Manchester Centre for Genomic, Manchester University NHS Foundation Trust, Manchester, UK
J Med Ethics. 2020 Aug;46(8):531-532. doi: 10.1136/medethics-2019-106043. Epub 2020 Jul 10.
Genetic testing has historically been performed in the context of chronic disease and cancer diagnostics. The timelines for these tests are typically measured in days or weeks, rather than in minutes. As such, the concept that genetic information might be generated and then used to alter management in the acute setting has, thus far, not been feasible. However, recent advances in genetic technologies have the potential to allow genetic information to be generated significantly quicker. The m.1555A>G genetic variant is present in one in 500 individuals and predisposes to profound hearing loss following the administration of aminoglycoside antibiotics. These antibiotics are used frequently in cases of neonatal sepsis and it is estimated that approximately 180 neonates in the UK are at risk of antibiotic induced hearing loss each year because of this genetic change. Knowledge of this variant in the acute setting would allow clinicians to prescribe alternative antibiotics. The Pharmacogenetics to Avoid Loss of Hearing study will implement a genetic point of care test (POCT) for the m.1555A>G variant within two major UK based neonatal intensive care units. This represents the first trial of a genetic POCT aimed at altering management in the acute setting. This round table discussion outlines the novel ethical issues faced in the development of this trial and the legal barriers to implementation. We ask five stakeholders to provide their opinions on this trial and their perspectives on the concept of genetic testing in the acute setting.Trial registration numberISRCTN-13704894.
遗传检测在慢性病和癌症诊断中有着悠久的历史。这些测试的时间通常以天或周为单位，而不是分钟。因此，遗传信息可能会被生成，并用于改变急性疾病的管理，这一概念在目前是不可行的。然而，遗传技术的最新进展有可能使遗传信息的生成速度大大加快。m.1555A>G 基因突变在每 500 个人中就有一个，并且在使用氨基糖苷类抗生素后易导致严重的听力损失。这些抗生素在新生儿败血症的情况下经常使用，据估计，由于这种遗传变化，英国每年约有 180 名新生儿有抗生素诱导性听力损失的风险。在急性情况下了解这种突变，将使临床医生能够开出替代抗生素。《避免听力损失的药物遗传学研究》将在英国的两个主要新生儿重症监护病房实施 m.1555A>G 突变的遗传即时检测（POCT）。这是首个旨在改变急性疾病管理的遗传 POCT 试验。本次圆桌讨论概述了该试验开发过程中面临的新的伦理问题以及实施的法律障碍。我们请五位利益相关者就该试验发表意见，并就遗传检测在急性环境中的概念发表看法。试验注册号 ISRCTN-13704894。
