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, in part due 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 U.S. private payers with publicly available policies through February 2016, building from the UCSF 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, 8/19 payers also cover 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.

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Insurance Coverage Policies for Pharmacogenomic and Multi-Gene Testing for Cancer

“…Few randomized controlled trials assessed the clinical utility of multi-gene tests given the complexities of such tests. Payers that cover multi-gene tests for NSCLC based their policies on clinical guidelines as well as a wide range of studies beyond randomized controlled trials including clinical validation studies, cohort studies, editorials, and reviews [ 43 ]. Finally, insurance coverage decisions are complex and they are based on evidence (including clinical utility evidence, and analytic and clinical validity information) as well as nonscientific factors (e.g., needs of the membership and lab contracting considerations), which are not outlined in coverage policies [ 41 ].…”

Payer coverage policies for multigene tests

“…We report here on coverage across payers and conditions; other analyses have examined coverage for panels including BRCA1 / 2 (ref. 5), coverage of non-invasive prenatal screening tests 6 , and the evidence cited in coverage decisions 7 .…”