Abstract
PURPOSE: The current uptake of predictive genetic counseling among at-risk relatives (ARRs) for cardiogenetic diseases is suboptimal, with 40% to 50% of ARRs undergoing testing within 1 to 3 years after disclosure. Digital technologies are increasingly proposed to improve accessibility, efficiency, and uptake of predictive genetic counseling and, if desired, predictive genetic testing. Therefore, DNA-poli was developed: a digital platform providing family communication support and pre- and posttest genetic counseling for ARRs. Here, we describe the study protocol for a randomized controlled trial evaluating DNA-poli in clinical practice.
METHODS: A noninferiority multicenter randomized controlled trial with parallel group design will be conducted. The intervention group using the DNA-poli platform will be compared with a control group receiving regular counseling. Probands with genetic hypertrophic or dilated cardiomyopathy will be included along with their ARRs and physicians. The primary outcome is the uptake of cardiogenetic counseling 6- and 12-months after result disclosure and stakeholders' experiences. Secondary outcomes are informed decision making in ARRs, empowerment, and satisfaction in all stakeholder groups. In addition, the efficiency of consultations and the genetic care process will be analyzed. Descriptive and inferential statistics will be performed to analyze data.
DISCUSSION: This study aims to provide insight into the potential of digitalizing the cascade genetic testing process in cardiogenetics. Demonstrating noninferiority of the DNA-poli pathway compared with standard care could have major implications, suggesting that counseling supported by digital tools is at least equally effective. This may enhance the cascade genetic testing process, uptake, and efficiency while maintaining high quality standards.
| Original language | English |
|---|---|
| Article number | 103456 |
| Pages (from-to) | 1-12 |
| Number of pages | 12 |
| Journal | Genetics in Medicine Open |
| Volume | 3 |
| Early online date | 10 Sept 2025 |
| DOIs | |
| Publication status | Published - 2025 |
Bibliographical note
© 2025 The Authors.Funding
This work was supported by ZonMW/IMDI grant number 104021006 and the Dutch Heart Foundation ( https://www.hartstichting.nl/ ) grant number 2019B012 . The authors acknowledge Laura Yeates, PhD, for her contribution to the final version of this paper. A preprint version of this article is available in medRxiv at https://doi.org/10.1101/2024.11.04.24316732. This work was supported by ZonMW/IMDI grant number 104021006 and the Dutch Heart Foundation (https://www.hartstichting.nl/) grant number 2019B012. Conceptualization: M.L. L.H. P.T. M.S.; Funding Acquisition: L.H. P.T. D.H. M.S.; Writing-original draft: J.M. M.L. L.H.; Writing-review and editing: M.L. L.H. J.M. P.T. R.K. T.B. D.H. M.S.; Supervision: M.L. L.H. P.T. Ethics, The study protocol was exempted from approval by the Research Ethics Committee NedMec because the Act of Medical Research Involving Human Subject (WMO) was not applicable (no. 23-066/C). The study protocol was also approved by local IRBs of the participating sites. We will obtain online informed consent from all participants. In case of any questions, the research team at the UMC Utrecht will answer questions via phone or email. Participants will receive a copy of the informed consent form via DNA-poli or Castor EDC. All data collected for this study will be kept confidential. Source data are stored at each participating cite, whereas study data are stored in a secured research folder at the UMC Utrecht. There will be data sharing agreements between UMC Utrecht (UMCU) and each of the participating sites. The study will not have a data monitoring committee because we do not anticipate severe adverse effects, and it was not required for our study. To assure compliance with study protocols and ethical standards, the UMCU regularly conducts audits of research studies. Protocol amendments will be communicated to investigators and local IRBs of the participating cites and trial participants, if applicable. Dissemination, Alongside peer-reviewed journal publications, study findings will be shared with all stakeholders and during international and national conferences. Author eligibility will be based on ICMJE guidelines. Marlies N. van Lingen: https://orcid.org/0000-0002-2840-8716, Janine V. Meulenkamp: https://orcid.org/0009-0008-9169-8868, Marten A. Siemelink: https://orcid.org/0009-0002-0603-2516, Tessa C. Beinema; https://orcid.org/0000-0003-3513-0641, Randy Klaassen: https://orcid.org/0000-0002-9296-6974, Dirk K.J. Heylen: https://orcid.org/0000-0003-4288-3334, J. Peter van Tintelen: https://orcid.org/0000-0003-3854-6749, Lieke M. van den Heuvel: https://orcid.org/0000-0003-4248-320X, The trial is registered with number NCT06431425 (ClinicalTrials.gov). Participant enrolment started in November 2023. The final proband is expected to be included in November 2025, and the final ARR in November 2026. This article describes the DNA-poli trial protocol version of March 2023. This trial is sponsored and coordinated by the University Medical Centre Utrecht (https://www.umcutrecht.nl). Study sponsor and funders had no role in study design.
| Funders | Funder number |
|---|---|
| ZonMw | |
| Laura Yeates | |
| IMDI | 104021006 |
| Hartstichting | 2019B012 |
Fingerprint
Dive into the research topics of 'Evaluation of DNA-poli: Study protocol of a randomized controlled trial to assess a digital platform for family cascade genetic testing and predictive genetic counseling'. Together they form a unique fingerprint.Cite this
- APA
- Author
- BIBTEX
- Harvard
- Standard
- RIS
- Vancouver