Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Murdoch Children's Research Institute, Melbourne, Australia.
Pediatrics. 2019 Jan;143(Suppl 1):S14-S21. doi: 10.1542/peds.2018-1099D.
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 centers 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 article, we analyze 3 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 (ie, whether the substantial cost and diversion of resources to deliver rapid genomic testing in the NICU can be justified).
NICU 是基因组医学的优先实施领域。预计 NICU 中的快速基因组测试将成为基因组医学的“关键应用”，因为它带来了如此明显的益处，从而推动了更广泛地采用基因组学。来自全球多个中心的研究现已证明，在这种情况下，快速基因组测序具有临床实用性和成本效益，为广泛实施铺平了道路。然而，为预测 NICU 中未来的损伤而引入这种潜在强大的工具也带来了深刻的伦理挑战。制定良好实践模式，纳入对伦理问题的识别、探索和分析，对于成功实施至关重要。在本文中，我们分析了以下 3 个问题：（1）在压力大、情绪激动的环境中获得对复杂测试的同意的价值和意义；（2）快速诊断对亲子关系的影响及其对医疗和家庭决策的影响，特别是在治疗限制方面；（3）分配公正（即，在 NICU 中提供快速基因组测试所需的大量成本和资源转移是否合理）。
