Pennington Jeffrey W, Karavite Dean J, Krause Edward M, Miller Jeffrey, Bernhardt Barbara A, Grundmeier Robert W
Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
J Am Med Inform Assoc. 2017 Jul 1;24(4):851-856. doi: 10.1093/jamia/ocw184.
Clinical genome and exome sequencing can diagnose pediatric patients with complex conditions that often require follow-up care with multiple specialties. The American Academy of Pediatrics emphasizes the role of the medical home and the primary care pediatrician in coordinating care for patients who need multidisciplinary support. In addition, the electronic health record (EHR) with embedded clinical decision support is recognized as an important component in providing care in this setting. We interviewed 6 clinicians to assess their experience caring for patients with complex and rare genetic findings and hear their opinions about how the EHR currently supports this role. Using these results, we designed a candidate EHR clinical decision support application mock-up and conducted formative exploratory user testing with 26 pediatric primary care providers to capture opinions on its utility in practice with respect to a specific clinical scenario. Our results indicate agreement that the functionality represented by the mock-up would effectively assist with care and warrants further development.
临床基因组和外显子组测序能够诊断患有复杂病症的儿科患者，这些病症往往需要多个专科的后续护理。美国儿科学会强调医疗之家以及初级保健儿科医生在协调需要多学科支持的患者护理方面的作用。此外，嵌入临床决策支持功能的电子健康记录（EHR）被认为是在这种情况下提供护理的重要组成部分。我们采访了6名临床医生，以评估他们护理具有复杂和罕见基因检测结果患者的经验，并听取他们对EHR目前如何支持这一角色的看法。利用这些结果，我们设计了一个候选EHR临床决策支持应用程序原型，并对26名儿科初级保健提供者进行了形成性探索性用户测试，以收集他们对该原型在特定临床场景中的实用性的意见。我们的结果表明，大家一致认为该原型所代表的功能将有效地协助护理工作，值得进一步开发。
