Unraveling Genomics

The use of genomics in medicine brings earlier detection of disease, more precise treatment and better outcomes.

All of those advancements, of course, come at a cost.

Spurred on by state and federal regulation, increasing numbers of health insurers are covering testing that detects genetic mutations that forecast the likelihood of medical diseases and conditions and indicates how well patients would respond to treatment. This testing is providing the promise of more prompt and comprehensive care, but for employers thinking of offering this coverage as part of a group health plan, there are relative benefits and costs to consider.

Some patient advocates and healthcare providers contend health plan coverage for genetic testing and related screenings and services is inadequate. The situation is driving insurance companies to introduce new products that seek to offer wraparound coverage supplementing basic genetic testing and health insurance.

Brokers and agents may need to be prepared to negotiate genetic testing issues both in shopping health insurance policies and in explaining the benefits of selected policies to employees and beneficiaries.

Nearly everyone interviewed for this story said, for most parties involved, even for many physicians, the understanding of genomics testing and its economics and health implications is insufficient. Their assessment suggests there is much to consider when delving into the changing world of advanced medicine.

Genetic Testing Types

There are several basic types of genetic testing. The first tests whether individuals carry gene mutations that make them susceptible to certain cancers and other medical conditions. These tests can be done for one gene or a panel of 100 or more genes to try to detect problematic markers.

A second category involves testing of the genetic content of cancerous tumors to determine optimal treatments. Such molecular diagnostic tumor genetics testing can tell whether a targeted immunotherapy treatment will be most beneficial for certain cancers with identified biomarkers. This testing is done on either the tumor or on the tumor DNA in the patient’s blood.

A third type of genetic testing, pharmacogenomics, also called PGx, tests how well a person will react to different medications.

There’s also the additional cost of the non-genetic, follow-up screening that is recommended based on certain genetic test results. One such screening is the magnetic resonance imaging (MRI) that often follows a diagnosis of the BRCA1/BRCA2 mutation, which suggests a high probability of developing breast cancer, ovarian and other cancers and can cost thousands of dollars. Procedures done to reduce risk or remove cancerous tissues or organs, such as mastectomies and prostatectomies, carry an even bigger financial impact. A mastectomy can cost a plan more than $10,000 and far more if breast reconstructive surgery is added.

A relatively small percentage of the U.S. population, about 5% to 10%, carries genes that create a very high risk of certain cancers and other conditions. The average woman, for example, has about a 13% risk of breast cancer. For women with a BRCA mutation, however, it’s about 65%, says Lisa Schlager, vice president for public policy at Facing Our Risk of Cancer Empowered (Force), a nonprofit advocacy group for people with genetic predisposition to cancer. Likewise, the average woman has a 1.5% risk of ovarian cancer, whereas women with the BRCA mutations have up to a 60% risk.

What is important to understand about individuals with such extreme genetic vulnerabilities is that they are likely to become cancer screening power users, Schlager says, starting expensive mammogram and MRI screening much earlier and then screening with more frequency than the population at large. Someone who tests positive for Lynch syndrome, for example, may start colonoscopies by age 25 and repeat every one to two years if they follow National Comprehensive Cancer Network guidelines, making screening expensive for those patients and for the health plans they belong to, Schlager says.

Just how much genetic screening should be done for populations without high-risk genetic markers or family histories suggesting heightened risks is a controversial and hotly debated topic for a variety of reasons. Inconclusive or false positive results can unnecessarily worry individuals who are at low risk and lead to more expensive testing, like mammograms or MRIs, to prove that they don’t have an actual medical condition. As discussed below, a minority of more progressive medical authorities strongly support genetic testing for the general population and assert that properly administered testing can lead to less costs and better health outcomes down the road.

For many tests, statistical relevance is an issue. A genetic test might indicate you have a 30% higher-than-average chance of developing a certain condition. But how significant is that diagnosis if only 1% of the general population develops the condition and your rate is 1.3%, ponders Dr. Mark Cunningham-Hill, medical director of the Northeast Business Group on Health, an organization of 80 large employers. The group is mostly self-insured for health insurance and has examined genomics testing issues for its members.

Genetic testing resulting in positive findings for genetic susceptibilities can also lead to reduced availability and higher pricing for certain types of insurance products, such as life insurance, disability insurance, and long-term care insurance.

