CARDIAC CASCADE: Cardiomyopathy and Arrhythmia Risk Dissemination through Innovative Family Sharing - Nest Genomics has created a software platform to launch, implement, and scale longitudinal genomic programs. It supports patients with hereditary syndromes from risk identification to long term management following the latest guidelines for disease management. As a personalized platform built to support and empower patients over time, Nest is well positioned to address challenges around family sharing and cascade testing. A use case focused on cardiac diagnoses has not been developed nor has the functionality to share and communicate genetic risk information. The objective of this Phase I STTR is the development, adaptation, and refinement of the Nest platform for risk communication and disease management in families with hypertrophic cardiomyopathy (HCM), the most common inherited cardiac condition, using a recursive process between Nest Genomics, Virginia Commonwealth University (VCU), and University of Iowa (UI). The technical merit and feasibility of the proposed research and development efforts will be achieved through three aims: Aim 1: Develop HCM content in the Nest platform. Nest Genomics and its academic partners, VCU and UI will collaborate to develop storyboards for patients with HCM and their family members. Storyboards will include guideline driven action items including clinical screening (e.g., echo, ekg), information for affected persons and at-risk relatives. Aim 2: Build Family Sharing Functionality. Nest Genomics, VCU, and UI, will collaborate to develop family sharing functionality within the Nest platform. These developments will focus on integrating the patient’s pedigree information with their user contact list to develop a family sharing plan. The family sharing plan will allow users to easily identify at-risk relatives and select and share authoritative health information (including genetic test reports) with them. The platform will guide relatives through their genetic risk information and facilitate next steps, including scheduling genetic counseling and/or genetic testing and will facilitate feedback loops to support sustained family engagement. Aim 3: Establish usability and acceptability among families with HCM (patient-relative dyads) and healthcare providers. An iterative “think aloud” process will be used to gather feedback from a representative group of participants (n=20 dyads) and 15 genetic healthcare providers. Data will be analyzed to assess usability and acceptability of the content and family sharing functionality. This user feedback will guide revisions of the platform until an acceptable, user-friendly iteration is achieved. Communication of HCM risk among family members is a critical step to ensure relatives have the option to be screened and treated prior to the development of life-threatening complications. Successful completion of this Phase I project will demonstrate feasibility of the product in a diverse population and provide the functionality and data to advance, test and commercialize the product in a Phase II project. This project also provides pilot data for future R-level studies evaluating and comparing effectiveness of the tool in improving communication and cascade screening in families.
