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首页> 美国卫生研究院文献>Medicina >Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?
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Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?

机译：多因素稀有疾病：可以不确定性分析为寻找风险因素和病因athogeneses来带来附加值吗？

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Uncertainty analysis is the process of identifying limitations in knowledge and evaluating their implications for scientific conclusions. Uncertainty analysis is a stable component of risk assessment and is increasingly used in decision making on complex health issues. Uncertainties should be identified in a structured way and prioritized according to their likely impact on the outcome of scientific conclusions. Uncertainty is inherent to the rare diseases (RD) area, where research and healthcare have to cope with knowledge gaps due to the rarity of the conditions; yet a systematic approach toward uncertainties is not usually undertaken. The uncertainty issue is particularly relevant to multifactorial RD, whose etiopathogenesis involves environmental factors and genetic predisposition. Three case studies are presented: the newly recognized acute multisystem inflammatory syndrome in children and adolescents associated with SARS-CoV-2 infection; the assessment of risk factors for neural tube defects; and the genotype–phenotype correlation in familial Mediterranean fever. Each case study proposes the initial identification of the main epistemic and sampling uncertainties and their impacts. Uncertainty analysis in RD may present aspects similar to those encountered when conducting risk assessment in data-poor scenarios; therefore, approaches such as expert knowledge elicitation may be considered. The RD community has a main strength in managing uncertainty, as it proactively develops stakeholder involvement, data sharing and open science. The open science approaches can be profitably integrated by structured uncertainty analysis, especially when dealing with multifactorial RD involving environmental and genetic risk factors.
机译：不确定性分析是识别知识局限性的过程，并评估其对科学结论的影响。不确定性分析是风险评估的稳定成分，越来越多地用于复杂的健康问题的决策。应以结构化的方式确定不确定性，并根据其对科学结论结果的影响，优先考虑。不确定性是罕见的疾病（RD）区域固有，其中研究和医疗保健必须应对由于条件的罕见而应对知识差距;然而，通常不采取系统的不确定因素。不确定性问题与多因素RD特别相关，其精神病发生涉及环境因素和遗传易感性。提出了三种案例研究：与SARS-COV-2感染相关的儿童和青少年的新公认的急性多系统炎症综合征;神经管缺陷风险因素评估;和家族性地中海发热中的基因型 - 表型相关性。每项案例研究都提出了初步识别主要的认知和采样的不确定性及其影响。 RD中的不确定性分析可能存在与在数据不佳方案中进行风险评估时遇到的方面的方面;因此，可以考虑专家知识诱因等方法。 RD社区在管理不确定性方面具有主要优势，因为它主动发展利益相关者参与，数据共享和开放科学。开放的科学方法可以通过结构性不确定性分析来盈利地集成，特别是在处理涉及环境和遗传危险因素的多因素RD时。

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