Brief Blog: Genomeweb Deep Dive on BCBS Requesting More Proof of NGS Validation

Interesting (subscription based) 5000 word article at Genomeweb, by Turna Ray.  She describes a major BCBS plan, Highmark, wanting additional  third-party validation on NGS tests for both somatic and germline variants.   Highmark wants this done by March 2023.   

It's not clear what the range of validating authorities is, but it's clear, right now they exclude CLIA and CAP.   (However, potentially CAP could add what they require, over time).  In the article, Highmark's Matt Fickie MD is quoted as: "CLIA and CAP are a joke, and they all know that."

Much of the article focuses on validation certified by the Center for Genomic Interpretation, led by Julie Eggington (the CGI).  (MolDx isn't mentioned, but there is a long discussion of New York State validation.)

The article is described as first of two.

• Genomeweb article here.  (Part 2 here.)
• One of the first links is a 2021 review on the "art and science" of variant interpretation, authors Giles to Eggington, here.
• Find the CGI here.

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The article quotes the familiar numbers that there are 167,000 genetic tests, that 22,000 new tests per year are marketed, etc.  But if you look at Medicare data, 90% or more of the payments are under just 10-15 codes, not leaving much room for the other 166,000 tests.