Digital genetic counselling services for cascade cardiogenetic testing: a focus group study on proband, relative, and provider perspectives

Abstract Digital interventions are potentially promising to improve accessibility and efficiency of genetic counselling services. However, current literature on stakeholder perspectives towards 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) towards digital innovations for assistance with both pre-test and post-test counselling and cascade genetic testing in cardiogenetics. We conducted seven online focus groups, which where transcribed and thematically analysed. 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. Stakeholders expressed a predominantly positive attitude towards digitisation of (parts of) the predictive genetic counselling in cardiogenetics, under the condition that access to human contact is preserved. In the clinical setting of predictive counselling, efforts should be made to ensure access to genetic services for all ARR and to protect in-person involvement of HCP. Competing Interest Statement The authors have declared no competing interest. Funding Statement This study was funded by ZonMW/IMDI and the Dutch Heart Foundation. Grant number 104021006 (ZonMW) 2019B012 (Dutch Heart Foundation). Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: Medical Ethical Committee NedMec waived ethical approval for this work, because the Act of Medical Research Involving Human Subjects (WMO) was not applicable (research proposal no. 21-474/C). I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes Data availability Anonymised data are available from the corresponding author upon reasonable request.