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.
Uji Kegunaan Perangkat Lunak menggunakan Metode Cognitive Walkthrough
