Abstracts

Rationale:
Peer reviewed studies and professional societies support exome sequencing (ES) and genome sequencing (GS) for individuals with epilepsy. It is known that payer coverage can impact access to genetic testing, so we aimed to compare (1) payer coverage for broad multigene panels (MGPs), ES, and GS for individuals with epilepsy in the outpatient setting and (2) payer coverage requirements for ES for individuals with epilepsy in the outpatient setting.

Methods:
We reviewed publicly available coverage policies from 12 national payers, regional payers, State Medicaids, and laboratory benefit managers (LBMs). We compared the coverage for MGPs, ES, and GS for outpatient genetic testing for individuals with epilepsy. If publicly available policies did not explicitly address the testing, it was categorized as no policy. For ES we compared the covered indications, provider restrictions, genetic counseling requirements, and payer specific form requirements.

Results:
For the indication of epilepsy in the outpatient setting, most payers/LBMs evaluated (n=10) had coverage for ES. The policies for MGP varied with coverage, no coverage, and no explicit policies. Most policies did not cover GS, although two national payers began covering GS in 2023 and one LBM also has coverage. (See Figure 1). For ES for individuals with epilepsy, there was variability in criteria for coverage across payers. For clinical features, three policies covered ES for epilepsy at any age, one for epilepsy individuals ≤ 21 years of age, three only for epileptic encephalopathy with an onset < 3 years of age, two required an additional clinical finding, and one had non-specific criteria of neurodevelopmental disorders. For provider restrictions, most policies required a specialist with expertise in clinical genetics be involved in the ordering or evaluation. Most policies also had a counseling requirement; however, not all define the provider that must perform the counseling. Some payers have a specific form that must be completed.

Conclusions:
Currently, for the indication of epilepsy in the outpatient setting, there is broader payer coverage for ES than MGPs or GS. Several payers did not have explicit policies for MGP which leads to provider and patient uncertainty regarding coverage. Review of ES policies for individuals with epilepsy demonstrate extremely variable and complicated criteria for coverage with these policies varying widely in the clinical features, provider restrictions, genetic counseling requirements, and need for a payer-specific form. This policy “potpourri” is contributing to provider administrative burden, and even more importantly, disparities in care. Additionally, coverage for GS is lagging ES, even with supportive peer reviewed studies and professional societies. There is a need for provider engagement with payers to broaden and simplify both ES and GS coverage so individuals with epilepsy can have access to the genetic tests that improves their care and management.

Funding: None