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首页> 外文期刊>Journal of Clinical Bioinformatics >Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
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Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period

机译：转诊实验室的囊性纤维化测试：六年期间的结果和教训

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Background The recent introduction of high throughput sequencing technologies into clinical genetics has made it practical to simultaneously sequence many genes. In contrast, previous technologies limited sequencing based tests to only a handful of genes. While the ability to more accurately diagnose inherited diseases is a great benefit it introduces specific challenges. Interpretation of missense mutations continues to be challenging and the number of variants of uncertain significance continues to grow. Results We leveraged the data available at ARUP Laboratories, a major reference laboratory, for the CFTR gene to explore specific challenges related to variant interpretation, including a focus on understanding ethnic-specific variants and an evaluation of existing databases for clinical interpretation of variants. In this study we analyzed 555 patients representing eight different ethnic groups. We observed 184 different variants, most of which were ethnic group specific. Eighty-five percent of these variants were present in the Cystic Fibrosis Mutation Database, whereas the Human Mutation Database and dbSNP/1000 Genomes had far fewer of the observed variants. Finally, 21 of the variants were novel and we report these variants and their clinical classifications. Conclusions Based on our analyses of data from six years of CFTR testing at ARUP Laboratories a more comprehensive, clinical grade database is needed for the accurate interpretation of observed variants. Furthermore, there is a particular need for more and better information regarding variants from individuals of non-Caucasian ethnicity.
机译：背景技术最近将高通量测序技术引入临床遗传学使得同时测序许多基因变得可行。相比之下，以前的技术将基于测序的测试仅限于少数基因。尽管更准确地诊断遗传疾病的能力是一个巨大的好处，但它带来了特定的挑战。错义突变的解释继续具有挑战性，不确定性显着的变体数目继续增加。结果我们利用了主要参考实验室ARUP实验室（可用于CFTR基因）的数据来探索与变异解释相关的具体挑战，包括着重于了解种族特定变异以及评估现有的数据库以对变异进行临床解释。在这项研究中，我们分析了代表八个不同种族的555名患者。我们观察到184个不同的变体，其中大多数是特定于种族的。这些变体中的百分之八十五存在于囊性纤维化突变数据库中，而人类突变数据库和dbSNP / 1000基因组中的变体则少得多。最后，有21个变体是新颖的，我们报告了这些变体及其临床分类。结论根据我们对ARUP实验室六年CFTR测试数据的分析，需要一个更全面的临床级数据库来准确解释观察到的变异。此外，特别需要关于来自非高加索族个体的变体的更多和更好的信息。

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