Dorschner Michael O, Amendola Laura M, Shirts Brian H, Kiedrowski Lesli, Salama Joseph, Gordon Adam S, Fullerton Stephanie M, Tarczy-Hornoch Peter, Byers Peter H, Jarvik Gail P
Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):85-92. doi: 10.1002/ajmg.c.31395. Epub 2014 Mar 10.
To effectively articulate the results of exome and genome sequencing we refined the structure and content of molecular test reports. To communicate results of a randomized control trial aimed at the evaluation of exome sequencing for clinical medicine, we developed a structured narrative report. With feedback from genetics and non-genetics professionals, we developed separate indication-specific and incidental findings reports. Standard test report elements were supplemented with research study-specific language, which highlighted the limitations of exome sequencing and provided detailed, structured results, and interpretations. The report format we developed to communicate research results can easily be transformed for clinical use by removal of research-specific statements and disclaimers. The development of clinical reports for exome sequencing has shown that accurate and open communication between the clinician and laboratory is ideally an ongoing process to address the increasing complexity of molecular genetic testing.
为了有效地阐述外显子组和基因组测序的结果，我们完善了分子检测报告的结构和内容。为了传达一项旨在评估外显子组测序在临床医学中应用的随机对照试验的结果，我们制定了一份结构化的叙述性报告。在遗传学和非遗传学专业人员的反馈下，我们制定了单独的针对特定指征和偶然发现的报告。标准检测报告要素辅以针对研究的特定语言，突出了外显子组测序的局限性，并提供了详细的结构化结果和解释。我们为传达研究结果而制定的报告格式，通过去除特定于研究的陈述和免责声明，可轻松转换为临床使用。外显子组测序临床报告的制定表明，临床医生和实验室之间准确、开放的沟通理想情况下是一个持续的过程，以应对分子基因检测日益增加的复杂性。
