Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited

Genet Med. 2019 Jan;21(1):152-160. doi: 10.1038/s41436-018-0043-3. Epub 2018 Jul 12.


Purpose: Exome sequencing (ES) is being adopted for neurodevelopmental disorders in pediatric patients. However, little is known about current coverage policies or the evidence cited supporting these policies. Our study is the first in-depth review of private payer ES coverage policies for pediatric patients with neurodevelopmental disorders.

Methods: We reviewed private payer coverage policies and examined evidence cited in the policies of the 15 largest payers in 2017, and trends in coverage policies and evidence cited (2015-2017) for the five largest payers.

Results: There were four relevant policies (N = 5 payers) in 2015 and 13 policies (N = 15 payers) in 2017. In 2015, no payer covered ES, but by 2017, three payers from the original registry payers did. In 2017, 8 of the 15 payers covered ES. We found variations in the number and types of evidence cited. Positive coverage policies tended to include a larger number and range of citations.

Conclusion: We conclude that more systematic assessment of evidence cited in coverage policies can provide a greater understanding of coverage policies and how evidence is used. Such assessments could facilitate the ability of researchers to provide the needed evidence, and the ability of clinicians to provide the most appropriate testing for patients.

Keywords: Neurodevelopmental delay; Payer coverage policies; Pediatrics; exome sequencing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Cost-Benefit Analysis / economics
  • Exome / genetics*
  • Exome Sequencing / economics*
  • Humans
  • Insurance Coverage / economics
  • Neurodevelopmental Disorders / economics*
  • Neurodevelopmental Disorders / genetics*
  • Neurodevelopmental Disorders / pathology