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Digital genetic counseling services for cascade cardiogenetic testing.
Marlies N van Lingen1, Sietske A L van Till2, Noor A A Giesbertz3
1Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Journal of Genetic Counseling
|April 29, 2026
Summary
Digital tools show promise for genetic counseling in cardiogenetics, improving access and efficiency. User perspectives are positive, provided human contact remains central to care.
Area of Science:
- Cardiogenetics
- Genetic Counseling
- Digital Health Interventions
Background:
- Limited literature exists on user perspectives regarding digital tools for cascade testing.
- Digital interventions offer potential for enhanced accessibility and efficiency in genetic counseling services.
Purpose of the Study:
- To explore attitudes and perspectives of probands, at-risk relatives (ARR), and genetic healthcare professionals (HCP) on digital innovations in cardiogenetics.
- To understand the impact of digital tools on pretest and posttest counseling, and cascade genetic testing.
Main Methods:
- Conducted seven online focus groups with 37 participants (10 probands, 11 ARR, 16 HCP).
- Utilized thematic analysis to analyze transcribed focus group data.
Main Results:
- Identified themes including acceptability of digital tools and their impact on family communication, decision-making, care relations, and the genetic care system.
- Participants generally held positive attitudes towards digitizing aspects of predictive genetic counseling, emphasizing the need to preserve human contact.
Conclusions:
- Digital tools are acceptable for cardiogenetics counseling if human interaction is maintained.
- Efforts are needed to ensure equitable access to genetic services for all at-risk relatives and preserve HCP involvement.
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