Faculty of Medicine and Institute of Clinical and Preventive Medicine, University of Latvia, Jelgavas Str.3, Riga, LV-1004, Latvia.
Discipline of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
Hum Genomics. 2021 Mar 12;15(1):16. doi: 10.1186/s40246-021-00317-4.
Genomic research on neurodevelopmental disorders (NDDs), particularly involving minors, combines and amplifies existing research ethics issues for biomedical research. We performed a review of the literature on the ethical issues associated with genomic research involving children affected by NDDs as an aid to researchers to better anticipate and address ethical concerns.
Qualitative thematic analysis of the included articles revealed themes in three main areas: research design and ethics review, inclusion of research participants, and communication of research results. Ethical issues known to be associated with genomic research in general, such as privacy risks and informed consent/assent, seem especially pressing for NDD participants because of their potentially decreased cognitive abilities, increased vulnerability, and stigma associated with mental health problems. Additionally, there are informational risks: learning genetic information about NDD may have psychological and social impact, not only for the research participant but also for family members. However, there are potential benefits associated with research participation, too: by enrolling in research, the participants may access genetic testing and thus increase their chances of receiving a (genetic) diagnosis for their neurodevelopmental symptoms, prognostic or predictive information about disease progression or the risk of concurrent future disorders. Based on the results of our review, we developed an ethics checklist for genomic research involving children affected by NDDs.
In setting up and designing genomic research efforts in NDD, researchers should partner with communities of persons with NDDs. Particular attention should be paid to preventing disproportional burdens of research participation of children with NDDs and their siblings, parents and other family members. Researchers should carefully tailor the information and informed consent procedures to avoid therapeutic and diagnostic misconception in NDD research. To better anticipate and address ethical issues in specific NDD studies, we suggest researchers to use the ethics checklist for genomic research involving children affected by NDDs presented in this paper.
神经发育障碍（NDD）的基因组研究，特别是涉及未成年人的研究，结合并放大了生物医学研究中现有的研究伦理问题。我们对与受 NDD 影响的儿童相关的基因组研究相关的伦理问题进行了文献回顾，以帮助研究人员更好地预测和解决伦理问题。
对纳入文章的定性主题分析揭示了三个主要领域的主题：研究设计和伦理审查、研究参与者的纳入以及研究结果的交流。与一般基因组研究相关的已知伦理问题，如隐私风险和知情同意/同意，由于参与者认知能力下降、易受伤害以及与心理健康问题相关的耻辱感，似乎对 NDD 参与者尤其紧迫。此外，还有信息风险：了解 NDD 的遗传信息可能会对心理和社会产生影响，不仅对研究参与者，而且对家庭成员也是如此。然而，研究参与也有潜在的好处：通过参与研究，参与者可以接受基因测试，从而增加他们获得神经发育症状（遗传）诊断、疾病进展或未来并发疾病风险的预后或预测信息的机会。基于我们的审查结果，我们为受 NDD 影响的儿童的基因组研究制定了一份伦理检查表。
在设立和设计 NDD 的基因组研究时，研究人员应与 NDD 患者社区合作。特别要注意防止 NDD 儿童及其兄弟姐妹、父母和其他家庭成员参与研究的不成比例负担。研究人员应仔细调整信息和知情同意程序，以避免在 NDD 研究中出现治疗和诊断误解。为了更好地预测和解决特定 NDD 研究中的伦理问题，我们建议研究人员使用本文介绍的受 NDD 影响的儿童基因组研究伦理检查表。
