Industry Voices—Whole-genome sequencing ultimately benefits payers

Whole-genome sequencing has been used to successfully diagnose inherited disorders, including inherited cancers, in pediatric and adult patients alike. However, few healthcare insurance providers cover WGS—even though the cost of sequencing has decreased significantly in recent years. (Getty/Gilnature)

When solving a problem, taking a step back and looking at the big picture is often a wise tactic.

In the context of diagnosing patients with inherited disorders, looking at the big picture can be essential for identifying the underlying cause. Genetic testing based on whole-genome sequencing (WGS) does exactly that. This approach starts by sequencing the patient’s entire DNA, identifying all the unique changes present and then matching those changes to the patient’s clinical symptoms in order to identify which ones are causal.

Until recently, many patients with inherited disorders had no option but to follow a long, arduous and costly “diagnostic odyssey.” This odyssey often takes them from one specialist to another and requires multiple rounds of testing which can drag on for years. Under this approach, patients become frustrated with what feels like endless visits to doctors and never-ending sample requests for yet another test.

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Health insurance providers are stuck in the same drawn-out “odyssey”, spending regularly for costly visits and tests. WGS has changed the process of genetic testing, making it possible to reach a diagnosis more quickly and effectively. Even when a WGS test result is negative, the actionability is still greater as a comprehensive set of potential causes has been ruled out. While patients benefit from receiving much-needed answers sooner, insurance companies simultaneously benefit from significant cost savings.

WGS has been used to successfully diagnose inherited disorders, including inherited cancers, in pediatric and adult patients alike. However, few healthcare insurance providers cover WGS—even though the cost of sequencing has decreased significantly in recent years. When they do cover WGS, it tends to be “rapid” WGS for critically ill NICU patients. In the time-critical environment of the NICU, the value of comprehensive WGS is being recognized by a growing number of insurance providers, including some state Medicaids.

So, why is this same approach then considered experimental and not covered for other patients, and how can we change this situation?

One of the obstacles that has been holding insurance providers back from covering WGS is the lack of detail in CPT and reimbursement coding for these tests. Having a small number of generic codes makes it exceedingly difficult for insurance companies to evaluate exactly what the genetic test is for and whether it is warranted. In the absence of descriptive, transparent coding it becomes difficult for insurance companies to make informed decisions regarding payments, which often leads to a default position of denying coverage. Many payers are trying to address this by using genetic benefit managers and lab benefit managers to evaluate genetic tests. As these managers more routinely ask for and receive information prior to testing, they will be able to make more accurate reimbursement decisions. Supporting these managers with details of the testing methodology and scope and developing more comprehensive coding for WGS are two major changes that will make insurance companies more comfortable with authorizing payment for WGS.

RELATED: Blue Shield of California to cover rapid whole-genome sequencing for critically ill children 

This highlights a second obstacle: the lack of consistent guidelines for evaluating sophisticated genetic testing technologies, including WGS testing. The clinical evidence for supporting such tests is out there for all carriers, yet there is no standard blueprint for making decisions about coverage. It’s not uncommon to see the same line of evidence cited in support of decisions for both coverage and non-coverage. As an example, consider the situation described above where “rapid” WGS is covered in a NICU setting where all parts of the genome are recognized as clinically useful, but, when used to treat these same patients in a different setting of care, WGS is considered experimental.

Education along with efforts to develop and adopt consistent guidelines for diagnosis and treatment of genetic disorders are needed. Having a uniform approach will provide insurance companies with greater clarity during the evaluation process.

While it is clear that insurance companies face multiple obstacles to broadly implement WGS-favorable policies, it’s equally clear that they have as much to gain as their patients. WGS is solving medical puzzles, providing patients with a faster more reliable diagnosis, leading to earlier treatment and ultimately better outcomes. At the same time, insurers save on the cost of multiple unnecessary doctor appointments and a battery of lab work. It’s a win-win for everyone.

Daryl Spinner is vice president of market access and reimbursement for Variantyx.