Department of Pediatrics, Santa Maria Delle Croci Hospital, Viale Randi 5, 48121, Ravenna, Italy.
Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Palermo, Italy.
Ital J Pediatr. 2022 Dec 26;48(1):202. doi: 10.1186/s13052-022-01391-7.
The spread of knowledge on the important implications of a diagnosis of genetic disease does not correspond to a sharing of the knowledge and equal rights of children.
It is estimated that about 5% of newborns may have a rare disease that in some cases, if diagnosed early, could have specific treatments that may be able to modify the natural history of the disease. However, in most countries the diagnosis during the first hours of life is limited to a few diseases, due to the high costs and time required for genetic investigations with classical methods. Recently, experimental projects to subject all newborns to a complete DNA analysis, with Next Generation Sequencing techniques, to detect any genetic pathologies as early as possible, have been reported in some countries. The late diagnosis of some genetic diseases that have treatment plans, such as spinal muscular atrophy, can be a serious damage, for anyone who has seen and accompanied the life of a child with this disease and his/her family, before and after, the recent availability of therapies which, if started very early, can lead to an almost normal life. Rapid sequencing and genetic diagnosis are a crucial part of directing inpatient management and this resource should be accessible not only to academic medical centers but also in community settings.
It is time for a profound reflection that places in Italy, as in other countries, the use of genetic tests in neonatal and pediatric age based on principles of evidence, ethics, and democracy and on clear national guidelines, which also consider organizational aspects.
传播有关遗传疾病诊断重要意义的知识，并不等同于分享知识和平等的儿童权利。
据估计，约有 5%的新生儿可能患有罕见疾病，在某些情况下，如果早期诊断，可能会有特定的治疗方法，能够改变疾病的自然进程。然而，在大多数国家，由于遗传检测的高成本和时间要求，在生命最初几个小时的诊断仅限于少数几种疾病。最近，一些国家已经报告了一些实验项目，即对所有新生儿进行全面的 DNA 分析，采用下一代测序技术，尽早发现任何遗传病理学。对于任何曾经见过并陪伴患有这种疾病的孩子及其家庭度过生命的人来说，一些有治疗方案的遗传疾病的晚期诊断（如脊髓性肌萎缩症）可能会造成严重的损害，在最近的治疗方法可用之前，如果能非常早地开始治疗，几乎可以过上正常的生活。快速测序和基因诊断是指导住院管理的关键部分，这种资源不仅应在学术医疗中心获得，也应在社区环境中获得。
现在是时候进行深刻反思了，意大利和其他国家一样，应基于证据、伦理和民主原则，并根据明确的国家指南，包括组织方面，来使用新生儿和儿科年龄的基因检测。
