作者: Daoud Meerzaman , Barbara K. Dunn
DOI: 10.1158/0008-5472.CAN-19-0769
关键词:
摘要: The recent explosion and ease of access to large-scale genomics data is intriguing. However, serious obstacles exist the optimal management entire spectrum from production in laboratory through bioinformatic analysis statistical evaluation ultimately clinical interpretation. Beyond multitude technical issues, what stands out most absence adequate communication among specialists these domains. Successful interdisciplinary collaborations along pipeline extending experiments analyses application are notable large scale, well managed projects such as Cancer Genome Atlas. certain settings which various experts perform their specialized research activities isolation, siloed approach contributes generation questionable genomic interpretations. Such situations particularly concerning when ultimate endpoint involves genetic/genomic interpretations that intended for applications. In spite fact clinicians express interest gaining a better understanding applications, lack upstream leaves them with level discomfort applying knowledge patient care. This especially evident healthcare providers who not trained geneticists, particular primary care physicians. We offer some initiatives have potential address this problem, emphasis on improved ongoing all fields, constituting comprehensive “pipeline” patient.