Ethics and the Genome in the NICU: Stewardship from the Bedside Nurse

Abstract

Medical technology has rapidly decreased the time and cost required to sequence, visualize, and analyze an individual's genome since the Human Genome Project (HGP) ended in April of 2003. The resulting real-time implementation and expanded use of genetic testing in clinical practice, especially in the NICU, has often left ethicists playing catch-up and providing reactive guidance rather than proactive guidance, and nurses struggling to understand their role in resolving associated legal, ethical, and social concerns. This article provides proactive guidance concerning some of the common ethical issues that are manifest in the application of genomics in the NICU as well as practical resources for navigating these conversations with parents and families. Clinical scenarios illustrate key points of consideration for NICU nurses engaged with challenging issues related to genomics in the NICU.

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

“…Pre-test genetic counselling was discussed as part of the informed consent process by multiple authors regardless of country and indication for testing. 11,13,24,26,27,29,34,46,96,[119][120][121]159 Informed consent describes the process of disclosing necessary information about the overall expectations of the genetic testing process prior to obtaining consent to proceed with the genetic testing. In NICUs and PICUs, obtaining informed consent usually happens between the caregivers and the geneticists or genetic counsellors.…”

“…Studies mentioning pre-test genetic counselling stressed the importance of ensuring caregivers were aware of the possibility of variants of unknown significance, 31,34,135 incidental findings (findings unrelated to the indication for testing), 31,32,34,46,119,135 costs, 34 and turnaround time 34 of testing. Pre-test genetic counselling for GWS also involves obtaining a detailed family history, a discussion of these complex issues, the limitations of the test, implications for other family members, privacy and insurance considerations.…”

“…12 During the pre-test counselling process, families demonstrated the desire to be informed that testing may not identify the cause of the disorder as well as the chance of identifying a life-limiting diagnosis. 8 Multiple studies identified the role of genetic counsellors in the informed consent process prior to ordering genetic testing 2,13,24,26,29,34,46,[119][120][121]159 while providing emotional support to help with caregivers' distress through disclosing all necessary information (i.e., possible incidental findings, inheritance, recurrence risk, etc.) that can impact the family.…”

“…188 The intensive care environment is stressful and impacts caregivers' decision-making. 16,18,28,39,44,119,124,144,166 Caregivers in the NICU experience greater feelings of overwhelm compared to caregivers with older, stable children considering GWS. 44 Additionally, caregivers with critically ill infants in the NICU are more likely to opt out of receiving incidental findings for themselves from rapid GWS.…”

“…44 It was identified by many authors that genetic counsellors can be helpful with respect to the challenges caregivers experience brought on by the genetic testing process in ICUs. 16,18,21,28,39,44,119,124,144,166 There were differences in the genetic counselling support needed for families and healthcare providers in NICUs as compared to PICUs.…”