Deploying Clinical Decision Support for Familial Hypercholesterolemia.

Ali Mir,Laurie Pencille,Pedro J Caraballo,Joseph Sutton,Ozan Dikilitas,Justin H Gundelach,Ahmed Makkawy,Omar Elsekaily,Iftikhar J Kullo,Hana Bangash,Robert Freimuth

doi:10.1055/s-0040-1721489

Abstract

Familial hypercholesterolemia (FH), a prevalent genomic disorder that increases risk of coronary heart disease, remains significantly underdiagnosed. Clinical decision support (CDS) tools have the potential to increase FH detection. We describe our experience in the development and implementation of a genomic CDS for FH at a large academic medical center. CDS development and implementation were conducted in four phases: (1) development and validation of an algorithm to identify "possible FH"; (2) obtaining approvals from institutional committees to develop the CDS; (3) development of the initial prototype; and (4) use of an implementation science framework to evaluate the CDS. The timeline for this work was approximately 4 years; algorithm development and validation occurred from August 2018 to February 2020. During this 4-year period, we engaged with 15 stakeholder groups to build and integrate the CDS, including health care providers who gave feedback at each stage of development. During CDS implementation six main challenges were identified: (1) need for multiple institutional committee approvals; (2) need to align the CDS with institutional knowledge resources; (3) need to adapt the CDS to differing workflows; (4) lack of institutional guidelines for CDS implementation; (5) transition to a new institutional electronic health record (EHR) system; and (6) limitations of the EHR related to genomic medicine. We identified multiple challenges in different domains while developing CDS for FH and integrating it with the EHR. The lessons learned herein may be helpful in streamlining the development and deployment of CDS to facilitate genomic medicine implementation.

Highlights

Background and SignificanceTier 1 genomic disorders including familial hypercholesterolemia (FH), Lynch syndrome, and hereditary breast and ovarian cancer syndromes affect approximately 1 in 100 individuals in the United States.[1]
During clinical decision support (CDS) implementation six main challenges were identified: (1) need for multiple institutional committee approvals; (2) need to align the CDS with institutional knowledge resources; (3) need to adapt the CDS to differing workflows; (4) lack of institutional guidelines for CDS implementation; (5) transition to a new institutional electronic health record (EHR) system; and (6) limitations of the EHR related to genomic medicine
The lessons learned may be helpful in streamlining the development and deployment of CDS to facilitate genomic medicine implementation

Summary

Introduction

Tier 1 genomic disorders including familial hypercholesterolemia (FH), Lynch syndrome, and hereditary breast and ovarian cancer syndromes affect approximately 1 in 100 individuals in the United States.[1] FH, the most prevalent of these conditions, continues to have poor awareness, detection, and control.[2,3] The uptake of cascade testing for FH is low and approximately 90% of individuals with FH in the United States remain undiagnosed.[4,5] The current generation of electronic health record (EHR) systems is not well equipped for genomic medicine implementation; instead of increasing provider efficiency and simplifying clinical workflows, EHRs add to provider cognitive burden.[6,7] Genomic medicine implementation through the development and use of digital tools including clinical decision support (CDS), has the potential to provide evidence-based treatment recommendations, knowledge resources, and actionable order sets to health care providers at the point-of-care; facilitating FH awareness, improving early detection and treatment, and promoting cascade testing of at-risk family members.[8] In this report, we provide an overview of the process, timeline, and challenges encountered in the development and implementation of a CDS tool for FH, a relatively common genomic disorder with substantial public health implications, at a large academic institution

Methods

Results

Discussion

Conclusion