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Ethical questions concerning newborn genetic screening.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-08-10 , DOI: 10.1111/cge.13828 Montserrat Esquerda 1 , Francesc Palau 2, 3 , David Lorenzo 4 , Francisco Jose Cambra 5 , Margarita Bofarull 6 , Victoria Cusi 6 , Grup Interdisciplinar En Bioetica 6
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-08-10 , DOI: 10.1111/cge.13828 Montserrat Esquerda 1 , Francesc Palau 2, 3 , David Lorenzo 4 , Francisco Jose Cambra 5 , Margarita Bofarull 6 , Victoria Cusi 6 , Grup Interdisciplinar En Bioetica 6
Affiliation
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Newborn screening is a public health strategy used to identify certain diseases in the first days of life and, therefore, facilitate early treatment before the onset of symptoms. The decision of which diseases should be included in a screening goes beyond the medical perspective, including reasons for public health and health economics. There are a number of characteristics to include a disease in the screening, such as that the disorder must be a significant health problem, the natural history of the disease must be well known, a feasible and accurate test must be available, there must be a treatment that is most effective when applied before the onset of clinical symptoms and a health system must be in place that is capable of performing the procedure and subsequent monitoring. Currently, newborn screening programs are currently based on the use of biochemical markers that detect metabolites, hormones or proteins, but recently, the availability of new technology has allowed the possibility of a genetic screening. In addition to technical problems, the possibility of neonatal screening also presents a number of ethical problems. We identified and discussed six areas of particular concern: type of illness, overdiagnosis or overtreatment, information management and informed consent, data confidentiality and protection, justice and legal regulation.
中文翻译：
关于新生儿基因筛查的伦理问题。
新生儿筛查是一种公共卫生策略，用于在生命的最初几天识别某些疾病，因此有助于在症状出现之前进行早期治疗。哪些疾病应该纳入筛查的决定超出了医学角度，包括公共卫生和卫生经济学的原因。将疾病纳入筛查有许多特征，例如该疾病必须是严重的健康问题，必须熟知该疾病的自然史，必须有可行且准确的测试，必须有在临床症状出现之前进行最有效的治疗，并且必须建立能够执行该程序和随后监测的卫生系统。目前，新生儿筛查计划目前基于使用检测代谢物、激素或蛋白质的生化标志物，但最近，新技术的出现使基因筛查成为可能。除了技术问题，新生儿筛查的可能性也带来了一些伦理问题。我们确定并讨论了六个特别关注的领域：疾病类型、过度诊断或过度治疗、信息管理和知情同意、数据保密和保护、司法和法律监管。
更新日期：2020-08-10
中文翻译：
关于新生儿基因筛查的伦理问题。
新生儿筛查是一种公共卫生策略，用于在生命的最初几天识别某些疾病，因此有助于在症状出现之前进行早期治疗。哪些疾病应该纳入筛查的决定超出了医学角度，包括公共卫生和卫生经济学的原因。将疾病纳入筛查有许多特征，例如该疾病必须是严重的健康问题，必须熟知该疾病的自然史，必须有可行且准确的测试，必须有在临床症状出现之前进行最有效的治疗，并且必须建立能够执行该程序和随后监测的卫生系统。目前，新生儿筛查计划目前基于使用检测代谢物、激素或蛋白质的生化标志物，但最近，新技术的出现使基因筛查成为可能。除了技术问题，新生儿筛查的可能性也带来了一些伦理问题。我们确定并讨论了六个特别关注的领域：疾病类型、过度诊断或过度治疗、信息管理和知情同意、数据保密和保护、司法和法律监管。
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