An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis

Infants in the neonatal intensive care unit (NICU) have historically been at the vanguard of clinical genetic testing applications due to the perinatal presentation of many rare genetic conditions and the clinical actionability of results. The emergence of rapid exome and genome sequencing (ES and GS) as a powerful and high-throughput technique for diagnosing Mendelian disease, in particular, has transformed the diagnosis of sick neonates and infants in this setting. However, as part of the responsible adoption of an emerging technology, the use of “next generation” or massively-parallel sequencing techniques that have ultimately paved the way for rapid genomic sequencing in the NICU has faced considerable ethical scrutiny. Among the most prominent of initial ethical concerns includes the psychological well-being of parents and families, particularly related to the impact of unexpected or uncertain findings.1,2 However, even as the tangible benefits of rapid exome and genome sequencing (ES, GS) have become apparent and the psychosocial harms minimal and/or unlikely, these initial criticisms have persisted.3 As rapid genomic sequencing becomes the standard of care in the NICU, these critiques present a barrier to the delivery of efficacious and cost-saving medical services that are in the best interests of critically ill neonates. Furthermore, the attention to the ethics of rapid genomic sequencing is exceptional when considering other complex diagnostic assessments that are routinely used in neonatology which have equal or greater propensity to produce uncertain findings, but which are not subject such ethical scrutiny. We therefore explore the ethical considerations of rapid ES/GS in the NICU, proposing a shift from a model of genetic exceptionalism towards contextualism, to facilitate the use of applied genomic medicine in the NICU.

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