Payer decision making for next-generation sequencing-based genetic tests: insights from cell-free DNA prenatal screening

Abstract

Purpose: Cell-free DNA (cfDNA) prenatal screening tests have been rapidly adopted into clinical practice, due in part to positive insurance coverage. We evaluated the framework payers used in making coverage decisions to describe a process that should be informative for other sequencing tests.

Methods: We analyzed coverage policies from the 19 largest US private payers with publicly available policies through February 2016, building from the University of California San Francisco TRANSPERS Payer Coverage Policy Registry.

Results: All payers studied cover cfDNA screening for detection of trisomies 21, 18, and 13 in high-risk, singleton pregnancies, based on robust clinical validity (CV) studies and modeled evidence of clinical utility (CU). Payers typically evaluated the evidence for each chromosomal abnormality separately, although results are offered as part of a panel. Starting in August 2015, 8 of the 19 payers also began covering cfDNA screening in average-risk pregnancies, citing recent CV studies and updated professional guidelines. Most payers attempted, but were unable, to independently assess analytic validity (AV).

Conclusion: Payers utilized the standard evidentiary framework (AV/CV/CU) when evaluating cfDNA screening but varied in their interpretation of the sufficiency of the evidence. Professional guidelines, large CV studies, and decision analytic models regarding health outcomes appeared highly influential in coverage decisions.Genet Med advance online publication 22 September 2016.

Figure 1. Temporal trends in coverage of cell-free DNA prenatal genetic screening tests in women of high and average risk for fetal aneuploidy with professional guideline changes, technology assessments and representative clinical publications

Five-year timeline of initial cfDNA screening test launch and illustrative payer coverage decisions (all above timeline) with corresponding professional society guideline changes, technology assessment reports and key clinical publications with author, journal and cfDNA screening platform noted (all below timeline); all events with dates of publication (month/year).