DNA-poli: Design and development of a digital platform for family communication support and predictive genetic counseling on inherited diseases

Abstract

OBJECTIVES: By developing a digital platform ("DNA-poli") we aim to improve the uptake and efficiency of predictive genetic counseling and cascade testing for relatives at-risk of inherited conditions. This is crucial for reducing disease morbidity and mortality while meeting the growing demand for genetic counseling. We outline the design, development, and final concept and prototype of DNA-poli and discuss the challenges faced and how these were addressed. METHODS: We followed an approach based on the Design Thinking and Human-Centered Design methods, which entails four stages: 1) Discover/Define, 2) Design, 3) Develop, and 4) Deliver. Stakeholders were actively involved through interviews, focus groups, and sounding board consultations. Two inherited cardiac conditions (hypertrophic cardiomyopathy and dilated cardiomyopathy) served as the first use case. RESULTS: The DNA-poli prototype is a digital outpatient clinic for predictive counseling on inherited conditions and cascade testing. It facilitates both pre-test and post-test genetic counseling, including information provision on specific conditions and tests, decision support, collecting medical information from a counselee, and return of results. ARRs can process relevant information online at their convenience and can request genetic tests locally after a short teleconsultation with a healthcare professional. A conversational agent is incorporated to answer questions and collect patient characteristics. CONCLUSIONS: DNA-poli is the first digital cardiogenetics platform to encompass the full genetic care pathway for family communication and predictive genetic counseling. Development challenges related to logistical implementation, ethical and legal considerations, and ensuring quality of care standards. PRACTICE IMPLICATIONS: DNA-poli allows timely, efficient, and flexible access to predictive counseling, supporting probands with informing their ARRs. ARRs have access to personalized information and modules to support decision-making at their convenience.