What's in a name? Issues to consider when naming Mendelian disorders.
What's in a name? Issues to consider when naming Mendelian disorders.
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DOI：
10.1038/s41436-020-0851-0
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发表时间：
2020-10
期刊：
影响因子：
--
通讯作者：
OMIM curators
中科院分区：
文献类型：
--
作者：
Rasmussen SA;Hamosh A;OMIM curators
遗传学领域的非凡进展 1 已导致数百种新的孟德尔疾病（此处定义为由单个基因的致病性变异引起的疾病）以及引起它们的基因的鉴定。在过去十年中，超过 2500 种新的单基因病症被添加到 OMIM (https://omim.org/)，这是美国国立卫生研究院 (NIH) 资助的遗传表型、基因及其之间关系的目录。新表型及其相关基因的鉴定通过改进诊断测试、复发风险估计、疾病管理以及在某些情况下的治疗，改变了孟德尔疾病患者的护理。然而，大量的新表型给该领域带来了挑战——如何命名这些新病症。疾病命名是医学的核心。卫生保健提供者、研究人员、患者及其家属之间的信息收集和交换需要通用术语。几个世纪以来，疾病的命名一直存在争议，从 15 世纪以来，梅毒有 400 多个名称 2 至今，关于由 SARS-CoV-2 病毒感染引起的 2019 年冠状病毒病 (COVID-19) 的命名存在争议。 3 Victor McKusick 在 20 世纪 60 年代开始了命名遗传疾病的核心任务，当时他创建了《人类孟德尔遗传》，这是当前 OMIM 目录的前身。 4 甚至在最近新表型激增之前，McKusick 就认识到命名孟德尔疾病的挑战，并指出在识别后不久命名表型尤其具有挑战性，因为随着更多患者的描述，关键特征可能会发生变化。因此，《人类孟德尔遗传》旨在为每个条目提供一个保持稳定的唯一 MIM 编号，允许在需要时对表型名称进行后续更改，并在条目中列出以前的名称，以方便搜索并限制该领域的混乱。
Extraordinary advances in the field of genetics 1 have led to the identification of hundreds of new Mendelian disorders (defined here as disorders caused by pathogenic variants in a single gene) and the genes that cause them. In the last ten years, over 2500 new single-gene conditions were added to OMIM (https://omim. org/), the National Institutes of Health (NIH)-funded catalog of inherited phenotypes, genes, and the relationships between them. Identification of new phenotypes and their associated genes has transformed the care of persons with Mendelian disorders through improved diagnostic testing, recurrence risk estimation, disease management, and in some cases, treatment. However, the huge number of new phenotypes has resulted in a challenge to the field—what to name these new conditions.Disease naming is central to medicine. A common terminology is necessary for the gathering and exchange of information among health-care providers, researchers, and patients and their families. For centuries, disease naming has been controversial, as illustrated by the more than 400 names for syphilis since the 15th century 2 to the present day controversy regarding the name of coronavirus disease 2019 (COVID-19) caused by infection with the SARS-CoV-2 virus. 3 Victor McKusick began the central task of naming genetic diseases in the 1960s when he created Mendelian Inheritance in Man, the precursor to the current OMIM catalog. 4 Even before the recent proliferation of new phenotypes, McKusick recognized challenges to naming Mendelian disorders, noting that naming a phenotype shortly after its recognition is particularly challenging because key features might change as more patients are described. Thus Mendelian Inheritance in Man was designed to provide each entry with a unique MIM number that remains stable, allowing for subsequent changes in phenotype names if needed, with the previous names being listed in the entry to ease searching and limit confusion in the field.
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