Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.
Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.
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DOI：
10.1007/s10897-016-9993-2
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发表时间：
2016-12
影响因子：
1.9
通讯作者：
Shirts, Brian H.
中科院分区：
文献类型：
--
作者：
Garrett, Lauren T.;Hickman, Nathan;Jacobson, Angela;Bennett, Robin L.;Amendola, Laura M.;Rosenthal, Elisabeth A.;Shirts, Brian H.
关键词：
多基因癌症小组经常识别不确定临床意义的变异（VUS），这对卫生保健提供者在管理患者癌症风险方面构成挑战。家族分离分析可以产生强有力的数据来重新分类VUS（无论是良性还是致病性）。然而，协调这些研究的财政和人力资源是有限的。在非正式评估中，我们发现变异分类的家庭研究是由大多数提供遗传性癌症小组测试的临床遗传学实验室完成的。不同实验室的家庭研究过程有很大不同。一个近乎普遍的限制是，家庭成员通常太少，无法进行信息丰富的共分离分析。一个独特的和潜在的资源节约的方法是让患者和他们的家庭参与扩大他们自己的谱系分离分析他们的VUS。我们描述了一个新的公共教育工具（FindMyVariant.org），旨在告知患者和遗传咨询师使用家族分离提高变异分类概率的策略。虽然这个网络工具被设计成对任何基因都有用，但该项目主要关注的是VUS在癌症风险基因中的返回。FindMyVariant.org是一个基因提供者的资源，为愿意收集家庭关系和历史信息的有动机的家庭提供服务。与临床或研究基因实验室一起工作，他们收集的信息可能有助于使用分离分析对VUS进行重新分类。
Multi-gene cancer panels often identify variants of uncertain clinical significance (VUS) that pose a challenge to health care providers in managing a patient’s cancer risk. Family segregation analysis can yield powerful data to re-classify a VUS (as either benign or pathogenic). However, financial and personnel resources to coordinate these studies are limited. In an informal assessment we found that family studies for variant classification are done by most clinical genetics laboratories that offer hereditary cancer panel testing. The process for family studies differs substantially across laboratories. One near universal limitation is that families usually have too few individuals for an informative co-segregation analysis. A unique and potential resource-saving approach is to engage patients and their families in expanding their own pedigrees for segregation analysis of their VUS. We describe a novel public educational tool (FindMyVariant.org) designed to inform patients and genetic counselors about strategies to improve the probability of variant classification using familial segregation. While the web tool is designed to be useful for any gene, the project was primarily focused on VUS’s returned in cancer risk genes. FindMyVariant.org is a resource for genetic providers to offer motivated families who are willing to gather information about their family relationships and history. Working alongside clinical or research genetic laboratories, the information they collect may help reclassify their VUS using segregation analysis.
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影响因子：
4.1
作者：
Pritchard, Colin C.;Salipante, Stephen J.;Walsh, Tom
通讯作者：
Walsh, Tom
影响因子：
4.1
作者：
Green, Anna;Green, Henrik;Jonasson, Jon
通讯作者：
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影响因子：
2
作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
Tibben, Aad
DOI：
10.1002/ajmg.c.30104
发表时间：
2006-11-15
影响因子：
3.1
作者：
O'Neill, Suzanne C.;Demarco, Tiffani;Schwartz, Marc D.
通讯作者：
Schwartz, Marc D.