

Results: Key themes that emerged from the cognitive walkthrough were design, format, navigation, terminology, instructions, and learnability. Participants navigated the prototype using the think-aloud technique, and their feedback was used to refine features 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. Usability guidelines and standards were taken into account during the design and development of the tool. Probands can also use the tool to draw a family pedigree and learn more about familial hypercholesterolemia through education modules and curated knowledge resources. 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. Objective: We aimed to create and evaluate a web-based tool designed to enhance familial communication and promote cascade testing for familial hypercholesterolemia. 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. 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. JMIR Bioinformatics and Biotechnology 27 articlesĮmail: Familial hypercholesterolemia, a prevalent genetic disorder, remains significantly underdiagnosed in the United States.JMIR Biomedical Engineering 65 articles.JMIR Perioperative Medicine 75 articles.Journal of Participatory Medicine 75 articles.JMIR Rehabilitation and Assistive Technologies 184 articles.JMIR Pediatrics and Parenting 251 articles.Interactive Journal of Medical Research 274 articles.JMIR Public Health and Surveillance 998 articles.Journal of Medical Internet Research 7021 articles.
