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

Area of Science:

• Genomics
• Molecular Diagnostics
• Prenatal Screening

Background:

• Cell-free DNA (cfDNA) prenatal screening tests are increasingly used in clinical settings.
• Positive insurance coverage significantly influences the adoption of these genetic tests.

Purpose of the Study:

• To evaluate the framework used by payers for coverage decisions regarding cfDNA prenatal screening.
• To inform coverage decisions for other novel sequencing-based tests.

Main Methods:

• Analysis of publicly available coverage policies from 19 major US private payers.
• Data sourced from the University of California San Francisco TRANSPERS Payer Coverage Policy Registry.
• Policies reviewed up to February 2016.

Main Results:

• All payers cover cfDNA screening for trisomies 21, 18, and 13 in high-risk pregnancies, based on clinical validity (CV) and utility (CU) evidence.
• Eight payers extended coverage to average-risk pregnancies starting August 2015, citing new studies and guidelines.
• Most payers struggled to independently assess analytic validity (AV) of the tests.

Conclusions:

• Payers use a standard analytic validity (AV), clinical validity (CV), and clinical utility (CU) framework for cfDNA screening.
• Interpretation of evidence sufficiency varied among payers.
• Professional guidelines, robust CV studies, and health outcome models heavily influenced coverage decisions.