UCSF

TRANSPERS & UCSF P3EGS publish study in GIM, finding 71% of private payers now cover pediatric Exome Sequencing (ES) but no payers covered prenatal ES

In a Genetics in Medicine article, TRANSPERS in collaboration with the UCSF Program in Prenatal and Pediatric Genomic Sequencing (P3EGS) conducted the first study to directly examine perspectives of U.S. payers on insurance coverage and clinical utility of pediatric and prenatal exome sequencing. Exome Sequencing is increasingly utilized in diagnosis of structural anomalies and neurodevelopmental disorders in fetuses, infants and children, but formal insurance coverage remains fragmented and variable in the pediatric setting, while lacking in the prenatal setting.

We found that 71% of payers participating in the study covered pediatric Exome Sequencing because they saw merit in available interventions or in ending the diagnostic odyssey. However, no payers covered prenatal Exome Sequencing because they saw no merit until in utero interventions become available. The study cohort represented 14 payers collectively covering about half of the total US population.

Our results suggest that payers' views on Exome Sequencing's clinical utility are expanding to include informational utility, aligning with the views of patients and other stakeholders. This work builds on our previous paper published in Genetics in Medicine (Douglas et al, 2019), which focused on the question "Do payers cover pediatric exome sequencing?" The present paper examines why payers cover or don't cover pediatric exome sequencing, as well as examining prenatal exome sequencing.

The UCSF P3EGS Program examines the utility of whole exome sequencing as a tool for 1) diagnosing infants and children with serious developmental disorders, and, 2) providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly, while addressing the ethical, social and economic issues in the delivery of genomic sequencing results to diverse populations, such as underrepresented minorities and the medically underserved.