Genetics Navigator for Genetic Conditions
Trial Summary
What is the purpose of this trial?
Genetic testing (GT) (including targeted panels, exome and genome sequencing) is increasingly being used for patient care as it improves diagnosis and health outcomes. In spite of these benefits, genetic testing is a complex and costly health service. This results in unequal access, increased wait times and inconsistencies in care. The use of e-health tools to support genetic testing delivery can result in a better patient experience and reduced distress associated with waiting for results and empower patients to receive and act on medical results. We have previously developed and tested an interactive, adaptable and patient-centred digital decision support tool (Genetics ADvISER) to be used for genetic testing decision making, and have now developed the Genetics Navigator (GN), a patient-centred e-health navigation platform for end-to-end genetic service delivery. The objective of this study is to evaluate the effectiveness of the GN in an RCT in reducing distress with patients and parents of patients being offered genetic testing. Results of this trial will be used to establish whether the GN is effective to use in practice. If effective, GN could fill a critical clinical care gap and improve health outcomes and service use by reducing counselling burden as well as overuse, underuse and misuse of services. These are concerns policy makers seek to address through the triple aims of health care1. This study represents a significant advance in personalized health by assessing the effectiveness of this novel, comprehensive e-health platform to ultimately improve genetic service delivery, accessibility, patient experiences, and patient outcomes.
Do I need to stop my current medications for this trial?
The trial information does not specify whether you need to stop taking your current medications. It seems focused on genetic testing and does not mention medication changes.
What data supports the effectiveness of the treatment Genetics Navigator for Genetic Conditions?
Research shows that digital tools in genetic services, like Genetics Navigator, can improve patient knowledge, well-being, and engagement, while also making healthcare more efficient. These tools help patients understand their genetic information better and communicate more effectively with healthcare providers.12345
What safety data exists for Genetics Navigator in humans?
Human genetics research can help identify potential safety risks of new treatments by studying genetic variants that model the effects of these treatments over a lifetime. This approach can predict possible adverse effects and improve the safety assessment of new drugs, even if animal models are not available.678910
How is the Genetics Navigator treatment different from other treatments for genetic conditions?
The Genetics Navigator treatment is unique because it integrates both genetic and phenotypic data to diagnose genetic disorders, using advanced methods like ACMG-Bayes and phenotypic similarity. This approach allows for a more comprehensive analysis compared to traditional methods that often rely solely on genetic sequencing.1112131415
Research Team
Yvonne Bombard, PhD
Principal Investigator
St. Michael's Hospital and University of Toronto
Robin Hayeems, PhD
Principal Investigator
The Hospital for Sick Children and University of Toronto
Eligibility Criteria
This trial is for patients or parents of patients with neurodevelopmental disorders, retinal disease, connective tissue disease, cardiac conditions, or childhood epilepsy who are being offered genetic testing. It aims to evaluate a digital platform called Genetics Navigator.Inclusion Criteria
Exclusion Criteria
Timeline
Screening
Participants are screened for eligibility to participate in the trial
Intervention
Participants in the intervention arm will use the Genetics Navigator to support the delivery of genetic services, including intake, education, pre- and post-test counselling, and physician-generated management recommendations.
Control
Participants in the control arm will receive their genetic counselling and test results through usual care, which consists of in-person/phone/video-conference consults with genetic counsellors and medical geneticists.
Follow-up
Participants are monitored for safety and effectiveness after treatment
Treatment Details
Interventions
- Genetics Navigator
Find a Clinic Near You
Who Is Running the Clinical Trial?
Unity Health Toronto
Lead Sponsor