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Healthcare: It’s Down to Our Genes


Many consider the ultimate aim in healthcare to be precision medicine that accounts for a person’s genetic make-up, environment and lifestyle to better detect, diagnose and treat diseases. With greater precision, we have greater potential to improve outcomes and save costs. But how do we look at genomics on a larger scale?

Enter Population Health Genomics

The genomics era began in 2003 with the completion of the Human Genome Project, a high-profile $2.7 billion dollar, 13-year project mapping out the DNA blueprint for a human being. Since then, President Obama launched the Precision Medicine Initiative to revolutionize how we improve health and treat disease.

However, moving from the one-size-fits-all approach to precision medicine model takes time.

Using genomics to understand how it contributes to a population’s overall health and well-being is called population genomics or public health genomics. It allows clinicians and researchers to better understand disease, improve public health and reduce disparities using population insights to ultimately benefit individuals.

Why Now


Source: Wetterstrand KA. DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP) Available at: www.genome.gov/sequencingcosts.... Accessed Feb. 4, 2022.

The cost of sequencing a human genome has dropped from $2.7 billion in 2003 to less than $1,000 in 2020. In addition, an increasing number of people are using direct-to-consumer genetic tests at a cost of less than $100. In the coming era of precision medicine, more and more people will be obtaining their own whole-genome sequence.

In addition, the more we learn about genomics, the more we see it having an integral impact on a person’s risk profile. Many are unaware that genomics plays a role in nine of the ten leading causes of death.

Many diseases, including cancers, are caused by alterations in our genes. By identifying these alterations through genomics, people can gain valuable information about their risk for these diseases throughout their entire lives.

Because genomics can help provide information about a patient’s risk long before disease symptoms present, it can be used as a screening tool and a way to characterize certain health conditions – enabling faster actions. Early diagnosis often significantly increases the chances of successful treatment. Using genomics in this way may drive beneficial clinical interventions, medication selection, and escalation or de-escalation of treatment to improve health outcomes and symptom management over the course of a lifetime.

‘Omics’ Sciences: The Next Frontier

Population genomics programs have a compelling return on investment, addressing common challenges that clinicians, hospitals and health systems face. Genomics drives precision medicine, allowing clinicians to reach the right patient with the right therapy at the right time.

Having this genetic data as part of an electronic medical record (EMR) can help improve patient engagement, provide consistent follow-up, and use it in clinical research efforts to impact future medical solutions for populations with similar risk profiles. It can also lead to higher quality care at a lower cost, as the data is used to identify unique genetic markers that will help catch more at-risk patients earlier. When these at-risk patients are discovered, clinicians can create preventative care plans in partnership with their patients, and implement guideline-driven medical solutions, while positively impacting total cost of care.

By increasing access to genetic testing, especially in underserved communities, health systems can also increase diversity among clinical trial participant pools, address disparities and help develop future medical solutions.

Making It a Core Data Capability

PINC AI Applied Sciences (PAS) is built on a data-driven foundation that includes cost, quality, operational and outcomes data from more than 1,164 unique hospitals and healthcare systems, spanning the continuum of care.

This real-world data (RWD) serves as a valuable resource for the pharmaceutical and device industries, academia, federal and national healthcare agencies, as well as hospitals and health systems.

Incorporating genomics will enhance PAS capabilities and help clinicians derive actionable insights to improve patient outcomes.

How PAS is Doing This Work

PAS is exploring population genomics that can help impact hereditary cancer, cardiovascular disease, pharmacogenetics and carrier screening through collaborations with companies such as Helix and C2i Genomics.

The recent collaboration with Helix will enable a broader launch and implementation of population-scale genomics programs to accelerate the integration of genomic data into patient care.

Through this work, PAS is connecting members to population genomics programs that are clinical in nature, but have an important research backbone. PAS aims to deliver actionable insights to care providers to help them deliver more personalized medicine.

These programs may help hospitals and health systems achieve savings, drive better clinical outcomes and provide researchers access to a turnkey platform to help enable additional genomic discovery and analysis that could continue to provide greater insights on how to incorporate genomics into patient care. All this will help health systems implement enterprise-wide genomic approaches and maximize value creation across clinical care and research.

Population genomics aids in research aimed at evaluating new therapies and interventions and assists in identifying hard to find trial participants with specific genetic markers, which helps save researchers valuable time and money typically invested in participant identification. This can help clinicians when studying rare diseases and generate the real-world data and evidence needed to support regulatory filings and speed solution time to market.

Why It is the Future of Data

Population genomics as a part of EMR records can become a stable, persistent source of information about people, akin to physical measurements, such as weight or blood pressure, exposures such as smoking or alcohol use, and (in many ways better than) self-reported family history.

Data shows that many minorities disproportionately experience chronic disease and premature death compared with white individuals and the COVID-19 pandemic highlighted the disproportionate burden of illness and death among racial and ethnic minorities.

It is critical to provide more equitable access to genomic services to avoid another 'information disparity’ situation that can impact the reliability of clinical genomic interpretation for under-represented minorities. We must provide access to genomics for all, regardless of ethnicity, geography or ability to pay.

With genomic profiles, clinicians and researchers can determine a populations’ risk for cancer, heart disease and other conditions. Using population genomics data in disease prevention through collaborations like these, is the future of the real-world data and evidence generation.

Learn more about how PINC AI™ Healthcare Data can help you drive informed clinical decisions to improve quality and lower costs.

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