Semin Perinatol. 2025 Jun 14:152110. doi: 10.1016/j.semperi.2025.152110. Online ahead of print.
ABSTRACT
Exome or genome sequencing (ES/GS) is increasingly used as the first-line test for postnatal diagnosis of rare genetic conditions, especially in intensive care units (ICUs). Early concerns regarding the use of broad genetic testing centered on the potential for psychosocial harm, particularly related to unexpected or uncertain findings. As the usage of ES/GS has grown and evolved, the ethical concerns initially raised have not borne out in empirical measurement of patient and family experience. We therefore review the use of diagnostic genomic sequencing in the neonatal intensive care unit with comparison to other standard diagnostic tests that have not elicited similar ethical questioning. We frame this landscape within the concept of genetic contextualism rather than exceptionalism and suggest that this approach may lead to a more productive future for applied genomic medicine, especially for sick neonates and infants in the NICU.
PMID:40518318 | DOI:10.1016/j.semperi.2025.152110