Government Sets Coverage Standards

Health insurance coverage varies for different types of genetic tests and risk populations. The difference reflects variations in federal and state mandates.

Under the Affordable Care Act (ACA), for example, genetic counseling and BRCA testing for women with specific personal or family cancer history should be covered with no co-payment. Under the ACA, coverage at 100% applies to in-network healthcare providers only, and services provided by out-of-network providers could result in out-of-pocket costs. Self-insured plans are not required to adhere to the ACA testing coverage requirements.

BRCA genetic testing for men—and for women who are being treated for cancer—is not covered under the ACA preventive services. But most private health insurers will cover testing for those who meet specific personal and/or family cancer history criteria, Force notes.

However, deductibles, co-insurance and co-pays usually apply to all genetic-related healthcare, which makes it likely that most individuals diagnosed with a BRCA1 or BRCA2 mutation, for example, will never have a low-cost healthcare year after their diagnosis, Schlager says.

Many states have statutes related to genetic information or genetic-related health conditions, according to a 2020 database of the federal National Human Genome Research Institute, which tracked nearly 1,200 genetic information statutes and bills that were either introduced or enacted. The types of statutes vary considerably, and some states enforce multiple statutes. Among such statutes are those that require health insurers to provide coverage for genetic testing or for a medical procedure based on the results of genetic testing and/or prohibit discrimination in health insurance availability or employment based upon genetic information or a diagnosis of diseases that are correlated with genetic conditions. States with enacted statutes related to genetic information or genetic-related conditions and health insurance coverage include Arkansas, California, Colorado, Connecticut, Florida, Georgia, Illinois, Kentucky, Louisiana, Massachusetts, Nevada, Oregon, Pennsylvania and Utah, according to the database.

Interestingly, some plans in Louisiana appear to be arguably more extensive. Humana, which operates in Louisiana, provides for “genetic counseling and genetic testing where medically necessary,” in its Louisiana Federal Employee Health Benefits (FEHB) plans, which appears to suggest that such testing is not limited to cancer, says Kevin Moss, editor at Consumers’ Checkbook, a nonprofit that produces detailed analyses of FEHB plan offerings.

But healthcare advocates say enormous gaps remain in coverage for genetic testing and genetic-related services. According to Schlager, carriers’ reliance on U.S. medical regulatory bodies to establish the baseline of care that drives what genetic testing and care will and will not be covered is part of the problem. The United States Preventive Services Task Force is an independent panel of experts in primary care and prevention who systematically review the evidence of effectiveness and develop recommendations for clinical preventive services, Schlager says. Given the complexity and controversy of some genetic testing, she says, it’s not surprising many carriers rely on it.

The problem, Schlager says, is that the task force considers the care needed by the population at large, not those with heightened susceptibilities, such as genetic mutations that cause increased risk of disease, resulting in insufficient coverage. Better, she says, are some institutional bodies more involved in tracking research on the prevention and treatment for these conditions, such as the National Comprehensive Cancer Network, which tends to recommend more generous coverage.

Even when such cancer screening is covered by a plan, the cumulative effect of co-pays and deductibles can have an enormous financial impact on low- and middle-income policyholders. As a result, Schlager says, some shy away from genetic testing and cancer screening that could save their lives.

Medicare covers genetic testing only after individuals develop cancer. In March 2022, Force supported a bill introduced in Congress called the Reducing Hereditary Cancer Act (HR 1526/S 765). The bill, which was reintroduced in both houses of Congress in March, aims to modify the Medicare statutes to enable coverage of genetic counseling, testing, screening and risk-reducing interventions for people without cancer but who meet genetic testing criteria based on their family history.

Employers Struggle to Make Sense of It All

As the cost of genetic testing comes down and the usefulness of test results improves, health insurance plans and self-insured employers are struggling with how much coverage to provide beyond what is legally required.

A February 2020 Quick Survey on Genetic Testing Benefit Offerings by the Business Group on Health (a national large-employer health research and policy organization that is different from Cunningham-Hill’s Northeast Business Group on Health) found that, of 53 larger employers surveyed, 55% offer coverage for medically actionable genetic testing based on individual family histories, while only 9% offer coverage for all employees and dependents on a voluntary basis.

