Department of Congenital Heart Surgery, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
Biopreserv Biobank. 2021 Apr;19(2):119-123. doi: 10.1089/bio.2020.0110. Epub 2020 Dec 9.
Diseases that manifest themselves in the pediatric age group frequently have a more diverse spectrum of abnormalities and a greater rarity than diseases that are primarily seen in adults. The complexity and the relatively small populations with specific diseases are factors that have hindered progress in the treatment of pediatric disorders. Personalized medical therapies that are specifically tailored for individuals with unusual or unique problems have great potential to assist in overcoming these factors that have been a bottleneck to pediatric medical success. Personalization of therapies will necessarily be data driven and will require delineation of the proteomic, genomic, epigenomic, and immune characteristics of patients in comparison to the general population. It follows that there is a need to provide researchers with accessible high-quality pediatric tissue collections to facilitate the acquisition of the molecular information needed to support personalized medicine. Because of the unusual nature of many pediatric diseases, sample pools from individual institutions are often too small to adequately power definitive studies. Thus, etiological and translational research in this area are increasingly relying on biobanking networks to provide investigators with adequate numbers of tissue samples. Several pediatric biobanking networks have been formed, which are aimed at increasing the power of research studies and desired pools of high-quality samples. However, despite the concerted efforts, these multicenter networks and collaborations have met with mixed outcomes owing to increasing complexities and heterogeneity in the biobanking arena. While there have been challenges and roadblocks, there also have been some positive outcomes that have had paradigm impacts on diagnosis, study, and treatment of specific diseases. This article highlights the need for establishing pediatric biobanks, how current efforts in pediatric biobanking are influencing the pediatric research landscape, and attempts to identify practical impediments that continue to hamper advancements for the future.
儿科疾病表现出的异常和罕见情况比成人主要疾病更为多样化。疾病的复杂性和相对较小的特定疾病人群是阻碍儿科疾病治疗进展的因素。针对具有异常或独特问题的个体量身定制的个性化医疗疗法具有很大的潜力,可以帮助克服这些一直是儿科医学成功瓶颈的因素。治疗方法的个性化必然是数据驱动的,并且需要与一般人群相比,明确患者的蛋白质组学、基因组学、表观基因组学和免疫特征。因此,有必要为研究人员提供易于获取的高质量儿科组织收集,以促进获得支持个性化医学所需的分子信息。由于许多儿科疾病的特殊性,单个机构的样本池通常太小,无法充分进行明确的研究。因此,该领域的病因学和转化研究越来越依赖生物库网络为研究人员提供足够数量的组织样本。已经形成了几个儿科生物库网络,旨在提高研究的力量和所需的高质量样本库。然而,尽管做出了协调一致的努力,但由于生物库领域的复杂性和异质性不断增加,这些多中心网络和合作的结果喜忧参半。尽管存在挑战和障碍,但也有一些积极的结果对特定疾病的诊断、研究和治疗产生了范式影响。本文强调了建立儿科生物库的必要性,探讨了儿科生物库当前的努力如何影响儿科研究领域,并试图确定继续阻碍未来发展的实际障碍。