How Genetics Can Improve Population Health

By September 7, 2023 Proactive Health

Population Health Programs

You may have been hearing lots of buzz lately about the term “population health.” While the concept has been around for some time, it’s increasingly in the spotlight. One reason is because, as genomic information becomes more accessible and available, innovative health systems and hospitals are developing population health programs for the communities they serve.

What is Population Health?

The definition can vary somewhat, but the basic idea of population health is for the health care team, researchers and the community to gain a deeper understanding of the current and long-term health risks faced by a particular population. The goal? To reduce those risks, detect disease early and provide the most appropriate treatments at the optimal time. The overarching aim is improved health.

The Centers for Disease Control and Prevention (CDC) notes that population health “brings significant health concerns into focus and addresses ways that resources can be allocated to overcome the problems that drive poor health conditions in the population.” [1].

There are multiple ways that a health system, hospital or other entity might seek to bring health concerns into focus. For example, some might examine how social determinants of health—like pollution levels or access to healthy food—affect the populations they serve. Others are leading a deep dive into our genomes — the sum of our genetic make-up — to  find out what proportion of their communities are at high genetic risk for conditions like diabetes or hereditary cancer and to make discoveries about how our genes influence our health.

Genomics in Population Health

By bringing genomics into the mix, hospitals and health care systems can add an important dimension to their understanding of the health issues facing their populations. Providing genetic screening on a routine basis—and combining the results with other health data such as the individual’s electronic health record (EHR)—can help health systems discover which of their patients are at high risk for particular diseases or are carriers for heritable conditions. A few health systems have started offering genetic screening of their patients and have identified thousands of people who are at increased risk of developing cancer, heart disease, heart attack and other serious conditions. Most did not know that they carried these genetic risks. [2]

With genomic and clinical information in hand, individuals and their doctors can collaborate on ways to help the individual reduce risk. In some cases, that will mean making lifestyle changes; in others, it will mean monitoring for symptoms that can be treated most effectively when detected early. People with personal or family medical histories of particular conditions need care that’s not one-size-fits-all, but tailored to them. As importantly, when a genetic diagnosis is made in one individual, an entire family can be tested to see if they have the same risks. A single test can provide information that can benefit dozens of family members.

Why is Population Health Important?

Population health, as the name implies, affects everyone. Programs that aim to better understand and improve the health of a particular group can reduce suffering and improve health outcomes within that group.

At Genome Medical, we think of population health as a way to optimize how health services, informed by genomics, are delivered to all people who need them, throughout their lives.

Hereditary cancer is one good—and pressing—example. Today, about half of the people who have genetic variants, or changes in their genes, that increase their risk of hereditary cancers don’t meet the current guidelines governing who should receive genetic testing and counseling. And among the other half who do fit the current guidelines [3], only about 15 percent to 20 percent are actually receiving the recommended genetic services. [4]

With a population health program that includes genetic screening, health systems and hospitals have a much better chance of identifying those at greatest risk. And that helps them work with individuals to take timely, appropriate action to prevent or reduce the impact of these cancers.

PopHealth vs. Public Health: What’s the Difference?

While there is some overlap between population health and public health, public health is defined more broadly. According to the CDC, it can be defined as “what we as a society do collectively to assure the conditions in which people can be healthy.” In other words, public health “works to protect and improve the health of communities through policy recommendations, health education and outreach, and research for disease detection and injury prevention.” [5]

Population health, on the other hand, is focused on understanding and improving the health of particular communities, such as those served by a specific health care system.

Improving Through Studies

Population health programs can have a far-reaching impact when they include a research component. For example, the Healthy Nevada Project is the largest community-based population health study in the world. In it, some 50,000 Nevada residents will have the opportunity to discover their genetic risks for heart disease and certain cancers, as well as be provided with ancestry information and dietary insights. [6]   The Healthy Nevada Project selected Genome Medical to provide genetic counseling for participants who receive medically meaningful results, which allows participants and their families to learn how to incorporate their genetic results into their medical care.

The project plans to use the data gathered from these individuals to make long-term projections about disease and illness risk for the state’s entire population. The hope is that the effort will allow future needs to be addressed not in a one-size-fits-all fashion, but in a targeted way that meets the specific needs of the population. It’s a leading example of how genetics can improve population health studies.

The findings of population health studies like these can form the foundation of future planning, allowing health systems, hospitals, agencies and governmental organizations to preview future needs in order to provide the right resources, at the right time, to the people they serve.

Getting Started with a Program

If you work within a hospital or health system and would like to explore starting a population health program, or want to expand an existing initiative, please contact us. Our population health team has extensive experience in this area, joining Genome Medical from the leadership team of Geisinger Health System,one of the pioneering population health programs built by a hospital or health system. Geisinger’s MyCode Initiative has sequenced the exomes (the part of the genome that contains our genes) for more than 144,000 Geisinger patients and has returned medically actionable results to almost 1,500 participants. We provide genetics services for health systems and hospitals throughout the country.

Our services include

  • strategic advice and guidance
  • program development and implementation support for large-scale initiatives
  • engagement of patients and providers
  • genetic testing coordination
  • return of clinically meaningful results to both patients and providers

Connect with us to learn more about bringing the benefits of population health to the people you serve.

About the Author:  Erica Ramos, MS, CGC

Erica develops the company’s strategy, value proposition, and overall approach to population-scale initiatives utilizing genetics and genomics. Prior to joining Genome Medical, Erica focused on developing programs to accelerate the responsible adoption and integration of genomics into preventive care and population health with organizations like Geisinger Health and Illumina.