Of 27 companies asked whether they were considering adding coverage for medically actionable genetic testing for those in the general employee population, 74% said they were considering doing so.

For cancer-related genetic testing, a game changer would be a clinical study demonstrating that the cost of testing to detect genetic markers and downstream medical care is offset by the reduced costs provided by shorter hospital stays, averting more serious cancers, and greater productivity by employees who return to work sooner. To date, many noted, there is a lack of such data.

But even statistically valid evidence supporting genetic testing might not overcome structural disincentives for many employers and health insurers to provide some genetic testing and genetic-related medical care. The hope to show that testing will result in benefits to employer plans and employee performance down the road must overcome statistics showing that employees on average are staying a shorter duration at a given employer, meaning the employer whose plan pays for all of those expensive screenings and interventions might not be the employer whose plan is rewarded by less costly downstream genetics-related medical care.

The ROI on Pharmacogenomic Testing

Some health systems are aggressively increasing genetic testing of their patients.

Ochsner Health System, in the southeastern United States, is going much farther than most healthcare providers. Ochsner is making pharmacogenetic testing standard and using the results to deliver better healthcare, notes Dr. Marc Matrana, a ninth-generation New Orleans native and Ochsner’s system director for precision medicine.

“Passing legislation mandating insurance coverage for this testing really knocked down that last barrier that we had to getting more patients screened for certain variants that impact the way they metabolize medications,” Matrana says. “One of those key medications is a chemotherapy medication that is used in a lot of gastrointestinal tract cancers, called 5-fluorouracil. It’s a medication that, in addition to treating cancer, unfortunately has a lot of toxicities. Particularly if you can’t metabolize this drug normally due to a mutation in a gene called DPYD, these toxicities can be profound and even fatal. Patients who have this mutation and who are not tested up front end up with lots of complications in the hospital. … We have found that if we have a [pharmacogenetic] test available ahead of time, we could either select a different medication or dose-adjust it to avoid serious toxicity, while still responding to the chemotherapy. We implemented a pharmacogenomic testing program for our patients with cancer who are anticipated to take 5-fluorouracil as part of their treatment.”

Matrana says, in his clinical experience, early knowledge of patient genetics allows treatments that forestall more expensive treatments and hospital stays later and that outweigh the costs of the additional testing.

The value of such testing could be increased by eventually expanding its scope to more patients and more genes and then making the results more accessible, Matrana says. “Let’s say you have this test run today in our system, maybe your insurance doesn’t cover it and you have to pay $90 out of pocket,” he says. “Maybe next week or maybe in 10 years or maybe 30 years, who knows, you walk into any of our hospitals or any of our urgent care centers with crushing chest pain. We diagnose that you’re having an acute heart attack, and the doctor goes to type in Plavix, the drug that’s supposed to stop your heart attack. We know that, for some members of the population, that drug doesn’t work because of a genetic mutation. Before the doctor is able to order Plavix in the electronic medical record, the system is automatically going to do a drug/gene interaction check. It’s going to say, ‘Stop! You cannot order this drug for this patient because it is not going to work due to their gene mutation.’ And it’s going to give alternative suggestions.”

That optional testing is part of the pharmacogenomics program Ochsner launched in March 2022 and is available to all the health system’s patients.

Ochsner, which treats more than one million patients per year, is also making available genetic testing for depression medications to its 36,000 employees as an employer-paid employee benefit through a partnership with genomics testing provider OneOme, notes Kevan Simms, Ochsner’s assistant vice president of precision medicine. “There is a significant amount of evidence that supports PGx testing for depression and can help to avoid the odyssey of finding the precise medication to help. Without this testing, there is often a trial-and-error approach to antidepressant prescribing, which can take up to a year (or more) before the right medication is identified,” Simms notes. “We analyzed the cost/benefit of PGx testing as well and feel confident that the increased cost of testing to the system will be covered through reduced costs to both the plan and the affected team member.”

There are plans to further expand the program to test for multiple conditions, not just cancer or depression, and, eventually, to all patients, Simms says.

