Error in the Byline

Abstract

such as having developed chorioamnionitis or going into labor prematurely. Although this would identify a proportion of infants who need aminoglycoside therapy, it would also miss many infants who need antibiotic therapy for other indications. Conversely, many mothers whose infants did not go on to receive aminoglycosides would be tested for the variant, impacting the cost-effectiveness of this intervention. Furthermore, in many scenarios in which an admission to a neonatal intensive care unit is anticipated, the m.1555A>G result would still be required rapidly. If a mother entered labor prematurely, a standard test time of several days remains unacceptable. As such, rapid genotyping would still be required.The second suggestion is that specimens from expectant mothers could be stored prospectively, and testing performed as required. As well as being subject to the issues of cost and speed outlined above, this approach would also be enormously complex. In 2019, there were 3 747 540 births in the US. 3 Storing, accessing, and testing even a small proportion of these samples would be a major logistical challenge, the costs of which would dwarf those required for deployment of a rapid POCT in neonatal intensive care units.Finally, the authors identify that many direct-to-consumer genetic tests include m.1555A>G. If a mother had such a test prior to delivery, then this could be used to inform antibiotic selection if their infant were admitted to the neonatal intensive care unit. Again, this is reasonable in theory, but in addition to concerns raised by the authors regarding analytical validity, implementation would be extremely challenging. In this hypothetical scenario, the infant and possibly the mother are acutely unwell. The mother cannot, and should not, be expected to inform clinicians of her direct-to-consumer genetic test results. 4 As such, there would need to be an informatic solution that could capture the mother's m.1555A>G result during pregnancy and transfer that to the infant's new electronic health record immediately after birth. Even the most advanced pharmacogenetic programs do not yet have this level of functionality.The neonatal intensive care unit is an intensely challenging setting in which to implement pharmacogenetic testing. As genetic testing becomes ubiquitous, harnessing parental genetic information may provide a parallel approach to m.1555A>G genotyping. However, this is not the current reality and rapid POCT genotyping is the only approach that could be reliably deployed at present.