An interventional study of Genetics Update Platform plus standard genetic counselling and Standard Genetic Counselling in Genetic Diseases, Genetic Disorders and Cancer, sponsored by Unity Health Toronto. Not yet recruiting at 2 sites in Canada. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-08-31.
Sponsored by Unity Health Toronto · Not applicable, Interventional, and Health services research
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Among 77 studies in Genetic Diseases, Inborn with a site in Canada — 20 open to participants now, 27 under way, 7 of them phase 3. Genetic Diseases, Inborn · Canada.
Among the 77 studies in Genetic Diseases, Inborn with a site in Canada, this one is the 13th largest by planned enrollment of the 63 interventional ones that give a count, is the only one that started in 2027, is one of 8 with no phase, reaches primary completion later than 10 of the 26 other live ones, and was the 77th registered.
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
Browse Genetic Diseases, Inborn studies →20 of the 77 studies in Genetic Diseases, Inborn with a site in Canada are open now. Recruiting first, the newest first:
Biossil Inc. · Sites in Canada
Ages 16–50
Avidity Biosciences, Inc. · Sites in Canada, Australia, Belgium and 7 more countries
Ages 7–16 · Men only
BioMarin Pharmaceutical · Sites in Canada, United States, Australia and 6 more countries
Ages 2–17
CHU de Quebec-Universite Laval · Sites in Canada
Ages 7+
PepGen Inc · Sites in Canada
A study can be open while its sites in Canada have not opened yet or have stopped. Only those recruiting at a site in Canada →
Of the 120 Genetic Diseases, Inborn studies recruiting now, 60 (50%) set no upper age limit and 45 (38%) stop at 75 or younger; 85 take children under 18; 28 take healthy volunteers.
This study: 18 Years and older · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
77 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 11 · Phase 2 33 · Phase 3 25
First in 2006; this study’s year is marked. 1 started in 2027.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 170 is above the median of 40 across 305 interventional studies indexed under Genetic Diseases, Inborn.
Median enrollment 60 across the 63 interventional studies, 74 across the 14 observational. Of the 49 that completed or were terminated, 27 (55%) have results posted.
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61 of 77 have an industry lead sponsor. The 10 most frequent:
Unity Health Toronto is the lead sponsor of 447 studies on the registry; 82 are open to participants now.
Of its 5 completed or terminated interventional studies of FDA-regulated products, 1 (20%) have results posted.
Unity Health Toronto has 1 study filed under Genetic Diseases, Inborn — fewer than ten, so there is no comparison to draw.
6 of the studies in Genetic Diseases, Inborn with a site in Canada that are under way reach primary completion within a year, 2 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06873035Phase 3QED Therapeutics, a BridgeBio companyAn Interventional Study of Infigratinib in Children With Hypochondroplasia | 2027-01 |
| NCT05356195Phase 3Vertex Pharmaceuticals IncorporatedEvaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT) | 2027-11-14 |
| NCT05095727ModernaTX, Inc.A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a) | 2026-11-30 |
| NCT06185764Vertex Pharmaceuticals IncorporatedA Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1) | 2027-02-02 |
| NCT07073378University of CalgaryBCI@Home: Brain Computer Interface Solutions to Enable Youth Living With Severe Disabilities | 2027-08-31 |
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Among the 77 studies in Genetic Diseases, Inborn with a site in Canada, from their registry updates:
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Genomic sequencing (GS) can reveal thousands of genetic variants in each patient. As our understanding of these variants evolves, some may be reclassified, which could have significant implications for a patient's health. However, notifying patients about these changes is challenging and can lead to delays in their care. Patients often feel anxious while waiting for updates, especially when they know their results might change but aren't sure when or how it will affect them. To address this, a new study aims to develop and test a digital platform called "The Genetics Update." This platform will help keep patients informed about their genomic results in a timely manner, potentially reducing the stress and uncertainty that many experience. The study will compare this new approach to the traditional methods of providing updates, such as genetic counseling sessions and letters, to see which is more effective at reducing patient distress. As the use of genomic sequencing continues to grow, finding better ways to communicate updates will become increasingly important.
