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Employers and plan sponsors that want to offer genomic testing access and education to employees and their dependents have options to do so through workplace benefits. What kinds of tests are available, and what are the pros and cons?

Imagine a world where your doctor can develop preventive and treatment plans with precision based on your genetics that are bespoke to you. A world where you and your doctors know—based on your genetic makeup—which diseases you are predisposed to develop and what actions you can take to mitigate those risks.

Due to advances in genomic testing <1> and dramatic reductions in their costs, this world of precision preventive medicine is starting to become a reality. The landscape for precision medicine is also changing rapidly with the advent of innovative new technologies like generative artificial intelligence (AI). The traditional symptom-based model of diagnosis and treatment is evolving to one that increasingly tracks patterns of disease aided by AI and computer algorithms.

Precision medicine tests and therapies are being adopted into clinical practice as evidence of their effectiveness grows. However, most private health insurers do not offer coverage for genetic or genomic services unless certain clinical criteria and evidentiary standards are met. Furthermore, health insurance offers no genomic testing coverage for use in personalized preventive care.

However, employers and plan sponsors that want to offer genomic testing access and education to employees and their dependents have options to do so through workplace benefits. This article will explore the types of clinical genomic tests available today, their potential benefits, key challenges to adoption, compliance considerations, and pros and cons for employers and plan sponsors.

Genomic Tests, Benefits and Costs

Predictive Screenings

A clinical predictive screening is used to determine whether someone is susceptible to a particular condition before they display any symptoms. This test is typically performed in the following two scenarios.

  1. Screening for a gene that is associated with a condition that is actionable—meaning that it can be treated or the risk can be reduced with lifestyle modifications and/or regular screening. This test is focused on detecting actionable inherited conditions arising from mutations on a single gene, predominantly heart cardiovascular (heart disease and stroke), which is the third-highest cost condition in the U.S. at $216 billion, and cancer, which is fourth-highest at $200 billion according to the Centers for Disease Control and Prevention (CDC). Two of the better-known examples are hereditary breast and ovarian cancer syndromes, but those are just two of 167 actionable genes that can be screened. In one of the first real-world examples of specialists and primary care providers using this screening, nearly one in six individuals screened in a study had clinically significant results.<2> The cost of this test, direct from the lab, is approximately $300 (excluding genetic counseling, which can run an additional $150-$250).
  2. Screening for a condition that is not actionable but is sufficiently severe that people may want to know about it before making major life decisions, such as starting a family.

Pharmacogenomics Screening

Pharmacogenomics, sometimes referred to as PGx, is the science of examining variations in genes that determine a patient’s response to a drug. Pharmacogenomic tests provide high evidence drug-gene interaction information outlining risk/impact warnings for specific drugs. Providers have known for years that two patients on the same drug regimen may respond very differently. Genetic factors are estimated to contribute 20-40% of the differences in drug metabolism, safety and effectiveness between patients.<3> Studies have shown 90% or more of people in the U.S. carry at least one of the high-risk genomic variants.<4>

Drug categories for pharmacogenomic tests include antidepressants, cardiology, gastroenterology, endocrinology, oncology, infectious disease and more. By reviewing these test results, doctors can proactively reduce the likelihood of prescribing medications that are ineffective or cause adverse reactions.

It is estimated that prescription drugs in the U.S. cause an estimated 2.74 million adverse drug reactions and 128,000 deaths annually.<5> Prescription drug-related morbidity and mortality resulting from non-optimized drug therapy costs an estimated $528.4 billion annually in the U.S.<6> This data suggests that prescribing certain medications without pharmacogenomic test data is inherently risky. The cost of the pharmacogenomic test direct from the lab is approximately $300 (excludes genetic counseling which can run $150-$250).

