From the first custom treatment for a genetic disease to research that could spur new treatment options for some forms of Alzheimer’s, genetic innovations this year are expanding the boundaries of precision medicine. But the speed of new discovery is also creating unique challenges for providers, payers, and patients.

Even as the healthcare industry sees increased use of artificial intelligence to identify rare disease and an explosion of new gene therapies entering the market, there are limits to what we know and what can be applied today. The pace of genetic innovation, including an estimated 10 new genetic tests introduced each day, outmatches health plans’ ability to manage utilization to ensure the right test is provided for the right member at the right time. Meanwhile, providers struggle to understand the benefits and constraints of genetic tests.

The impact on patients runs deep, especially when it comes to accessibility and affordability:

  • Some genetic treatments cost hundreds of thousands or even millions of dollars.
  • Even when patients do meet clinical qualifications for genetic testing or treatment, only a fraction of patients receive it, often due to policies, cost, or lack of understanding by key stakeholders.

As we enter a new year and new decade, what trends will shape the genetics industry—and how will they impact clinical application, access, and affordability? Four stand out.

Trend No. 1: There’s a huge proliferation of genetic data coming—but a limited understanding about what to do with it.

In 2020, we’ll see a crush of data from gene therapy clinical trials, especially in the area of oncology, which represents 25 percent of Phase I and Phase II trials. Patients also are pushing for genetic testing and research that goes beyond rare diseases to more common conditions, such as Parkinson’s disease. Though these tests may not be covered by insurance, speaking to a provider and genetics expert could open the door for enrollment in clinical trials. And, when more advanced testing is not accessible or affordable, some patients turn to at-home genetic tests.

The risk: The data from these trials, tests, and therapies will produce not only new answers, but new questions. Such is the nature of research, but sometimes the hype gets ahead of the science.

Consider that 90 percent of genomic research focuses on just 10 percent of our genes, which means we understand the clinical utility of a very small portion of our genetic makeup. Meanwhile, 78 percent of data used to uncover links between genetic mutations and an individual’s risk for disease comes from people of primarily European descent. This fogs the lens through which we view genetic discovery and narrows the pool of people who can benefit from genetic research. These factors—combined with the speed at which new genetic tests and therapies are being released—make it increasingly complex to determine how to apply these advancements to healthcare treatment and disease management.

What is needed: Increased access to genetics expertise. Pre-test genetic counseling helps to ensure the right testing and downstream care decisions for consumers, while post-test counseling can help physicians interpret the results and work with patients to ensure appropriate next steps in care. On the health plan side, investing in access to clinical and molecular genetics specialists can inform policies around genetic testing and therapies. With a national shortage of genetic specialists, seeking ways to expand the reach of genetics expertise—such as through telehealth consultations—will be critical in 2020 and beyond.

Trend No. 2: Patients are becoming much more educated about genetics, while the rate of increased education among providers and payers is much slower.

One study of nearly 500 primary care physicians found that while many had formal genetics education, six out of seven physicians did not feel comfortable interpreting genetic test results or working with patients who are at high risk for genetic conditions. On the health plan side, genetic benefits management programs may not be in place or may suffer from a lack of expertise and resources to keep up with genetic and genomic science.

Patients sense the disconnect—and they are taking matters into their own hands. At InformedDNA, for example, we’re seeing a rising number of patients interested in genetic insight that they haven’t been able to receive through their providers and/or health plans. In 2020, we predict we’ll see an increase in “consumer medical genetics,” with patients deciding with little guidance whether to test, when to test, and what to do with the results.

The risk: Patients could rely on less reputable providers of genetic testing services to get the answers they seek. They also could find themselves vulnerable to inaccurate interpretation of the results.

What is needed: Pre-test provider decision support with expert opinion review. There is limited access to genetic specialists, but more interest from providers in obtaining genetics expertise. Health plans should consider point-of-care genetic test ordering support for physicians, such as automated decision support tools and providing easy access to talk with a genetic counselor to:

  • Explore whether testing is needed
  • Determine whether the requested test is medically appropriate
  • Identify clinically appropriate options for testing, based on the patient’s medical and family history

Our experience shows that when this type of consultation is performed, 25 percent of these conversations result in a more clinically appropriate test being ordered than was originally requested.

Trend No. 3: Regulatory bodies are implementing more genetic guidelines based on scant evidence.

The framework for regulatory approval of genetic tests and therapies hasn’t kept pace with advancements in genetic testing technology, including the ability to sequence genetic information at scale, rapidly identify genetic mutations, and determine the relationship between genetic variants and disease. As a result, many tests and therapies are approved by the FDA without a great deal of evidence around their clinical utility.

Additionally, a significant number of genetic tests being released today are laboratory-developed tests, which aren’t regulated by the FDA. While the analytical validity of these tests is assessed prior to their release, evidence of clinical utility (for or against) often isn’t obtained until well after the test has been introduced to the market. This puts the onus on providers and payers to understand the benefits and limitations of genetic tests and therapies for patients—a pressure that likely will intensify in 2020.

The risk: With providers and patients left to bridge the gap between what the FDA approves and what health plans will cover, out-of-pocket costs for genetic testing and therapies are rising. We’ve witnessed the increased incidence of “financial toxicity”: When patients are willing to go into extreme financial debt to cover genetic therapies that are not covered by health plans, yet are approved by the FDA and recommended by their providers. Cancer patients are most likely to experience financial toxicity but even patients with rare genetic diseases have had to look for unprecedented solutions, such as mortgaging their homes, to afford gene therapy.

What is needed: A best-practice approach to genetic policy development. Bridging the gap between the evidence that health plans require and what is currently available is key to greater consistency in coverage. Leading health plans are considering modifications to their coverage policies to accommodate the unique pace of development of genetic tests.

Trend No. 4: Panel testing continues to increase, heightening the risk of hidden billing costs.

Genetic testing spending is becoming an above-the-radar issue for health plans and providers, and one of the biggest drivers of costs is panel testing: the practice of bundling tests for multiple genes, even when only a single gene or a small subset of genes is clinically indicated. For example, it’s not uncommon for many units of a code to be billed on a single claim, when the actual test performed typically would require only one. Over-payments typically occur when claims processing systems and filtering technologies are unable to:

  • Correctly identify a genetic test, and/or
  • Catch instances when many units of a particular code are billed on a single claim, when the actual test performed typically would require only one

The risk: Significant unnecessary payments. In one instance, 15 percent of single-code claims for a test were billed with multiple units when one unit was appropriate. The impact was greater than $5 million in inappropriate spend.

What is needed: Automated claims edits and payment rules. Given the complexity of genetic testing claims, algorithms that empower health plans to more accurately identify tests and spot claims that fall outside the health plan’s policy help reduce hidden costs associated with panel tests. They also support a timely response to a changing scientific landscape, especially when claims edits and rules are updated frequently based on genetics and genomics expertise.

Navigating a New Era of Genetic Advances

With more than 75,000 genetic tests currently on the market and more being introduced each day, the ability to make decisions based on clinical evidence is critical to capturing the full value of precision medicine. Collaborative data sharing, increased access to clinical and molecular genetics and genomics expertise, counseling, and technologies, and a commitment to best practices will be key to achieving increased access, affordability, and utility in a rapidly changing genetic landscape.

To learn more about how to navigate current and future trends across stakeholders in the genetics and genomics space through InformedDNA’s services, please reach out and we’ll get in touch quickly.


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