Frequency and reasons that parents decline genetic testing for critically ill neonates

Current literature reports strong support among parents for genetic testing for ill neonates; yet, some parents decline this testing for unknown reasons. We aimed to document the proportion of parents who decline, describe their clinical and demographic characteristics, and categorize their rationales.

We reviewed medical records to collect and compare clinical and demographic information for patients whose parents consented to and declined recommended genetic testing. We also conducted brief interviews with parents who declined testing to discover their rationales.

Fifty-one of 247 parents (21%) declined recommended genetic testing. The most common reason for declining, cited by 83% of parents interviewed, was that the testing felt irrelevant to the problems they saw as most important. The second most common reason, cited by 63%, was worrying that the testing might yield unwanted information. Compared with parents who consented, those who declined were more likely to be making the decision for a child with a prenatally diagnosed condition (P = .022) or congenital anomaly (P = .029) and to have private health insurance (P = .031).

Parents who decline genetic testing for ill neonates provide an alternate appraisal of benefits and harms which should be incorporated into informing future parents considering these tests.