Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA.
J Mol Diagn. 2013 Mar;15(2):141-8. doi: 10.1016/j.jmoldx.2012.11.003. Epub 2013 Jan 10.
Next-generation sequencing methods provide an opportunity for molecular pathology laboratories to perform genomic testing that is far more comprehensive than single-gene analyses. Genome-based test results are expected to develop into an integral component of diagnostic clinical medicine and to provide the basis for individually tailored health care. To achieve these goals, rigorous interpretation of high-quality data must be informed by the medical history and the phenotype of the patient. The discipline of pathology is well positioned to implement genome-based testing and to interpret its results, but new knowledge and skills must be included in the training of pathologists to develop expertise in this area. Pathology residents should be trained in emerging technologies to integrate genomic test results appropriately with more traditional testing, to accelerate clinical studies using genomic data, and to help develop appropriate standards of data quality and evidence-based interpretation of these test results. We have created a genomic pathology curriculum as a first step in helping pathology residents build a foundation for the understanding of genomic medicine and its implications for clinical practice. This curriculum is freely accessible online.
下一代测序方法为分子病理学实验室提供了一个机会,可以进行比单基因分析更全面的基因组检测。基于基因组的测试结果有望成为诊断临床医学不可或缺的组成部分,并为量身定制的医疗保健提供基础。为了实现这些目标,必须根据患者的病史和表型对高质量数据进行严格的解释。病理学学科非常适合实施基于基因组的检测并解释其结果,但为了在该领域发展专业知识,必须在病理学家的培训中纳入新知识和技能。病理住院医师应该接受新兴技术的培训,以便将基因组测试结果与更传统的测试适当结合,加速使用基因组数据的临床研究,并帮助制定适当的数据质量标准和基于证据的这些测试结果的解释。我们创建了一个基因组病理学课程,作为帮助病理住院医师为理解基因组医学及其对临床实践的影响奠定基础的第一步。该课程可在线免费获取。