Academic Journal

Digital genetic counseling services for cascade cardiogenetic testing

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Digital genetic counseling services for cascade cardiogenetic testing
Συγγραφείς: van Lingen, Marlies N, van Till, Sietske A L, Giesbertz, Noor A A, Beinema, Tessa C, Ausems, Margreet G E M, Klaassen, Randy, Cornel, Martina C, van den Heuvel, Lieke M, van Tintelen, J Peter, Genetica Groep Van Tintelen, Genetica, Genetica Klinische Genetica, Cancer, Child Health, Circulatory Health
Έτος έκδοσης: 2026
Θεματικοί όροι: Adult, Female, Focus Groups, Genetic Counseling/methods, Genetic Testing/methods, Humans, Male, Middle Aged, Journal Article
Περιγραφή: Digital interventions are potentially promising to improve accessibility and efficiency of genetic counseling services. However, current literature on user perspectives toward digital tools for cascade testing is limited. Therefore, this focus-group study aimed to gain insights into the attitude and perspectives of probands, at-risk relatives (ARR), and genetic healthcare professionals (HCP) toward digital innovations for assistance with both pretest and posttest counseling and cascade genetic testing in cardiogenetics. We conducted seven online focus groups, which were transcribed and thematically analyzed. In total, 37 individuals participated (10 probands, 11 ARR and 16 HCP). Thematic analysis of focus group transcripts showed a first theme of (1) acceptability of digital tools. Other identified themes were defined as "domains," where digital tools impact traditional, in-person clinical genetic care, being (2) family communication, (3) decision-making, (4) care relations, and (5) the genetic care system. Participants expressed a predominantly positive attitude toward the digitization of (parts of) the predictive genetic counseling journey in cardiogenetics under the condition that access to human contact is preserved. In the clinical setting of predictive counseling, efforts should be made to ensure access to genetic services for all ARR and to protect in-person involvement of HCP.
Τύπος εγγράφου: article in journal/newspaper
Περιγραφή αρχείου: application/pdf
Γλώσσα: English
ISSN: 1059-7700
Relation: https://dspace.library.uu.nl/handle/1874/484709
Διαθεσιμότητα: https://dspace.library.uu.nl/handle/1874/484709
Rights: info:eu-repo/semantics/OpenAccess
Αριθμός Καταχώρησης: edsbas.FAC81ED5
Βάση Δεδομένων: BASE