Rising demand for genetic testing: What employers need to know 

Discoveries in genetics have revolutionized medical science. With each new advance, the excitement around genetics and genomics testing continues to build. Direct-to-consumer marketing of test kits has increased public awareness; employers are inquiring about what this capability really means and if and how to position it within a health benefit. The growing popularity of these genetic tests is driven by the assumption that if we can uncover genetic risk factors or detect diseases earlier, better outcomes will follow. However, for various reasons, these assumptions are not always true. That’s why it’s important to health plan sponsors to stay up to date on this evolving field to make informed decisions about how best to incorporate coverage in their programs, if at all. To make it still more challenging, genetics are used in many different areas of medicine. Here are the major categories that employer health plan sponsors need to be familiar with:

Predictive medicine to determine the risk of disease. There are three situations in health care when genetic testing can be valuable: prenatal testing, determining the reason for a particular condition and determining the risk of getting a disease (family testing). With the proliferation of direct-to-consumer test kits, individuals are receiving results that can be interesting, or even good to know, but they aren’t getting clear answers on whether or not they have a risk of disease. That’s because these direct-to-consumer kits test for specific genetic biomarkers while tapping into consumer data to look for correlations between the test results and an increased risk of disease. More often, the result of the test is to be given a probability of risk. It’s difficult for a person to decide on a course of action based on that type of information without the assistance of a clinician, and it can cause unnecessary worry, testing and even treatment. While these test kits are popular, employers are not rushing to cover them as a benefit. In our most recent National Survey of Employer-Sponsored Health Plans, only 2% of employers with 500 or more employees currently cover optional genetic testing or screening.

Precision medicine to determine the best treatment option. New understanding of how a person’s genes determine whether they are susceptible to certain diseases and how they process certain medications has translated to treatment strategies tailored to individual patients. Cancer research has identified the genetic biomarkers associated with certain tumor cells. By identifying an individual’s unique pattern of biomarkers, clinicians, leveraging the latest advancements in immunotherapy, can prescribe very precise cancer treatments. Research has shown that certain genes affect how a body processes a medication, impacting the effectiveness and even the side effects of the medication. Genetic testing results help the prescribing clinician select the most effective medication and dose, or to avoid a medication altogether, ultimately leading to better outcomes and perhaps a quicker remission.

Screening detection for the unknown presence of cancer. Advances in genetic testing allows for the screening and identification of cancer much earlier. This is a relatively new area and more research is needed before we can determine the best treatments for cancer in those early stages. Is it better to live with cancer at a harmless stage and monitor for progression – or move forward with treatment that may cause harm to the body when monitoring may be sufficient? Although the field is progressing rapidly, refinement is still needed. Here, direct-to-consumer testing is of uncertain benefit. When a physician orders screening, it is based on the unique risk profile of a patient. Using direct-to-consumer testing capabilities for mass screening, meaning that it is not guided by individual risk profile or appropriate parameters for testing, may result in unnecessary testing and cost and perhaps unintended consequences.

Again, it’s important for employers to keep up to date on this evolving and promising area. Today, these tests are typically ordered in the context of the assessment and treatment of a specific patient. Providing the same technology based on consumer-driven demand, or sponsored broadly as a health benefit, warrants a thorough consideration of the objectives for doing so – and even a discussion of your organization’s philosophy regarding the employee health benefit.