The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service
The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service
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DOI：
10.1038/s41436-019-0602-2
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发表时间：
2020-01-01
影响因子：
8.8
通讯作者：
Corboy, Gregory Philip
中科院分区：
文献类型：
--
作者：
Fennell, Andrew Paul;Hunter, Matthew Frank;Corboy, Gregory Philip
临床遗传学是一门不断发展的专业，受到越来越复杂的研究技术的影响。监控工作负载和工作流程变化的方法对于确保提供充足的服务资源是必要的。方法完成已知工作量和工作流程研究的文献检索，确定价值指标。一个框架的指标，以允许一致的捕获在临床遗传学实践被开发。然后将该框架应用于当地一般遗传学服务数据，以评估服务提供的最新变化。结果有关临床遗传学服务提供指标的文献有限，应用不一致。所生成的度量框架是对一般遗传服务进行一致和持续评估的有用工具。通过应用该框架，确定了新的服务交付趋势和工作量的重大变化。结论临床遗传学服务提供的研究受到使用不一致指标的影响。该框架将允许监测服务交付、案件数量、案件复杂性和工作人员随时间的变化。提供的本地数据表明，实施临床基因组测序对临床服务提供产生了重大影响。应用这一框架可以产生一个全面的服务特征，使资助机构能够证明资源的合理性，以满足临床遗传学日益增长的需求。
Purpose Clinical genetics is an evolving specialty impacted by the availability of increasingly sophisticated investigational technologies. Methods for monitoring the changes in workload and workflow are necessary to ensure adequate service resourcing. Methods A literature search of known workload and workflow studies was completed, identifying metrics of value. A framework of metrics to allow consistent capture in clinical genetics practice was developed. This framework was then applied to local general genetics service data to evaluate recent changes in service delivery. Results Literature regarding service delivery metrics in clinical genetics services is limited and inconsistent in application. The metric framework generated is a useful tool for consistent and ongoing evaluation of general genetics services. Through application of the framework, new service delivery trends and significant changes in workload were identified. Conclusion Studies of clinical genetics service delivery suffer from the use of inconsistent metrics. This framework will allow for monitoring of changes to service delivery, caseload volume, caseload complexity, and workforce over time. Local data presented demonstrate the significant effect that implementing clinical genomic sequencing has had on clinical service delivery. Applying this framework produces a comprehensive service characterization, enabling funding bodies to justify resourcing that addresses the growing demand of clinical genetics.