Abstract

Electronic health record (EHR)-based clinical decision support (CDS) can address the low awareness and undertreatment of familial hypercholesterolemia (FH), a disorder associated with a markedly increased risk of coronary heart disease. We aimed to incorporate provider perspectives into the development and implementation of a CDS tool for FH. An implementation science framework and a user-centered design process were used to create a CDS tool for FH. Primary care physicians and specialist physicians participated in qualitative interviews, usability testing and an implementation survey. The CDS was configured in two formats—a best practice alert (BPA) and an in-basket message and subsequently deployed in the EHR in silent mode. The key themes that emerged from the analysis of interview transcripts included understanding and awareness of FH, clinical workflow, physician preferences and value of CDS tools, perspectives on patient needs and values and dissemination and implementation. Recommendations related to usability included preferred CDS format and placement, content, timing and frequency, and level of alert urgency/prioritization. In response to the survey, 84.6% of physicians agreed that the CDS would improve early FH diagnosis and 92.3% agreed that it would help them identify and manage FH patients. Physician feedback led to iterative CDS refinement. In summary, we developed a CDS tool for FH using an implementation science framework and physician feedback. Initial deployment revealed a significant burden of FH and the potential for the CDS tool to have a large impact.

Highlights

  • Familial hypercholesterolemia (FH), is often monogenic in etiology, remains vastly undiagnosed and untreated in the United States and is an ideal use case for the development of a clinical decision support (CDS) tool aimed at improving case detection and treatment as well as promoting cascade testing [1,2,3]

  • Thirteen physicians from primary care and cardiovascular medicine were recruited to the study and gave informed consent prior to participation in the qualitative interviews and usability testing—seven were primary care physicians (PCPs) and six were specialist physicians

  • Positive responses were noted for questions pertaining to the Consolidated Framework for Implementation Research (CFIR) constructs; 84.6% (n = 11) of physicians indicated that the CDS tool would improve early diagnosis of patients with FH, while 92.3% (n = 12) of physicians agreed that the CDS tool would help them identify, refer or manage FH patients

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Summary

Introduction

Familial hypercholesterolemia (FH), is often monogenic in etiology, remains vastly undiagnosed and untreated in the United States and is an ideal use case for the development of a clinical decision support (CDS) tool aimed at improving case detection and treatment as well as promoting cascade testing [1,2,3]. Awareness of FH is low among both patients and providers [4,5] Providers in both primary care as well as specialty clinics such as cardiology often perceive all cases of hypercholesterolemia failing to recognize the higher risk of coronary heart disease (CHD) and the need for familial testing when the etiology is genetic. In the face of the ever-increasing volume and complexity of medical data, the delivery of CDS to health care providers at the point-of-care is an urgent need. Nowhere is this need more acute than for the practice of genomic medicine in the primary care setting where providers are often uncertain about the interpretation and application of genomic test results to patient care [7,8]. Electronic health record (EHR) systems have added complexity to clinical workflows, reduced provider–patient interactions and increased cognitive burden and burnout [14]

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