TY - JOUR
T1 - DNA-poli
T2 - Design and development of a digital platform for family communication support and predictive genetic counseling on inherited diseases
AU - Beinema, Tessa C
AU - van Lingen, Marlies N
AU - van den Heuvel, Lieke M
AU - Siemelink, Marten A
AU - Kolkmeier, Jan
AU - Klaassen, Randy
AU - Ploem, Corrette
AU - Cornel, Martina C
AU - Giesbertz, Noor A A
AU - van Essen, Dianne
AU - Heylen, Dirk K J
AU - van Tintelen, J Peter
N1 - Publisher Copyright:
© 2025 The Authors
PY - 2025/7
Y1 - 2025/7
N2 - 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.
AB - 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.
U2 - 10.1016/j.pec.2025.108746
DO - 10.1016/j.pec.2025.108746
M3 - Article
C2 - 40112579
SN - 0738-3991
VL - 136
JO - Patient Education and Counseling
JF - Patient Education and Counseling
M1 - 108746
ER -