Table 3 Payers’ views on aspects of clinical utility for pediatric and prenatal exome sequencing

From: Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

 % of payers who agree with this aspect of utility, N = 14% of payers who agree that this aspect is sufficient for clinical utility, N = 14
Pediatric ESa  
 Health outcomes of clinical interventions informed by ESa100% (14/14)100% (14/14)
 Change in clinical interventions informed by ESa100% (14/14)43% (6/14)
 Withdrawal of futile interventions, and/or transition to palliative care64% (9/14)36% (5/14)
 End of diagnostic odyssey (negative result: rule-out, or positive result: genetic diagnosis)64% (9/14)21% (3/14)
 Informational utility: directing family to disease-specific support, education, research50% (7/14)21% (3/14)
 Utility for family care: parents’ reproductive decisions; diagnoses for family members with suspected genetic conditions50% (7/14)0%
Prenatal ESb  
 Referral to tertiary center for delivery and specialized medical management of newborn43% (6/14)21% (3/14)
 Termination decision, informed by ES0%0%
 Upon birth, withdrawal of futile interventions, and/or provision of palliative care only0%0%
 Obtaining genetic diagnosis prenatally29% (4/14)0%
 Informational utility: directing family to disease-specific support, education, research0%0%
 Utility for family care: parents’ reproductive decisions; diagnoses for family members with suspected genetic conditions0%0%
  1. ES exome sequencing.
  2. aCompared with current standard of care diagnostics in pediatric setting.
  3. bCompared with current standard of care diagnosis in in prenatal setting, and to ES postbirth.