Genomic Testing Utilization Is Low & Geographically Inconsistent but Not Just Due to Payor Coverage

Genomic testing is inconsistently utilized in the U.S., even in states with favorable coverage policies. Those are the findings of a report from the Personalized Medicine Coalition (PMC) released in early August. Conducted in partnership with the Blue Cross Blue Shield Association, Concert Genetics and Illumina, the project analyzed trends and potential barriers to genomic testing access and utilization across the U.S. While wide variation and lack of clarity in payer coverage policies present barriers to genomic testing, the report found that there may be other factors preventing greater adoption of such testing.

The Diagnostic Challenge

Because no two people are exactly the same, medical management must be personalized can’t be one size fits all. But the effectiveness of personalized medicine relies on utilization of genomic testing and other diagnostics to inform medical decision making. The tests are there. But they’re new and, at least in the eyes of many insurers and other payors, unproven. The question, then, is whether genomic tests are being utilized and, if not, what can be done to promote greater utilization?

To answer these questions, the project researchers analyzed utilization and coverage of genomic testing in three clinical areas over a three-year period:

  • Noninvasive prenatal testing (NIPT) for prenatal screening;
  • Whole exome sequencing (WES) for rare and undiagnosed genetic diseases; and
  • Comprehensive genomic profiling (CGP) of tumors in advanced cancer patients.

To analyze utilization and coverage patterns, they drew from four sources of aggregated data:

  • Test and policy catalogs;
  • S. census data;
  • Payer claims data; and
  • Plan membership data.

The 3 Key Findings

The report makes three key findings:

  1. Geographic Inconsistencies in Utilization

Medically appropriate genomic testing is inconsistently utilized across U.S. states, the report finds. Examples of notable inconsistencies from 2019 annualized utilization data from California, Florida, Illinois and Texas:

  • NIPT utilization was between 36 percent and 72 percent higher in Texas than in California, Illinois and Florida;
  • WES utilization in California was 71 percent higher than in Florida and 65 percent higher than in Illinois; and
  • CGP utilization was between 47 percent and 69 percent higher in Florida than it was in Texas, Illinois and California.
  1. Geographic Inconsistencies in Payor Coverage

The report also finds that payor genomic testing coverage policies vary considerably among states and are inconsistent. NIPT had the highest average policy scores and relatively consistent coverage across the U.S. But average policy scores for WES and CGP were lower and less consistent nationwide. Even so, coverage of all three tests has been growing over time, the report notes.

  1. More Coverage Doesn’t Necessarily Lead to More Utilization

Perhaps surprisingly, the report finds that favorable genomic test coverage policies don’t always correlate with higher utilization rates across states. Thus, in some of the states where coverage expanded, there were no correlating increases in utilization. In Illinois, New Jersey and Texas, genomic testing utilization increased but so did utilization in all other clinical areas. Some of the states with high coverage policy scores saw low utilization, e.g., Colorado for WES and Washington for NIPT and CGP. And in still other states, utilization was high even though the coverage score was low (e.g., New York and Connecticut for NIPT; and Ohio and California for CGP and WES).

Utilization of Noninvasive Prenatal Testing (NIPT)

Source: PMC


Utilization of Whole Exome Sequencing (WES)

Source: PMC

Utilization of Comprehensive Genomic Profiling (CGP)

Source: PMC


Utilization of genomic testing remains low and inconsistent across the country. Local payor coverage and reimbursement policies mirror that inconsistency and aggravate the problem; but they aren’t the only reason it exists. The PMC report concludes that there are also other access barriers that may be stifling utilization of genomic testing, including:

  • Lack of awareness and education about genomics and testing technologies;
  • Socioeconomic disparities; and
  • Inadequate genomic testing system processes and practices.

So, while persuading and standardizing the payors will be an important part of the solution, these other barriers will also have to be addressed to deliver on the promise of genomic testing and personalized medicine.


You have 2 articles left to view this month.

Your 3 Free Articles Per Month Goes Very Quickly!
Get a 3 month Premium Membership to
one of our G2 Newsletters today!

Click on one of the Newsletters below to sign up now and get unlimited access to all articles, archives, and tools for that specific newsletter!









Try Premium Membership