This is part 1 of a 3 part series on how employers can leverage genomics for healthcare cost control and more.

Some time ago, a colleague asked me what I thought of genomic medicine for employers.  At the time leveraging this technology was in its ‘toddler years’ with a few solutions entering the market.  These early solutions appeared like shiny objects or a short-lived trend.  However, this application of technology has matured in a very short amount of time, producing some early and significant returns and demonstrating a rapid expansion in capabilities, with now over 50,000 tests available leveraging answers to some aspect of the human genome.


The National Human Genome Research Institute (NHGRI) defines genomic medicine as "an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use."

Advances in genomic sequencing of DNA and lowered costs have led to the mass marketing of direct-to-consumer (DTC) tests.  With a simple home test you can identify your ancestry, inherited traits (including metabolism), and health risks for chronic conditions.  In theory, this DTC testing should help direct life decisions, such as making healthier behavior choices.  However it is critical to understand that genetic risk is not a guarantee for either developing a condition with a positive screen, or not developing the test with a negative screen.

DTC targets the curious proactive consumer, whereas the other more clinically directed lines of pharmacogenomics and proteomics helps clinicians decipher which medical treatment will most precisely address the problem at hand in a more reactive fashion—providing precise medical decisions or precision medicine.


Genomics, as a healthcare solution, has expanded to include the study of specific tumor-cell protein expression for chemotherapy decisions (proteomics), using DNA patterns to identify which medications will be metabolized for beneficial effect (pharmacogenetics), and using recognized patterns in the whole genome to identify risk of chronic conditions (a population perspective to precision medicine).  I’ll address the latter two in upcoming blogs.

The treatment of cancer has been a mainstay in the ranks of high cost care for decades.  While the treatments available for various cancers have expanded we still have not reach the elusive moonshot goal of ‘curing’ cancer.  Genomics, and more specifically the study of proteomics, has opened up a new mindset for oncology.  Chemotherapy decisions historically were based on organ-based treatment regimens.  Proteomics bases decisions on what proteins are expressed by the cancer.  In doing such, an oncologist is able to precisely tailor a chemotherapy regimen to an individual—basing treatment on their DNA rather than outcomes from a study of other individuals.  This precision medicine is groundbreaking in the potential of treating an individual’s cancer with the right treatment, at the right time, the first time rather than through traditional trial and error.

Precision medicine approaches to cancer treatment have the potential to offset significant healthcare costs associated with hospitalization, emergency room visits, adverse effects and complications from failed therapies.  Thus a genomic test performed at the initial diagnosis of a cancer could potential offset hundreds of thousands of dollars in future costs for less precise treatment regimens.  Take for consideration that 1% of your plan members, who happen to have been diagnosed with cancer, may be driving over 30% of your total healthcare spend—there is an opportunity to not only shift your costs substantially, but also provide a better quality of life to an employee or plan member.


Although at home tests have become more affordable, the precision testing associated with high cost conditions remain costly.  Academic medical centers and some insurance carriers are developing exclusive agreements with genomics vendors, bringing this access to this technology.  However most insurance carriers continue to list genomic testing as experimental or investigational and thus do not cover the costs.  This can leave an individual with an out-of-pocket expense ranging from $10K-$50K.  A few innovative employers have decided to pay for such testing upfront, at the time of diagnosis of a cancer, rather than waiting for the insurance carrier to cover.

The good news is that the Centers for Medicare and Medicaid Services (CMS) announced in March of 2018 that it will reimburse for genetic testing of Medicare patients with advanced cancers.  Where CMS goes, the insurance carriers often follow—so this is being seen as a positive first step in making this precision medicine solution more readily available and affordable.


Genomic testing offers precision treatment of rare, high cost conditions (such as cancer or inherited disorders) as well as a preventive approach by enabling early risk assessment and detection—truly a disruptor in how healthcare has been provided.  More than just potential cost savings or value in high priced care, innovative employers are leveraging this biotechnology as a way to differentiate their benefits from competitors.

Take a look at the medical and pharmacy claims for your plan—is cancer treatment a common item on your high cost claims list? A consultant can help you review claims and demographics data for opportunities to leverage this leading edge technology. Contact an HCW consultant today to get started.

Coming soon:

PART TWO (September 2018):  Preventive Precision Medicine—how a population-level approach to genomics could change the future burden of chronic disease.

PART THREE (December 2018):  Pharmacogenetics—an opportunity to leverage genomics in an era of escalating pharmacy costs.


Jenny Love, MD, MPH, FAAFP, CPE

Jenny Love, MD, MPH, FAAFP, CPE

Health Management Director - Jenny leads the HCW health management platform and team to provide health management consultation and innovative solutions to help clients control healthcare costs. Her clinical knowledge and experience in physician leadership, population health, and healthcare systems contribute to her ability to champion and collaborate with physicians, insurers, third party service providers, and clients in developing health management initiatives for employers.
Jenny Love, MD, MPH, FAAFP, CPE