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

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.