Elsewhere in the country, some insurers are exploring further pharmacogenomics testing. This year, Blue Cross Blue Shield of Michigan launched a Blue Cross Personalized Medicine program under which eligible Blue Care Network members with pharmacy benefits have access to an end-to-end pharmacogenomics precision medicine program—Blue Cross Personalized Medicine, under partnership also with genetic testing provider OneOme. Under the program, providers are able to use a patient’s genetic test results to help find the right medication for them and to assist in various diagnoses, including behavioral health, cardiology, cardiovascular and oncology, notes a spokesperson for Blue Cross Blue Shield of Michigan.

New Approaches To Insurance Coverage

Some see a vacuum for additional coverage through new insurance products, given the structural disincentives, cost concerns and general inertia holding back employers and health insurance carriers from implementing genomics more aggressively. In February, insurer Chubb, through its subsidiary Chubb Workplace Benefits, began offering a new genomics-based product, Cancer Advocate Plus, a cancer-specific, genetics-based supplemental insurance program, through an exclusive agreement with a genomics-based, health navigation company, healthŌme.

The program offers policyholders tools and support across the cancer continuum, including:

Screening: Genetic testing helps identify inherited mutations that increase cancer risk. In case of elevated risk, healthŌme genetic counselors can develop a personalized action plan for reducing risk. Policyholders also have access to pharmacogenomic testing

Cancer management: In case of cancer diagnosis, policyholders are provided access to personalized support, tools and resources for complex illness navigation.

Molecular diagnostic tumor testing: Genetic evaluation of an individual’s specific cancer helps guide and optimize treatment.

Medical review: Molecular pathologists and an oncology nurse provide the individual’s physician with a precision treatment report and, if applicable, assistance with clinical trial enrollment.

Cancer recovery: Continued support during remission includes access to advanced blood-based cancer recurrence monitoring and enables earlier detection than traditional medical testing.

Insurance protection: A guaranteed issue insurance benefit of $15,000 complements employees’ existing medical coverage by paying benefits directly to the insured in three lump-sum payments during the first year of a covered cancer diagnosis. Janet Buzil, senior vice president of product innovation at Chubb, says the payments could help defray the co-pay and deductible costs of those with the BRCA1 gene.

Ongoing education and empowerment: Covered individuals can learn about genetics and its relationship to cancer and receive and store genetic test results in a secure, HIPAA-compliant online interactive user portal.

The product supplements existing health insurance coverage, which Chubb does not provide as a product line; it does not replace it.

Given the current lack of genetic testing for the general population, there is a need for a service that provides proactive care around cancer, Buzil says.

“If you think about the different types of genetic tests that one can deploy in any sort of cancer setting, you could categorize them across the population,” says Darren Rowe, chief executive officer of healthŌme. “So you have a portion of the population who are looking to manage their risk of cancer or detect cancer early. You’ve got the group that has cancer, and you’re looking to deploy tests to help guide treatment. Then you’ve got the group of people that have finished their treatment and now are looking into technology to help them understand if their cancer’s recurring. Cancer Advocate Plus has tests across this whole cancer continuum.”

Buzil sees the product as one that could be offered by employers with full payment, with a premium split with payees, or as an employee-funded option for those who are interested.

Chubb could soon have a sense of relative employee interest. The company will offer the program to its 15,000 U.S. employees as an optional benefit starting in mid-2023.

That product may have to compete with existing services provided by some healthcare providers, says Dr. Monte Masten, chief medical officer at Marsh McLennan Agency. “If you looked at cancer and oncology practices in this country, they’re very large practices now that typically have those types of services already embedded in the practice, whether it’s a nutritionist, social worker, genetic counselor.”

Schlager says she generally likes the idea of a supplemental insurance offering for people who are deemed to be at increased risk of cancer to help offset those costs, such as more frequent MRIs and colonoscopies. “I think a lot of people would do that because they’re facing a heavy financial burden for cancer screenings and risk-reducing interventions.”

The current Chubb policy does not cover additional testing and preventive services that those with genetic mutations need, Rowe says. After discussing this issue with Schlager, he says, healthŌme is exploring the possibility of adding this feature to future versions of the product.

