Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
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DOI：
10.1002/mgg3.1397
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发表时间：
2020-10
影响因子：
2
通讯作者：
Shashi V
中科院分区：
文献类型：
--
作者：
Cope H;Spillmann R;Rosenfeld JA;Brokamp E;Signer R;Schoch K;Glanton E;Sullivan JA;Macnamara E;Lincoln S;Golden-Grant K;Undiagnosed Diseases Network;Orengo JP;Clark G;Burrage LC;Posey JE;Punetha J;Robertson A;Cogan J;Phillips JA 3rd;Martinez-Agosto J;Shashi V
未诊断疾病网络（UDN）内的资源，如基因组测序（GS）和模式生物有助于诊断和识别新的疾病基因，但目前临床提供者难以获得。虽然这些资源在许多情况下确实有助于诊断，但它们并不总是达到诊断分辨率所必需的。UDN的经验是，参与者也可以通过在临床环境中随时可用的方法和资源的周到和定制的应用程序来接受诊断。UDN遗传咨询和检测工作组收集了一些案例，说明了临床上可用的方法如何导致诊断。这些案例被分为三个主题：表型考虑、基因检测的选择以及评估外显子组/GS变体和数据。我们介绍了12名参与者，说明了临床实践，如表型驱动的基因组研究，考虑变量表达，选择相关组织进行测试，利用更新的测试平台，以及识别替代转录命名法导致诊断。这些例子表明，当诊断是难以捉摸的，一个迭代的患者特定的方法，利用评估选项提供给临床提供者可以解决一部分的情况。然而，这确实需要增加提供者的时间承诺，这在目前的基因组学实践中是一个特别的挑战。
Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many cases, they are not always necessary to reach diagnostic resolution. The UDN experience has been that participants can also receive diagnoses through the thoughtful and customized application of approaches and resources that are readily available in clinical settings. The UDN Genetic Counseling and Testing Working Group collected case vignettes that illustrated how clinically available methods resulted in diagnoses. The case vignettes were classified into three themes; phenotypic considerations, selection of genetic testing, and evaluating exome/GS variants and data. We present 12 participants that illustrate how clinical practices such as phenotype‐driven genomic investigations, consideration of variable expressivity, selecting the relevant tissue of interest for testing, utilizing updated testing platforms, and recognition of alternate transcript nomenclature resulted in diagnoses. These examples demonstrate that when a diagnosis is elusive, an iterative patient‐specific approach utilizing assessment options available to clinical providers may solve a portion of cases. However, this does require increased provider time commitment, a particular challenge in the current practice of genomics.
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DOI：
10.1097/gim.0b013e3181f8baad
发表时间：
2010-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Manning M;Hudgins L;Professional Practice and Guidelines Committee
通讯作者：
Professional Practice and Guidelines Committee
影响因子：
5.8
作者：
McLaren, William;Pritchard, Bethan;Cunningham, Fiona
通讯作者：
Cunningham, Fiona
影响因子：
2
作者：
Carson, Jason C.;Hoffner, Lori;Surti, Urvashi
通讯作者：
Surti, Urvashi
影响因子：
8.8
作者：
Fennell, Andrew Paul;Hunter, Matthew Frank;Corboy, Gregory Philip
通讯作者：
Corboy, Gregory Philip
影响因子：
2.6
作者：
Kärppä M;Kytövuori L;Saari M;Majamaa K
通讯作者：
Majamaa K