The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing.
The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing.
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实验室-临床医生团队：专业呼吁采取行动，改善沟通和协作，以在染色体微阵列测试中实现最佳患者护理。
DOI：
10.1007/s10897-012-9507-9
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发表时间：
2012
影响因子：
1.9
通讯作者：
Faucett,WAndrew
中科院分区：
文献类型：
--
作者：
Wain,KarenE;Riggs,Erin;Hanson,Karen;Savage,Melissa;Riethmaier,Darlene;Muirhead,Andrea;Mitchell,Elyse;Packard,BethannySmith;Faucett,WAndrew
细胞基因组阵列国际标准(ISCA)联盟是一个全球性的合作组织，致力于通过提高染色体微阵列测试的质量来优化患者护理。ISCA联盟的主要工作是开发在临床微阵列测试过程中识别的拷贝数变体(CNV)的数据库。该数据库是临床医生、实验室和研究人员的强大资源，可用于各种应用，例如促进实验室之间对某些CNV的标准化解释，或在发表的数据稀少时提供用于咨询目的的表型信息。然而，这个数据库临床应用的一个公认的局限性是每个患者可获得的临床信息的质量。临床遗传咨询师凭借其现有的临床职责、病例管理技能和对科学知识不断演变的本质的理解，特别适合于将这些信息传达给实验室。我们打算强调遗传咨询师通过促进ISCA联盟数据库的临床效用以及由贡献实验室提供的单个患者微阵列报告的质量，在确保最佳患者护理方面发挥的关键作用。目前为最大限度地实现这种协作而创建的工具、纸质和电子表格都是共享的。除了做出提供完整临床信息的专业承诺外，遗传咨询师还被邀请成为ISCA成员，并参与该联盟内的讨论和倡议。
The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium’s database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.