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常规实践中的分子诊断:质量问题及在复杂疾病中的应用

Molecular diagnostics in routine practice: quality issues and application to complex disease.

作者信息

Ferns Gordon A A, O'Dowd David, Wark Gwen, Collins Nadine

机构信息

The Clinical and Molecular Diagnostics Laboratories, The Royal Surrey County Hospital, Egerton Road, Guildford GU2 7XX, UK.

出版信息

Ann Clin Biochem. 2003 Jul;40(Pt 4):309-12. doi: 10.1258/000456303766476959.

DOI:10.1258/000456303766476959
PMID:12880532
Abstract

The public already has concerns about 'the new genetics', and it is clear that confidence can only be maintained by scrupulous attention to quality. Standards can be improved by harmonization of methods, discouraging poor practice and using appropriate internal and external quality controls. At present, despite the profound implications of genetic test results, few genetic tests are subject to sufficient scrutiny. The Human Genome Project will lead to the identification of numerous genetic variations contributing to multifactorial diseases, and high-throughput technologies will permit the generation of disease-susceptibility profiles. Clinical laboratories will need to develop the wherewithal to handle these data and present them in a format that is clinically useful.

摘要

公众已经对“新遗传学”感到担忧,显然只有通过严格关注质量才能维持信心。可以通过统一方法、摒弃不良做法以及采用适当的内部和外部质量控制来提高标准。目前,尽管基因检测结果具有深远影响,但很少有基因检测受到充分审查。人类基因组计划将导致发现众多导致多因素疾病的基因变异,高通量技术将能够生成疾病易感性图谱。临床实验室将需要具备处理这些数据的能力,并以临床有用的格式呈现它们。

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