Turbitt Erin, Halliday Jane L, Metcalfe Sylvia A
Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
Twin Res Hum Genet. 2013 Aug;16(4):833-9. doi: 10.1017/thg.2013.43.
High-resolution genomic tests have the potential to revolutionize healthcare by vastly improving mutation detection. The use of chromosomal microarray (CMA) represents one of the earliest examples of these new genomic tests being introduced and disseminated in the clinic. While CMA has clear advantages over traditional karyotyping in terms of mutation detection, little research has investigated the process by which CMA was implemented in clinical settings. Fifteen key informants, six clinicians, and nine laboratory scientists from four Australian states were interviewed about their experiences during and in the time since CMA was adopted for clinical use. Participants discussed challenges such as result interpretation and communication. Strengths were also highlighted, including the collaborative approaches of some centers. Clinical experiences and opinions can inform larger studies with a range of stakeholders, including patients. The historical perspectives from this retrospective study can be helpful in guiding the implementation of future genomic technologies such as whole exome/genome sequencing.
高分辨率基因组检测有潜力通过大幅改善突变检测来彻底改变医疗保健。染色体微阵列(CMA)的使用是这些新的基因组检测最早在临床中引入和推广的例子之一。虽然CMA在突变检测方面比传统核型分析有明显优势,但很少有研究调查CMA在临床环境中实施的过程。来自澳大利亚四个州的15名关键信息提供者、6名临床医生和9名实验室科学家接受了采访,询问他们在CMA用于临床期间及之后的经历。参与者讨论了诸如结果解读和沟通等挑战。也强调了一些优势,包括一些中心的协作方法。临床经验和意见可为包括患者在内的一系列利益相关者的更大规模研究提供参考。这项回顾性研究的历史观点有助于指导未来基因组技术(如全外显子组/基因组测序)的实施。