Genomic sequencing (GS) is a driver of precision medicine: Clinicians are using GS for precision medicine, to diagnose patients and tailor recommendations about their medical care. Germline GS offers increased sensitivity over classic genetic tests, decreasing time-consuming and costly diagnostic cascades.
Genomic test results can change over time: Variants are classified as pathogenic (P), likely pathogenic (LP), VUS, likely benign (LB), or benign (B) per guidelines. However, the evidence on variants in disease changes constantly. Over time, laboratories reanalyze variants and genes, taking into new evidence and updated standards for interpretation.4 Reanalysis may result in a variant being reclassified (e.g. from VUS to P, or LB to B). On average, reclassification takes between 6 months and 2 years after a variant is first identified.5 Ideally, people with reclassified variants should be recontacted as soon as possible within this time frame. Among cancer genes, as many as 38% of reanalyzed variants are reclassified, and this rate can be as high as 43% among VUS. Up to 25% of VUS are reclassified as LP/P, and the remaining 75% downgraded to LB/B. In the context of cancer, such reclassifications have the potential to bring relief to a patient with a VUS, or to indicate their need for more urgent care and/or a refined treatment pathway.
Reclassification can affect patients' care: Identification of novel genomic changes, discovery of novel gene-disease associations, and/or variant reclassifications, (e.g. changes to or from LP/P) can trigger significant changes to patients' management. These changes can include altered frequency and/or types of surveillance, modified surgical recommendations, cascade testing for relatives or removal from a clinical trial. Even reclassifications that typically will not modify management, such as from VUS to LB/B, have the potential to relieve patient and provider uncertainty, and to reduce the risk of inappropriate actions being taken on the basis of the VUS. All of these changes in care depend on timely awareness of the patient (and/or) provider of the reclassification and its implications, particularly when updated genomic results are expected to impact clinical management; all of which are reinforced by international guidelines.
Cancer is the most common condition for which patients will need to be recontacted: Oncologists use tumour and germline GS to identify therapies, and improve diagnosis and management. And as its cost decreases, GS is expected to replace single gene or multigene panel testing as standard of care.
Patients want to be recontacted but waiting for updates causes patient distress: Internationally, patients and providers agree that recontact is desirable, though practically challenging. Patients value reanalysis of their genomic results over time and want to be recontacted with updates to their genomic results, even those with no impact on their medical care. Some cancer patients have been found to experience intrusive thoughts and worry about their genetic cancer risk while waiting for genetic results. Patients who receive VUS report elevated genetic-test specific distress; waiting for updates about VUS may result in further distress. Patients who are recontacted have been found to experience relief from both upgraded and downgraded results, and have been found not to experience distress or reduced trust in medical genetics. Innovative approaches are needed to feasibly recontact patients to deliver updates.
Recontact poses health service delivery challenges: There are high resource impacts for clinicians to recontact patients, which will grow as the scope and volume of possible updates increases. The greatest obstacles include the time and resources required to identify patients whose results have been reclassified, maintain up-to-date contact information or track patients who have moved, consult with patients to deliver updated results, counsel patients about their results' implications and support patients' needs while they wait for their results or after they have received updates, all of which can impact providers' capacity to see new patients. Consequently, recontact practices vary between clinics; in some cases, patients are not recontacted with updated results, and they may not follow their providers' request to call and ask about updates. Approaches to recontact include registries or mailed letters. Neither is scalable or sustainable, and may miss a substantial proportion of patients. Without systematic practices, inequities can arise in information provision and health outcomes. Ultimately, this is a growing service delivery issue: with thousands of patients receiving genetic testing yearly in Ontario alone, the burden of recontacting patients with reinterpreted results is substantial. Genetics services are challenged to meet current demands; the added burden of recontacting patients is infeasible. New service delivery models are urgently needed.
Virtual care is now the norm: The COVID-19 pandemic catalyzed a rapid shift toward virtual healthcare delivery to in order to minimize interruptions in access to care. Digital health applications, such as patient platforms, are increasingly used across the continuum of genetics and genomics service delivery. Digital tools have been found to improve knowledge, reduce clinician time, and promote patient-centered care.
