New UCSF Center for Translational and Policy Research on Personalized Medicine (TRANSPERS) Study Examines Reasons for Rapid Insurance Coverage for Cell-Free DNA Prenatal Screening

A newly published study based on data from the UCSF TRANSPERS Payer Coverage Policy Registry© provides an example of where insurers rapidly and widely covered a next-generation genomic sequencing-based test – cell-free DNA prenatal screening. This study, published in Genetics in Medicine, provides “lessons learned” for coverage of other new genomic tests entering clinical care. Lead authors were Andrew P. Dervan MD MBA (University of Washington) along with Patricia A. Deverka MD MS (American Institutes for Research); senior author was Kathryn A. Phillips PhD (Department of Clinical Pharmacy, UCSF).

Payer coverage of new genomic tests - such as multigene panels, whole exome sequencing, and whole genome sequencing - will be essential if these tests are to be more widely adopted. Cell-free DNA screening (cfDNA, also called non-invasive prenatal screening), a non-invasive prenatal test for genetic diseases, has been rapidly and widely adopted in routine obstetric care in the U.S, partly due to rapid and widespread insurer coverage. The test uses maternal blood to screen pregnancies for the most common fetal chromosome anomalies, e.g., Down syndrome. The test has several advantages over other methods (it can be done earlier in pregnancy at 10 weeks and has higher accuracy), although it does not detect other birth defects and results have to be confirmed with invasive diagnostic testing.

The study 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©. This unique registry, which includes coverage policies on multigene genomic tests, was developed with a team of collaborators from multiple institutions (UCSF, Tufts Medical Center, American Institutes for Research, and Center for Business Models in Healthcare) with funding from the National Human Genome Research Institute.

Our analysis revealed that cfDNA screening has received broad and rapid private payer coverage in certain indications, unlike other new sequencing-based tests that have faced reimbursement challenges. We found that all payers studied cover cfDNA screening for detection of trisomies 21, 18 and 13 in high risk, singleton pregnancies on the basis of large clinical validity studies, decision analysis modeling of clinical utility, and professional guideline recommendations. Payers did not require evidence from prospective clinical utility/health outcomes studies, as has been required for some tests. Only a subset of payers covered the test for average risk pregnancies (as of Aug. 2015). Additional insights from the paper include the observation that lack of robust analytical validity data was not a barrier to coverage in this setting, and despite the use of widely varying technology platforms and interpretation methods, insurance companies did not distinguish coverage among the various test manufacturers.