Rapid Challenges: Ethics and Genomic Neonatal Intensive Care

Abstract

Neonatal intensive care units (NICUs) are a priority implementation area for genomic medicine. Rapid genomic testing in the NICU is expected to be genomic medicine’s ‘critical application’, providing such clear benefits that it drives the adoption of genomics more broadly. Studies from multiple centres worldwide have now demonstrated the clinical utility and cost-effectiveness of rapid genomic sequencing in this setting, paving the way for widespread implementation. However, the introduction of this potentially powerful tool for predicting future impairment in the NICU also raises profound ethical challenges. Developing models of good practice that incorporate the identification, exploration and analysis of ethical issues will be critical for successful implementation. In this paper, we analyse three such issues: 1) the value and meaning of gaining consent to a complex test in a stressful, emotionally-charged environment; 2) the effect of rapid diagnosis on parent-child bonding and its implications for medical and family decisions, particularly in relation to treatment limitation; and 3) distributive justice - whether the substantial cost and diversion of resources to deliver rapid genomic testing in the NICU can be justified.

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

“…In addition, we found that concerns that RGS could reveal a devastating diagnosis and that the possibility of multiple different diagnoses was burdensome, with parents worrying about conditions that did not turn out to be the diagnosis. Professionals were concerned that RGS results could shatter parent’s hopes and negatively impact on bonding with neonates, an issue discussed in the ethics literature [ 24 , 25 ]. Ongoing anxiety and frustration for parents when there are uncertain findings or no diagnosis were also highlighted.…”

“…ICUs are unquestionably a difficult environment for parents who have increased stress levels, anxiety, anger and depression, compared with those with children on other wards [ 26 , 27 ]. Supporting informed decision making has been highlighted previously as a key challenge for offering RGS in acute care settings [ 12 , 24 ]. We found that the vulnerability of parents in this setting was clear and parents spoke about doing anything to help their child.…”

Application of Next-Generation Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units: Results of a Multicenter Study in China

“…Understanding the genetic causes of the affected infants could help identify and improve potential therapeutic options (Fernandez-Marmiesse et al, 2018). Therefore, the need for genetic diagnoses of critically ill infants is paramount for the effective management of these patients (Tan et al, 2017;Gyngell et al, 2019). Furthermore, a timely diagnosis provides actionable information for a medical decision-making in the NICU (Willig et al, 2015;Wilkinson et al, 2016) and for their parents of reproductive ages (Vandersluis et al, 2020).…”

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

“…18 Applied ethical and legal research is undertaken across a variety of aspects, including genomic data sharing, ownership of genetic information, clinical and research consent, insurance discrimination, and rapid genomic testing in acute pediatrics. 19 The Genomics Workforce and Education program (Program 4) provides evidence to inform the education and training of those whose professional roles will be impacted by clinical genomics. Broadly, this program is mapping the current landscape of education delivery in genomics, identifying the genomic education needs and preferences of genetic and non-genetic health professionals, [20][21][22] and developing tools to support the development and evaluation of effective education programs.…”