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What is Population Genomics?

In order to explain the concept of population genomics, it is helpful to examine (or consider) the origins of the two areas of healthcare: genomics and population health, that form its foundation. defines “genomics” as the study of all of a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment.

“Population health” was first defined in the American Journal of Public Health in 2003 as the health outcomes of a group of individuals, including the distribution of such outcomes within the group. The authors argued that the field of population health included health outcomes, patterns of health determinants, and policies and interventions that link these two.

When these two concepts are combined with a highly evolving healthcare ecosystem, advances in DNA sequencing technology, and new value-based payment models, the result is population genomics. The National Human Genome Institute has developed a broad research definition that defines population genomics as “the application of genomic technologies to understand populations of organisms.” But while the idea of studying genomics to learn more about populations has its origins in research, over the last decade, the clinical applications of genetics have remained limited to individual cases in rare diseases, oncology, obstetrics, and gynecology and more recently in behavioral health and psychiatry with pharmacogenomics, which studies how a person’s genes affect how they respond to medication.

So that brings us back to the original question, and perhaps an expanded version – what is population genomics? And how can population genomics be applied in the broader clinical setting?

At Helix, we define population genomics programs as those that implement genetic testing across large-scale, non-restricted cohorts of patients, such as the populations of health systems, communities, and regions. It aligns the patient health information typically found in the medical record with patient genomic data to enable the use of actionable genetic insights at the point of care.

As a company, we believe that all people should be empowered to improve their life through DNA, but to fully realize the power of genomics in healthcare, health systems, and clinical providers must play a key role in delivering this care. Therefore, population genomics programs at Helix offer end-to-end solutions which empower health systems to maximize their potential in this care delivery. Want to learn more about population genomics and how it can be leveraged by health systems to improve outcomes, manage populations and accelerate personalized care?

1. Kindig, DA, Stoddart G. (2003). What is population health? American Journal of Public Health, 93, 366-369.


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