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.

Background Familial hypercholesterolemia, a prevalent genetic disorder, remains significantly underdiagnosed in the United States. Cascade testing, wherein individuals diagnosed with familial hypercholesterolemia— probands—contact their family members to inform them of their risk for familial hypercholesterolemia, has low uptake in the United States. Digital tools are needed to facilitate communication between familial hypercholesterolemia probands and their family members and to promote sharing of familial hypercholesterolemia–related risk information. Objective We aimed to create and evaluate a web-based tool designed to enhance familial communication and promote cascade testing for familial hypercholesterolemia. Methods A hybrid type 1 implementation science framework and a user-centered design process were used to develop an interactive web-based tool—FH Family Share—that enables familial hypercholesterolemia probands to communicate information about their familial hypercholesterolemia diagnosis with at-risk relatives. Probands can also use the tool to draw a family pedigree and learn more about familial hypercholesterolemia through education modules and curated knowledge resources. Usability guidelines and standards were taken into account during the design and development of the tool. The initial prototype underwent a cognitive walkthrough, which was followed by usability testing with key stakeholders including genetic counselors and patients with familial hypercholesterolemia. Participants navigated the prototype using the think-aloud technique, and their feedback was used to refine features of the tool. Results Key themes that emerged from the cognitive walkthrough were design, format, navigation, terminology, instructions, and learnability. Expert feedback from the cognitive walkthrough resulted in a rebuild of the web-based tool to align it with institutional standards. Usability testing with genetic counselors and patients with familial hypercholesterolemia provided insights on user experience, satisfaction and interface design and highlighted specific modifications that were made to refine the features of FH Family Share. Genetic counselors and patients with familial hypercholesterolemia suggested inclusion of the following features in the web-based tool: (1) a letter-to-family-member email template, (2) education modules, and (3) knowledge resources. Surveys revealed that 6 of 9 (67%) genetic counselors found information within FH Family Share very easy to find, and 5 of 9 (56%) genetic counselors found information very easy to understand; 5 of 9 (56%) patients found information very easy to find within the website, and 7 of 9 (78%) patients found information very easy to understand. All genetic counselors and patients indicated that FH Family Share was a resource worth returning to. Conclusions FH Family Share facilitates communication between probands and their relatives. Once informed, at-risk family members have the option to seek testing and treatment for familial hypercholesterolemia.

Objective 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. Methods 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. Results 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. Conclusion 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.

BACKGROUND Familial hypercholesterolemia (FH), a prevalent genetic disorder, remains significantly underdiagnosed in the United States (US). Cascade testing, whereby diagnosed FH probands can contact their family members and inform them of their risk for FH, has low uptake in the US. Digital tools are needed to facilitate communication between FH probands and their family members and promote sharing of FH-related risk information. OBJECTIVE In this report we describe the creation and evaluation of a web-based tool designed to enhance familial communication and promote cascade testing for FH. METHODS A hybrid type 1 implementation science framework and a user-centered design process were used to develop an interactive web-based tool — ‘FH Family Share,’ that enables FH probands to communicate information about their FH diagnosis with at risk relatives. Probands can also use FH Family Share to draw a family pedigree, learn more about FH through education modules and access curated knowledge resources. Research-Based Web Design and Usability Guidelines from the US Department of Health and Human Services’ (DHHS) were taken into account during the design and development of the tool. The initial prototype underwent a ‘cognitive walkthrough’ conducted by usability experts, which was followed by usability testing with key stakeholders including genetic counselors (GCs) and FH patients. Participants navigated the prototype and employed the ‘Think Aloud’ technique to share feedback that was used to refine features of FH Family Share. Usability testing was informed by the International Organization for Standardization (ISO) Quality Standards for Usability. RESULTS Six key themes emerged from the cognitive walkthrough including: Design, Format, Navigation, Terminology, Instructions and Learnability. Expert feedback from the cognitive walkthrough resulted in a rebuild of the web-tool to align it with institutional standards. Usability testing with GCs and FH patients provided key insights on user experience, satisfaction and interface design and highlighted specific modifications that were made to iteratively refine the features of FH Family Share and facilitate its clinical integration. GCs and FH patients suggested inclusion of the following features in the web-tool: 1) Templated ‘letter to family member’ email; 2) Education modules; and 3) Knowledge resources. Surveys revealed that 66.7% of GCs found information within the FH Family Share tool ‘very easy to find’ and 55.6% found information ‘very easy to understand,’ while 55.6% of patients found information ‘very easy to find’ within the website and 77.8% of patients found information ‘very easy to understand.’ All GCs and patients found FH Family Share to be a resource worth returning to. CONCLUSIONS We describe the creation of FH Family Share, a web-based tool to promote cascade testing for FH by facilitating communication between probands and their relatives. Once informed, at-risk family members have the option to seek testing and treatment for FH.