TRANSPERS Researchers Find Increase in Private Payer Coverage of Whole Exome Sequencing in collaboration with the NHGRI-funded UCSF Program in Prenatal and Pediatric Genome Sequencing

UCSF Center for Translational & Policy Research on Personalized Medicine (TRANSPERS) researchers and collaborators from the UCSF Program in Prenatal and Pediatric Genome Sequencing (P3EGS), part of the NHGRI-funded Clinical Sequencing Evidence-Generating Research Program (CSER), published their first major study in Genetics in Medicine. Researchers found that coverage of whole exome sequencing (WES) for pediatric neurodevelopmental delays has been increasing since 2015. WES is being adopted for some neurodevelopmental disorders in pediatric patients and enables early identification and potential treatment. However, little is known about current coverage policies or the evidence cited supporting these policies.

This study is the first in-depth review of private payer WES coverage policies for pediatric patients with neurodevelopmental disorders. The study found that five of the largest eight US private payers did not cover WES in 2015, but eight of the 15 largest payers covered WES by 2017. We also found variability in the types of evidence cited and trends in the evidence cited with positive coverage policies citing newer, and more citations and negative coverage policies citing older, fewer citations, and more neutral or unfavorable evidence.

The study demonstrates the need for systematic evaluation of evidence regarding WES (and other multi-gene panels) in coverage policies in order to gain a better understanding of the payer decision-making process and the evidence required. These assessments could facilitate the ability of researchers to provide the needed evidence and provide doctors with the ability to order the most appropriate testing for patients.

About the UCSF Program in Prenatal and Pediatric Genome Sequencing (P3EGS)

The UCSF Program in Prenatal and Pediatric Genome Sequencing (P3EGS) is studying 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. It is also addressing ethical, social and economic issues in the delivery of genomic sequencing results to diverse populations, such as underrepresented minorities and the medically underserved.

About CSER

The Clinical Sequencing Evidence-Generating Research (CSER) Program includes six clinical sites and one Coordinating Center who are working together to: 1) define, generate and analyze evidence regarding the clinical utility of genome sequencing; 2) research the critical interactions among patients, family members, health practitioners, and clinical laboratories that influence implementation of clinical genome sequencing; and 3) identify and address real-world barriers to integrating genomic, clinical, and healthcare utilization data within a healthcare system to build a shared evidence base for clinical decision-making.