Cancer Diagnosis and Treatment

Genomic testing can also be valuable after a diagnosis of cancer. Sequencing the DNA of a cancerous tumor (called germline testing) can identify gene mutations present in the tumor cells that are either actionable for targeted treatment or warrant further study. The cost of a germline testing cancer panel accompanied with genetic counselor involvement is approximately $300-$500. Expert pathology review to confirm grade, stage, diagnosis and tissue review is approximately $1,000.

Compelling real-world evidence demonstrates improved survival in cancer patients who received comprehensive genomic profiling (CGP) testing and targeted therapy compared with standard chemotherapy. <8> While CGP is increasingly included in health plan care guidelines, the inconsistent application of CGP creates a gap in the standard-of-care practice for advanced cancer. Less than 40% of cancer patients meet the guidelines for genetic testing as outlined by National Comprehensive Cancer Network (NCCN).<9> According to new research by Stanford Medicine scientists and collaborators, less than 7% of cancer patients were screened for inherited genes. This study did not ask why the patients were not screened, but prior studies suggest they do not receive information about genetic testing from their physicians. CGP costs approximately $3,500.

Key Challenges to Adoption for Plan Sponsors and Workers

Awareness and Fear

Faced with genomic testing, individuals may be hesitant because of fear of what they may find out. A positive result for cancer, for example, doesn’t necessarily mean that a person will develop cancer, but it can weigh heavily on their mind or the minds of their loved ones. Education on what information the genetic testing results provide and how the results can support health and wellness management may help overcome plan participants’ fear.

Privacy and Discrimination Concerns

While genetic testing can provide valuable insights into a patient’s health, it also raises concerns about genetic discrimination. Patients may fear that their genetic information could be used against them by insurance companies, employers or other entities.

The Genetic Information Nondiscrimination Act (GINA) is the most significant law prohibiting health insurers from setting eligibility, premium or contribution amounts for health insurance based on genetic information. It also prohibits employers from using genetic information in making decisions about employment. It is against the law for an employer to request, require or purchase the genetic information of a potential or current employee or their family members. GINA also prohibits employers from accessing individual-level genetic data in wellness programs; they can only access aggregate data.

Under the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule, genetic information is considered Protected Health Information (PHI), and HIPAA-covered entities may not use or disclose PHI that is genetic information for underwriting purposes.

Consumer privacy advocates argue that more protections to limit the use of genetic information by insurance companies are needed. It is important to note that GINA does not currently offer protection in the context of disability, long-term care or life insurance. Legislation has been proposed in several states, but Florida is the only state that has enacted a genetic privacy law that prohibits life insurance companies from rating, canceling, limiting or denying coverage based on genetic information.

What is clear is that issues such as privacy, informed consent and intellectual property all come into play and create concerns as genomic research and technology moves forward.

Lack of ROI Data for Widespread Testing

When considering the return of investment (ROI) of genomic testing, it is important to distinguish diagnostic testing from screening. Diagnostic testing is performed for an individual who either has or is suspected of having a particular disorder because of clinical symptoms. In this situation, the probability that the individual has the condition is relatively high and can guide treatment. With predictive screening, testing is more widespread and focused on identifying individuals with a condition or predisposition to a condition when the prior probability of having that condition is low.

As discussed earlier, predictive screenings have become more focused on a panel of genomes that are actionable for prevention and early detection, primarily focused on cancer and cardiovascular conditions. At this stage, there are many hypotheses about whether widespread genomic screening will offer a high return on investment, but there is not currently enough data to know one way or the other.

Considerations for Offering Genetic Testing as an Employee Benefit

Increase Knowledge, Support Wellness

Genomic testing may be positioned by an employer as an enhancement to a wellness program by providing factual genetic information on personal health risks. This knowledge may motivate individuals to become more engaged in employer wellness programs and take a more active role in their health care decisions. Individuals who engage in preventive health measures are less likely to develop chronic conditions, and those who already have a chronic condition can reduce their risks by managing them more effectively.

