Newborn screening is an incredibly useful tool for the early identification of many metabolic disorders, including fatty acid oxidation (FAO) disorders. In many cases, molecular tests are necessary to reach a final diagnosis, highlighting the need for a thorough evaluation of genes implicated in FAO disorders. Using the ClinGen (Clinical Genome Resource) clinical validity framework, thirty genes were analyzed for the strength of evidence supporting their association with FAO disorders. Evidence was gathered from the literature by biocurators and presented to disease experts for review in order to assign a clinical validity classification of Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Reported Evidence. Of the gene-disease relationships evaluated, 22/30 were classified as Definitive, three as Moderate, one as Limited, three as No Reported Evidence and one as Disputed. Gene-disease relationships with a Limited, Disputed, and No Reported Evidence were found on two, six, and up to four panels out of 30 FAO disorder-specific panels, respectively, in the National Institute of Health Genetic Testing Registry, while over 70% of the genes on panels are definitively associated with an FAO disorder. These results highlight the need to systematically assess the clinical relevance of genes implicated in fatty acid oxidation disorders in order to improve the interpretation of genetic testing results and diagnosis of patients with these disorders.

中文翻译：

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使用ClinGen临床有效性框架评估与脂肪酸氧化失调有关的基因的证据强度。

新生儿筛查是早期识别许多代谢性疾病（包括脂肪酸氧化（FAO）疾病）的不可思议的有用工具。在许多情况下，必须进行分子检测才能做出最终诊断，这突出表明需要对与粮农组织疾病有关的基因进行全面评估。使用ClinGen（临床基因组资源）临床有效性框架，分析了30个基因的证据强度，以支持它们与FAO疾病的关联。证据是由生物管理者从文献中收集的，并提供给疾病专家进行审查，以便确定确定的，强的，中度的，有限的，有争议的，反驳的或未报告的证据的临床有效性分类。在评估的基因-疾病关系中，将22/30归为权威性，三归为中度，一归为有限，三项为“无举报证据”，另一项为“有争议”。美国国立卫生研究院基因检测中心的30个粮农组织特定疾病小组中，分别有2个，6个和多达4个小组发现了与证据有限，有争议和没有报告证据的基因疾病关系，而超过70个小组专家组中肯定有％的基因与FAO疾病有关。这些结果强调需要系统地评估与脂肪酸氧化失调有关的基因的临床相关性，以改善基因检测结果的解释和对这些失调患者的诊断。在美国国立卫生研究院基因测试注册处进行的研究中，面板上超过70％的基因确定地与粮农组织疾病有关。这些结果强调需要系统地评估与脂肪酸氧化失调有关的基因的临床相关性，以改善基因检测结果的解释和对这些失调患者的诊断。在美国国立卫生研究院基因测试注册处进行的研究中，面板上超过70％的基因确定地与粮农组织疾病有关。这些结果强调需要系统地评估与脂肪酸氧化失调有关的基因的临床相关性，以改善基因检测结果的解释和对这些失调患者的诊断。