Evidence map›Paper›PMID 42053169›Full record

ArticleJournal of genetic counseling2026

Digital genetic counseling services for cascade cardiogenetic testing.

Marlies N van Lingen, Sietske A L van Till, Noor A A Giesbertz, Tessa C Beinema, Margreet G E M Ausems, Randy Klaassen, Martina C Cornel, Lieke M van den Heuvel, J Peter van Tintelen

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Marlies N van LingenDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID https://orcid.org/0000-0002-2840-8716
Sietske A L van TillDepartment of Medical Ethics, Philosophy and History of Medicine, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.ORCID https://orcid.org/0000-0003-4891-9596
Noor A A GiesbertzDepartment of Clinical Genetics, Antoni van Leeuwenhoek Netherlands Cancer Institute, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0001-5664-8883
Tessa C BeinemaDepartment of Human Media Interaction, University of Twente, Enschede, The Netherlands.ORCID https://orcid.org/0000-0003-3513-0641
Margreet G E M AusemsDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID https://orcid.org/0000-0003-0305-3477
Randy KlaassenDepartment of Human Media Interaction, University of Twente, Enschede, The Netherlands.ORCID https://orcid.org/0000-0002-9296-6974
Martina C CornelDepartment of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0002-5397-5544
Lieke M van den HeuvelDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID https://orcid.org/0000-0003-4248-320X
J Peter van TintelenDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID https://orcid.org/0000-0003-3854-6749

Funding

Hartstichting 2019B012ZonMw 104021006
6 · The paper itself

Abstract

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.

Indexed as

Genetic CounselingGenetic TestingAdultDigital HealthDigital MediaFemaleFocus GroupsHumansMaleMiddle Agedcardiogeneticscascade testingdigital toolsgenetic counselinguser perspective

Identifiers

PMID42053169
PMCPMC13127103

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.