Employers do not need a complicated or costly wellness program to benefit from genomic testing either. One of simplest and most effective wellness programs is simply to promote the annual preventive exam with a primary care doctor (which is covered by health plans with no cost share). By offering genomic testing through the workplace, an individual may benefit from a more personalized wellness visit by sharing the genomic testing results with their primary care doctor.

This pharmacogenomics and preventive screening data can enhance drug treatment and chronic care management regimens, help guide preventive screening recommendations, and prevent dangerous and sometimes fatal drug side effects. Ultimately, by providing employees with their genomic data,  preventive and treatment plans aim to be tailored to the individual to reduce health care costs and waste, encourage healthy behavior, increase productivity and enhance quality of life.


A few commercial vendors are marketing genomic testing to employers as an employee benefit and/or wellness program, but it is far from mainstream in the workplace. More than one-half (56%) of Americans are interested in genetic testing that assesses the risk of developing a disease, so employers can help fill the access and knowledge gap.<9> Offering genomic testing or education for employees could be an innovative differentiator in the war for talent.

Concerns About Privacy, Cost and Utilization

When offered as an employee benefit, the No. 1 employee concern is the security and privacy of their genomic data. To be successful with employee adoption, an employer must ease concerns about privacy of genetic information and use best-practice communication to promote utilization and engagement.

Like any new benefit, the implementation of genetic testing will require significant education for the workforce and a willingness to make a long-term investment to measure outcomes. HR departments should become well-versed in the science to give their employees the confidence of how this benefit can help them and their families and how they can take a more proactive approach with health care providers.

Offered as an employee benefit, genomic testing can be implemented as an employee-pay-all voluntary benefit or as an employer-paid benefit. There are also creative ways to offer it, such as an incentive under a wellness program.

If offered as a voluntary benefit, the biggest investment for employers or plans will be educating the workforce on the benefits that this type of testing can provide, including the potential barriers to adopting this as a tool for managing health.

If offered as an employer-paid benefit, the cost of the benefit is added to communications and education efforts. Utilization is not assured even when an employee elects to pay for the coverage. Action must be taken by participants to order their kits, and then once received provide their saliva samples and mail them to the lab. Therefore, it is important to remind enrollees periodically of the benefit and to follow through with the testing. They will also need follow up education on how to effectively use their genomic information to mitigate their risks.

By bundling the genomic tests with counseling, employers can offer voluntary or employee-paid benefits that are significantly lower than the direct cost for tests outlined earlier. Moreover, supporting services like patient navigation, peer-to-peer doctor support and genetic counseling, a bundled genomic testing employee benefit program can help ensure that there is holistic support for an individual and the treating oncologist when there is a cancer diagnosis. As individuals have factual knowledge of their genetic predispositions, they may choose to pursue more proactive/preventive medical treatments, which may change some of the landscape of what is considered preventive services.


Today’s genomic testing offers the potential to increase patient empowerment gained by offering greater understanding of their health risks and potential genetic predispositions. This knowledge can motivate employees and their families to take a more active role in their health care decisions and engage in more informed discussions with their doctors. It can also improve drug treatment decisions and prevent costly adverse drug reactions.

Employers and plan sponsors will need to address employee concerns about privacy, so HR will need to understand the tests, provide education and assurance about privacy of genomic data.


<1>A gene is a specific segment of DNA that tells cells how to function. A genome is the entirety of the genetic material inside an organism.

<2>Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.” August 18, 2021.




<6> Ibid.


<8> or


Tom Troike is a senior benefits consultant at OneDigital specializing in mergers and acquisitions and high-growth companies with 500-plus employees. He holds a B.S. degree in finance and management information systems from the University at Albany, SUNY, and a master’s degree in management from San Francisco State University.

Silvia Van Dusen is the executive vice president and chief human resources officer at LinQuest Corporation. She holds a B.S. degree in business administration from the University of La Verne and a master’s degree in psychology from Walden University.

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