Table 3 Payers’ views on aspects of clinical utility for pediatric and prenatal exome sequencing
% 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 ESa | 100% (14/14) | 100% (14/14) |
Change in clinical interventions informed by ESa | 100% (14/14) | 43% (6/14) |
Withdrawal of futile interventions, and/or transition to palliative care | 64% (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, research | 50% (7/14) | 21% (3/14) |
Utility for family care: parents’ reproductive decisions; diagnoses for family members with suspected genetic conditions | 50% (7/14) | 0% |
Prenatal ESb | ||
Referral to tertiary center for delivery and specialized medical management of newborn | 43% (6/14) | 21% (3/14) |
Termination decision, informed by ES | 0% | 0% |
Upon birth, withdrawal of futile interventions, and/or provision of palliative care only | 0% | 0% |
Obtaining genetic diagnosis prenatally | 29% (4/14) | 0% |
Informational utility: directing family to disease-specific support, education, research | 0% | 0% |
Utility for family care: parents’ reproductive decisions; diagnoses for family members with suspected genetic conditions | 0% | 0% |
