Across verticals and audiences, our teams are seeing exciting trends in precision medicine that are reshaping the medical landscape at both the primary care and specialty care levels. Innovations and clinical advancements are enabling more genetic insights than ever before, and that momentum will only ramp up even more in 2019.

For example, today, an expectant mother can know with 99 percent certainty whether her child will be born with Down Syndrome through a test that analyzes small fragments of fetal DNA in the mother’s blood. This approach, known as cell-free DNA testing, is groundbreaking because it eliminates the need for amniocentesis, a procedure in which amniotic fluid is drawn from the uterus with a needle. While the risks of amniocentesis are slight, the ability to bypass this invasive procedure with a simple blood test offers a high level of comfort for expectant parents.

Malignant tumor DNA can also be tested with a blood sample, rather than a traditional tumor biopsy, paving the way for oncological precision medicine. And by targeting therapies to specific molecular variants, like BRAF protein mutations in patients with skin cancer, we’re moving toward more effective therapies that produce little or no side effects.

However, the pace of change in precision medicine has proved difficult for both providers and payers to keep up with—and that challenges their ability to make decisions which are medically appropriate and cost-effective. In the coming year, we’ll see steps toward more automated support for payers, providers, and patients in making informed decisions around precision medicine. We’ll also see more progress toward empowered management of genetic testing and therapies.

Navigating the Complexities of Precision Medicine

Keeping up with the level of innovation around precision medicine is no easy feat. More than 74,000 genetic tests and testing products are on the market, with more than 10 new tests released each day. In 2018, rapid advancement in precision medicine presented new hurdles for payers and providers:

  • For providers, data overload stemming from both the number of genetic tests on the market and the vast amount of data returned from genomic tests makes it difficult not only to pinpoint which tests to order but also to interpret the test results and understand the minute but critical differences between results.
  • Providers also struggle to make sense of all the literature and data in order to take advantage of technologic advances and truly practice precision medicine.
  • For payers, simply understanding the magnitude of the difficulties they face in the precision medicine space has proven increasingly difficult. For example, payers may have a sense that they are paying more for genetic benefits than they should, but without the ability to accurately describe and quantify the challenges they face, they are ill-prepared to tackle this problem.
  • Payers also struggle to determine how to make precision medicine available to their members. The current state of genomic advancements—some of which, like Luxturna, offer new hope for patients with rare disorders, but cost hundreds of thousands of dollars per treatment—don’t fit well with traditional managed care models. As a result, payers struggle to support access to precision medicine while ensuring quality of care and effectively controlling costs.

The pace of innovation in precision medicine—as well as the price tag—also impacts patients. Too often, those who wouldn’t benefit from genetic tests and therapies gain access because of a lack of expertise on multiple fronts. Meanwhile, some patients who qualify for genetic testing or therapies aren’t able to afford them—even if their insurance company covers a portion of the cost.

Many health plans are addressing rapid genetic testing growth with utilization management programs, such as preauthorization. These programs are effective in reducing inappropriate testing by helping providers make evidence-based testing decisions. However, only some tests are practical to manage this way. And without point-of-care decision support, it’s difficult for providers to make decisions around genetic testing and therapy that are clinically relevant as well as medically appropriate for a specific patient.

Strategies for a Changing Environment

What advances will we begin to see in 2019 that will help payers, providers and patients overcome precision medicine obstacles? The trends we saw in 2018 point toward these approaches:

  • More automated point-of-care decision support for providers. Automated tools that support more informed decision making around precision medicine will help providers better determine what tests to order and how to interpret and apply genetic test results. Such tools also will help prevent unnecessary denials, unnecessary appeals, and more important, delays in patient care. Our experience with one of our national payer clients shows that 50 percent of providers select a more clinically appropriate test than the one initially ordered when they receive genetic decision support at the time of test ordering.
  • On-demand and automated education and decision support for members. Precision medicine education and decision support empowers members to make informed medical decisions. It also improves member relations while avoiding unnecessary medical spend. For example, our work with a national payer client found that when genetic counseling is a required component of the medical necessity determination process, one out of five individuals who receive counseling and are eligible for genetic testing make an informed decision not to pursue it.
  • Automated claims edits and payment rules built into claims processing systems. InformedDNA’s research shows that 30 percent of genetic testing requests are coded inaccurately. 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—also drives substantial genetic testing overpayment. For payers, automated claims edits and payment rules can help catch instances of overbilling and prevent overpayment.
  • Products that empower payers to deeply understand and take control of the genetics space. This includes not only genetic testing utilization management—both pre-testing and post-service review—but also products that support management of orphan drugs – medications with the potential to diagnose, prevent, or treat rare disorders or conditions. We’ll also see an increase in solutions that help payers ensure that members who undergo precision medicine testing related to orphan drug therapies receive the highest-quality care.
  • Changes in the type of tests being ordered. Within the next five years, we anticipate increased use of large panel tests—or whole exome or genome sequencing—in multiple areas of medicine. This will help ensure variations in the protein-coding region of any gene are identified, rather than the protein-coding region of only a select number of genes.

These advancements will promote the most effective use of precision medicine, optimize genetic benefits spending, and avoid unnecessary, unpleasant experiences for members as well as providers.

Continue the Conversation…

InformedDNA is the authority on the appropriate use of genetic tests. We employ the largest and most experienced full-time staff of lab-independent genetics specialists. And, we advise health plans representing nearly 100 million covered lives on genetic testing coverage policy, pre-authorization programs, lab network optimization, and genetic test claims management. Want to learn more? Just use the form below to get in touch and we’ll get right back to you – or, give us a call at 800-975-4819.


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