There is definitely a gap and room for new products like Cancer Advocate Plus, but the economics are challenging and it remains to be seen if such products can successfully negotiate them, says Neal Masia, CEO of EntityRisk, which provides health product statistical and economic modeling. “In terms of any kind of preventive care, even if it’s not that expensive, it’s challenging because you invest today and suddenly you’re paying a lot more for resulting treatments and the payoff might not come for five or 10 years on some of these things because you might not have the risk for the patient in five or 10 years because they have moved on to another employer or onto Medicare,” Masia says. “But there are a lot of available tests and treatments and others that are coming down the pike that present that issue. We’re going to need to think about how the whole payment system is structured. For example, if we wait to treat these conditions until individuals arrive at Medicare, many conditions will be much more expensive, yet Medicare has no way to pay for those preventive services before they arrive.”

A genomics product that bridges the gap between life and health insurance might also find uptake, Masia says. “I’ve always thought it’s in the interests of life insurers to get in there and try to supplement early diagnosis of conditions because it can really extend people’s lives and it’s clearly good for life insurance companies to do that,” Masia says. “I do think there’s a lot of opportunity there.”

Rowe agrees. He says healthŌme has partnered with Hannover Re to launch a life insurance version of the cancer product it provides through Chubb.

Genetic Discrimination In Insurance

One challenge to further utilization of genomics is many employees’ fear that testing positive for disease-associated genes will eliminate insurance coverage for them or greatly increase their rates.

The Genetic Information Nondiscrimination Act (GINA) prohibits health insurers from discrimination based on the genetic information of enrollees. Specifically, health insurers may not use genetic information to determine if someone is eligible for insurance or to make coverage, underwriting or premium-setting decisions. Furthermore, health insurers may not request or require individuals or their family members to undergo genetic testing or to provide genetic information. The health insurance protections of GINA extend to private health insurers, Medicare, Medicaid, Federal Employees Health Benefits, the Veterans Health Administration and, to a lesser extent, the U.S. military’s Tricare insurance program.

However, GINA’s health insurance protections do not cover long-term care insurance, life insurance, or disability insurance. Some states have laws that offer additional protections against consideration of genetic data in availability or pricing for these lines of insurance.

The high-water mark for state coverage is Florida, which in 2020 became the first state to enact a law that protects genetic information affecting rates or availability of life, long-term care and disability insurance.

For residents of states offering less protection for consumers, the failure to prevent discrimination with respect to those products can be a decisive factor leading individuals who have family histories of cancers not to get genetic testing, Schlager says.

“That is why we, and most genetic counselors, recommend to our constituents with family histories that suggest that they are at risk for BRCA or other mutations to get life insurance before they have genetic testing,” Schlager says.

Where Does This Leave Brokers?

Marsh McLennan Agency’s Masten notes that genetic testing generally is such a small part of a given health plan that it is not likely to drive plan selection choices. As noted, some health insurance coverage of genetic testing is required by federal and state law, and brokers may wish to educate themselves on such coverage under health insurance plans.

When advising policyholders, brokers and agents may wish to point out that plans with limited coverage and higher deductibles and co-pays are not a good fit for employees with hereditary cancer susceptibilities, who are more likely to need genetics-related medical care early in their lives, Schlager says.

In addition, some health-forward clients may wish to offer more than the prevailing clinical recommendations for the general population with respect to genetic testing, Masten says, adding that company benefits and wellness philosophy rather than merely company size can be a key factor in driving employer interest in providing such services for all employees rather than just for high-risk ones.

Employers who wish to provide additional coverage could pick up the cost of genetic testing themselves or note that employees are free to do so. They can note the cost of such testing is relatively inexpensive and that panel testing may allow for detection of a wider range of genetic susceptibilities at a price that is not much greater than testing for a single gene marker. Employers should be counseled, however, that this could increase genetics-related medical care costs. As Schlager notes, picking up the deductibles and co-pays not covered under insurance for the high-risk population would be a valuable benefit.

If such benefits are provided, given the complexity of this area, it is important to ensure that those undergoing genetic testing receive robust genetic counseling to help them make sense of what the results do and do not mean and considerations for further responsive actions, Masten and Schlager note.

Masten says Marsh McLennan Agency counsels its brokers and clients on genetics-related issues, including whether to recommend that employer clients consider one or more of the increasing number of genomics-based services that are often pitched to brokers as well as employers.

“I think, in a lot of situations, we typically recommend that they follow their insurer’s medical policies around genetic testing,” Masten says.