Genetic testing to identify genetic syndromes and copy number variants (CNVs) via whole genome platforms such as chromosome microarray (CMA) or exome sequencing (ES) is routinely performed clinically, and is considered by a variety of organizations and societies to be a “first-tier” test for individuals with developmental delay (DD), intellectual disability (ID), or autism spectrum disorder (ASD). However, in the context of schizophrenia, though CNVs can have a large effect on risk, genetic testing is not typically a part of routine clinical care, and no clinical practice guidelines recommend testing. This raises the question of whether CNV testing should be similarly performed for individuals with schizophrenia. Here we consider this proposition in light of the history of genetic testing for ID/DD and ASD, and through the application of an ethical analysis designed to enable robust, accountable and justifiable decision-making. Using a systematic framework and application of relevant bioethical principles (beneficence, non-maleficence, autonomy, and justice), our examination highlights that while CNV testing for the indication of ID has considerable benefits, there is currently insufficient evidence to suggest that overall, the potential harms are outweighed by the potential benefits of CNV testing for the sole indications of schizophrenia or ASD. However, although the application of CNV tests for children with ASD or schizophrenia without ID/DD is, strictly speaking, off-label use, there may be clinical utility and benefits substantive enough to outweigh the harms. Research is needed to clarify the harms and benefits of testing in pediatric and adult contexts. Given that genetic counseling has demonstrated benefits for schizophrenia, and has the potential to mitigate many of the potential harms from genetic testing, any decisions to implement genetic testing for schizophrenia should involve high-quality evidence-based genetic counseling.

通过染色体微阵列 (CMA) 或外显子组测序 (ES) 等全基因组平台识别遗传综合征和拷贝数变异 (CNV) 的基因检测在临床上常规进行，并被各种组织和协会视为“首创”等级”测试针对发育迟缓 (DD)、智力障碍 (ID) 或自闭症谱系障碍 (ASD) 的个体。然而，在精神分裂症的背景下，尽管 CNV 对风险有很大影响，但基因检测通常不是常规临床护理的一部分，也没有临床实践指南推荐检测。这就提出了一个问题，CNV 测试是否应该对精神分裂症患者进行类似的操作。在这里，我们根据 ID/DD 和 ASD 基因检测的历史，并通过应用旨在实现稳健、负责任和合理决策的伦理分析来考虑这一提议。使用系统框架和相关生物伦理原则（善意、非恶意、自主和正义）的应用，我们的研究强调，虽然 CNV 检测对 ID 的适应症有相当大的好处，但目前没有足够的证据表明，总体而言， CNV 检测对精神分裂症或 ASD 的唯一适应症的潜在益处超过了潜在的危害。然而，尽管 CNV 测试对ASD 或精神分裂症儿童的应用没有严格来说，ID/DD 是标签外使用，可能有临床实用性和实质性益处，足以超过危害。需要进行研究以阐明在儿科和成人环境中进行测试的危害和益处。鉴于遗传咨询已证明对精神分裂症有益，并且有可能减轻基因检测的许多潜在危害，任何对精神分裂症实施基因检测的决定都应涉及高质量的循证遗传咨询。