ELSIcon2022 Flash: Ensuring equity through insurance coverage for whole exome sequencing and reanalysis

ELSIcon2022 • Flash • June 3, 2022

Caroline Horrow

With the promise of whole exome sequencing (WES) and whole genome sequencing (WGS), some have argued for an ethical obligation to reinterpret or reanalyze sequence data over time. But as WES moves from research to the clinic, access to both sequencing and reanalysis will likely be subject to the discretion of insurers. With a few limited exceptions, insurers are not legally required to cover WES/WGS or reanalysis, and limited empirical data describe the current extent of coverage.

In light of this uncertainty, this study explores the current state of insurance coverage of WES and reanalysis, and the extent to which coverage policies reflect bioethical justifications. I analyzed policies from the top 3 payers in each state’s individual, small group, large group, Medicare Advantage, and Medicaid MCO markets, as well as Medicare and state Medicaid programs. Coverage determinations were identified for over 450 plans, administered by over 125 unique payers.

Approximately 60% of plans provided coverage for WES in at least some cases, typically for pediatric patients with suspected genetic disorders. However, only 30% of plans provided coverage for WES reanalysis. Additionally, very few policies articulated clinical criteria for WES reanalysis. Available criteria were largely based on new genomic knowledge, new patient symptoms, and family information.

These results indicate that WES coverage is more expansive than previously documented, but reanalysis services are still an afterthought. Regulation may be needed to ensure equitable access not only to WES, but also to the long-term benefits of reanalysis.