies, reflections on fellowships and meetings, as well as new directions for activity from our research and practice communities.

Last Updated
February 02, 2023