Evaluation of DNA-poli: study protocol of a randomised controlled trial to assess a digital platform for family cascade genetic testing and predictive genetic counselling

IntroductionThe present uptake of predictive genetic counselling among at-risk relatives (ARRs) for cardiogenetic diseases is suboptimal with 40-50% of ARRs being tested after one to three years post- disclosure. Digital technologies are increasingly proposed to improve accessibility, efficiency, and uptake of predictive genetic counselling and, if desired, predictive genetic testing. Therefore, DNA- poli was developed: a digital platform providing family communication support and pre- and post-test genetic counselling for ARRs. The online DNA-poli aims to decrease the threshold for ARRs to seek genetic counselling without compromising the quality of care while increasing the efficiency of genetic care. Here, we describe the study protocol for a randomised controlled trial evaluating DNA- poli in clinical practice. Methods and analysisA non-inferiority multicentre randomised controlled trial with parallel-group design will be conducted. The intervention group using the DNA-poli platform will be compared to a control group receiving regular counselling. Probands with hypertrophic or dilated cardiomyopathy in whom a (likely) pathogenic variant in specific genes with definitive gene-disease validity is identified, will be included like their ARRs and physicians. The primary outcome is the uptake of cardiogenetic counselling six months post-disclosure with an extended follow-up of one year and stakeholders experiences. Secondary outcomes are informed decision-making in ARRs, empowerment, and the satisfaction of all stakeholder groups. In addition, the efficiency of consultations and the genetic care process will be analysed. Descriptive and inferential statistics will be performed to analyse data. Ethics and disseminationThis study protocol was exempted from approval by the Medical Ethical Committee NedMec because the Act of Medical Research Involving Human Subject (WMO) was not applicable (no. 23-066/C). Study findings will be shared with stakeholders, published in journals, and will be presented at both international and national conferences. Registration details NCT06431425 ClinicalTrials.gov