Genomic Test Coverage, Utilization Inconsistent Across U.S., Study Finds

Aug. 25, 2020
Data from California showed more than twice the utilization of whole exome sequencing per million members than seen in Florida and Illinois

A recent report from the Personalized Medicine Coalition found inconsistent coverage and reimbursement policies remain barriers to medically appropriate genomic testing access, but they do not entirely explain inconsistent utilization. Other access barriers need to be better understood and addressed, the researchers said.

The Personalized Medicine Coalition represents companies, providers and payers, promoting the understanding and adoption of personalized medicine concepts and services. The report, “Understanding Genomic Testing Utilization and Coverage in the U.S.,” was created with support from Concert Genetics and Illumina. The genomic testing utilization analyses included in the report use a proprietary database from Concert Genetics. The database includes test catalog data, claims data, health plan membership data, and U.S. census data.

Studying patients covered by commercial insurance in 2019, the researchers found that both utilization and payer coverage of genomic testing vary widely between states for noninvasive prenatal testing (NIPT) in prenatal screening, whole exome sequencing (WES) in patients with rare and undiagnosed genetic diseases, and comprehensive genomic profiling (CGP) of tumors in patients with advanced cancer.

The average estimated annualized utilization rates from 2019 for four large states (California, Texas, Illinois and Florida) illustrate inconsistency in utilization. NIPT utilization per million members was between 36 percent and 72 percent higher in Texas than in the other three states. For WES, California showed more than twice the utilization per million members than seen in Florida and Illinois (71 percent higher and 65 percent higher, respectively). CGP utilization per million members was between 47 percent and 69 percent higher in Florida than in the other three states.

However, several states showed low utilization despite high coverage policy scores in some clinical areas (Washington for NIPT and CGP; Colorado for WES). Others showed high utilization despite lower coverage levels in some clinical areas (e.g., New York and Connecticut for NIPT; California and Ohio for CGP and WES).

Some states expanded coverage of genomic testing, but in many cases, this did not correlate with increased utilization. For example, Rhode Island, Vermont, and New Mexico all received a higher coverage policy score for WES in 2019 compared to 2018. However, this did not correlate with an increase in utilization.

The report notes that a lack of payer coverage of genomic testing may negatively impact utilization because providers could be reluctant to order tests that would increase direct costs for their patients. Additionally, non-coverage policies may bolster perceptions about genomic testing as a fledgling technology with limited clinical and economic utility.

However, the report states that even with favorable genomic testing coverage in some states, payer policies vary widely between states and clinical areas. Policies can also be inconsistently applied and subject to change over time. Inconsistency and lack of clarity in coverage policies continue to present barriers to utilization, as providers may not be aware of genomic testing coverage availability in specific regions and/or contexts.

The fact that coverage levels vary widely between states and are inconsistent across clinical area suggests a coverage policy landscape that may be confusing for providers. If coverage policies are not clear or are difficult to navigate, the report says, providers’ abilities to use genomic testing would likely be lower. “However, it is likely that coverage policy issues do not entirely explain inconsistent utilization. This is because favorable policies do not always correlate with higher estimated utilization rates, observed in many cases and clinical contexts.”

The report says many challenges still need to be addressed. “Other barriers, such as a lack of awareness  and education about genomics and testing technologies, socioeconomic disparities, and inadequate system processes and practices related to genomic testing, may also be stifling clinical adoption.”

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