PAMA: What Happened to Exome, Genome, and NIPT?

 Under PAMA, what happens to Exome, Genome, and NIPT beginning in 2027?

Here's the data, click to enlarge:

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Exome 2018 

In 2018 PAMA data, Exome came in at $4780, sibling exome at $12,000, and exome re-evaluation aka "dry lab" at $320.   This data was based on very few claims and some thought the $12,000 number may have mistakenly been meant as the family price (parent, parent, child = $4000x3 = $12,000).

Exome 2025

Regardless, the new prices (2025 prices reported in 2026) are exome $3680, sibling $6480, and dry lab $230.  About 30 labs reported an exome price.  [Note, CMS CLFS prices won't drop more than 15% per code per year.]

Genome 2018 to 2025

Moving on to genome, the prices were $5031, $2709, and $2337.   Genome drops to $3018, which is a 40% drop.   Sibling genome is $1650 (much less than sibling exome), and dry lab has no PAMA price report (CMS will  gapfill or crosswalk it).  Note CMS also has proposed taking "dry lab" genomics (81417, 81527) off the CLFS.

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NIPT 81420

For NIPT, there is the general code 81420 $759 and microdeletion 81422 $759.   These drop to $584 and $621, about -20%.  No surprise that 81420 was reported to CMS by 121 labs, much more than the other codes I review in this blog.  (Not shown here; PLA codes for NIPT for a few labs).

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It's possible to get raw data and map the distribution of prices reported to CMS, of which only the median result is seen in the Excel.  For more background, an example of distribution, and links, see here.

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###   Click to enlarge.  Distribution of NIPT per CMS PAMA data.

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SIDEBAR: 121 labs and LDT NIPT?

No FDA-cleared or approved U.S. kit was identified for the cell-free DNA prenatal screening represented by 81420. FDA has described these tests as lacking its authorization; its published list of cleared or approved molecular tests contains no corresponding NIPT assay.

However, 121 laboratories reporting prices does not establish there must be 121 independently developed NIPT assays.  PAMA collects payment information, while inter-laboratory billing arrangements can include specimens sent elsewhere for testing. Send-out testing—with the referring laboratory billing the payer—is therefore a plausible explanation for part of the count. But the exact number of operating NIPT labs - whether 5, 10, or 121 - can't be established from the PAMA data. 

##  Try.

A reasonable working estimate is about 10 distinct U.S. NIPT assay families, with a plausible range of 10–20 when separately validated local versions are included. That is an informed estimate, not a verified census.

Five prominent offerings are readily identifiable: Natera’s Panorama, Labcorp’s MaterniT21, Quest’s QNatal, Myriad’s Prequel, and BillionToOne’s Unity. Additional assays and laboratory implementations, including ARUP’s, push the count beyond five. Natera

The counting problem is that a distinct laboratory implementation need not represent a wholly independent invention: laboratories may use shared commercial technology but validate their own clinical assay. Conversely, a laboratory listing NIPT may simply send it out—Mayo’s MaterniT21 listing explicitly names Sequenom/Labcorp as the performing laboratory. aruplab.com

Thus, “roughly a dozen underlying assays, distributed through a much larger network of billing and referring laboratories” is a defensible characterization. The 121 PAMA reporters cannot establish the exact number, and the broader NIPT market also includes tests billed under codes other than 814