The Genetics Navigator: Evaluating a Digital Platform for Genomics Health Services
1 other identifier
interventional
170
1 country
3
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started Oct 2025
3 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
September 5, 2023
CompletedFirst Posted
Study publicly available on registry
June 12, 2024
CompletedStudy Start
First participant enrolled
October 28, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 1, 2027
ExpectedStudy Completion
Last participant's last visit for all outcomes
July 1, 2027
December 24, 2025
December 1, 2025
1.3 years
September 5, 2023
December 17, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Multi-Dimensional Impact of Cancer Risk Assessment (MICRA)
The Multi-Dimensional Impact of Cancer Risk Assessment (MICRA) is a 25-item standardized, validated scale that measures the impact of result disclosure from genetic tests. There are three subscales: Distress (6 items), Uncertainty (9 items) and Positive Experiences (4 items). Total scores range from 0-125, with higher scores indicating worse outcome. Scores on the Distress subscale range from 0-30, with higher scores indicating worse outcome. Scores on the Uncertainty subscale range from 0-45, with higher scores indicating worse outcome. Scores on the Positive Experiences Subscale range from 0-20, with higher scores indicating worse outcomes. (PMID: 12433008)
At 6 months and 9 months after baseline
Secondary Outcomes (17)
University of North Carolina Genomic Knowledge Scale (UNC-GKS)
Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months
SURE
Assessed at 1 month
Hospital Anxiety and Depression Scale (HADS)
Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months
The Genomics Outcome Scale (GOS)
Assessed at 2 weeks, 1 month, 6 months and 9 months
36-item Short Form Survey (SF-36)
Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months
- +12 more secondary outcomes
Study Arms (2)
Genetics Navigator
EXPERIMENTALParticipants in the intervention arm will use the Genetics Navigator to support the delivery of genetic services, including intake, education, pre- and post-test counselling, return of results, and physician-generated management recommendations. Participants in the experimental arm will also receive standard of care genetics care.
Standard Care with Genetics Professionals
ACTIVE COMPARATORParticipants 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.
Interventions
The Genetics Navigator will be used to support patients during the delivery of genetic services, including intake, education, pre- and post-test counselling, and physician-generated management recommendations
Standard care for the delivery of genetic services, including receiving genetic counselling and test results
Eligibility Criteria
You may qualify if:
- Adult patients (18 years of age or older) who are referred to participating clinicians at Mount Sinai Hospital for clinical genetic testing.
- Parents/legal guardians (18 years of age or older) of pediatric patients who are referred to participating clinicians at SickKids for clinical genetic testing.
You may not qualify if:
- Known not to be eligible for clinical genetic testing in Ontario
- Requires urgent clinical genetic testing or prenatal genetic testing
- Not fluent in English (speaking and reading)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (3)
Mount Sinai Hospital
Toronto, Ontario, M5G 1X5, Canada
The Hospital for Sick Children
Toronto, Ontario, M5G 1X8, Canada
Sunnybrook Hospital
Toronto, Canada
Related Publications (1)
D'Amours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D, Bernier F, Chad L, Costain G, Dhalla I, Faghfoury H, Friedman JM, Hewson S, Jamieson T, Silver J, Shuman C, Osmond M, Carroll JC, Jobling R, Laberge AM, Aronson M, Liston E, Lerner-Ellis J, Marshall C, Brudno M, Pham Q, Rudzicz F, Cohn R, Mamdani M, Smith M, Shastri-Estrada S, Seto E, Thorpe K, Ungar W, Hayeems RZ, Bombard Y. Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations. BMJ Open. 2024 Sep 3;14(9):e090084. doi: 10.1136/bmjopen-2024-090084.
PMID: 39231549DERIVED
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Yvonne Bombard, PhD
St. Michael's Hospital and University of Toronto
- PRINCIPAL INVESTIGATOR
Robin Hayeems, PhD
The Hospital for Sick Children and University of Toronto
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- RANDOMIZED
- Masking
- NONE
- Purpose
- HEALTH SERVICES RESEARCH
- Intervention Model
- PARALLEL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
September 5, 2023
First Posted
June 12, 2024
Study Start
October 28, 2025
Primary Completion (Estimated)
March 1, 2027
Study Completion (Estimated)
July 1, 2027
Last Updated
December 24, 2025
Record last verified: 2025-12
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL, SAP, ICF
- Time Frame
- For 5 years after study has been completed and the trail data has been published.
- Access Criteria
- Data will be made available to research who are interested in / conducting similar research in this field. This data will be available upon request, keeping with research ethics procedures.
Data will be made available to research who are interested in / conducting similar research in this field. This data will be available upon request, keeping with research ethics procedures.