Digital platforms could deliver updates to patients' genomic results over time: Some Ontario hospitals and networks allow patients the option to access their results online. Platforms provide patients with timely access to, and control over their health information, increasing efficiency of service delivery. Patients and members of the public prefer to receive updates through a database compared to no updates, and reported that use of a database for updates would provide them with control over their medical information. We propose to develop a stand-alone platform to provide continual updates to results.
Digital platforms can reduce distress associated with waiting for results and empower patients to act on medical results: A systematic review of patient platforms found that they can improve psychological outcomes such as decision-making and self-efficacy. For patients with diabetes, patient platforms have been found to improve medication adherence, use of preventive services, and clinical outcomes. In interviews, cancer patients report that waiting for a verbal confirmation of results from a provider was more distressful than having control and accessing the results online through a platform. Among cancer patients, platforms reduced distress associated with waiting for pathology results related to a cancer diagnosis. Patient platforms to return genomic test results may provide better infrastructure to support patient-clinician communication, reduce resource burden, mitigate inequities in patients' access to updated health information and reduce distress. However, no tools exist for use in this context.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Arm Description: Participants in this intervention arm will be consented by the study coordinator and then use the Genetics Update platform to support the delivery of their updated genetic test results. Once their updated results are ready, participants will be notified via email and will use the patient platform to access their updated results and recommendations. All participants will have the option to request a meeting with a study genetic counsellor (GC) if needed. Participants who receive a pathogenic, likely pathogenic, or variant of uncertain significance as a result will have a mandatory virtual or telephone meeting with a genetic counsellor to discuss the result and follow up steps.
Behavioral: Genetics Update Platform plus standard genetic counselling
Arm Description: Participants in the control arm will be consented by the study coordinator. Once their results are ready, participants will receive their genetic testing result report through a password protected file via email. The genetic counsellor will be notified once the email has been opened. Participants will have been given the password during their consent process verbally. Should they have misplaced this, they can contact the study coordinator to request the password. If the participant does not open the email to review results, they will be contacted by the study coordinator via phone. Participants who receive a pathogenic, likely pathogenic, or variant of uncertain significance as a result will have a mandatory virtual or telephone meeting with a genetic counsellor to discuss the result and follow up steps.
Behavioral: Standard Genetic Counselling
Patients in this arm will have continual access to the genetics update platform while they wait for the updated genomic sequencing results. The platform will provide access to relevant educational materials and eventually, results of their genetic tests.
Standard Genetic counseling to learn and understand results from genomic sequencing.
Reduce test-specific distress
The Multi-Dimensional Impact of Cancer Risk Assessment (MICRA) is a 21-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)
Time frame: At 0, 2 and 4 weeks of receiving genetic test results for both study arms
Knowledge
Knowledge is measured using a genomics knowledge scale developed by Clinseq, an established 11-item questionnaire consisting of two subscales assessing benefits and limitations of genome sequencing. Responses are on a five-point Likert scale ranging from strongly agree to strongly disagree, with responses being assigned a value of 1-5. Higher knowledge score indicates a higher level of knowledge.
Time frame: Assessed at baseline, after first platform use (for intervention only) and at 0, 2 and 4 weeks of receiving genetic test results for both study arms.
Decisional Conflict
Decisional conflict is measured by the SURE screening test. It is a 4-item tool to assess decisional conflict in patients, developed by Légaré et al. Each item is scored as a yes (1) or no (0), and a total score is calculated by summing all items. A score less than 4 indicates the probability that a patient experiences clinically significant decisional conflict.
Time frame: Assessed after first platform use for the intervention arm only and at 0, 2 and 4 weeks of receiving genetic test results for both study arms.
Anxiety and Depression Scale
Assessed using the 14 item Hospital Anxiety and Depression Scale (HADS). HADS has an Anxiety subscale and a Depression subscale, each with 7 questions. Add the scores of each of the 7 questions of the Anxiety subscale for a total score on the Anxiety subscale. Add the scores of each of the 7 questions of the Depression subscale for a total score on the Depression subscale. Scores range, 0-21 on each subscale; score \> 10 indicates clinical anxiety or depression; scores 8-10 indicate "borderline" anxiety or depression.
Time frame: Assessed at baseline, after first platform use (for intervention only) and at 0, 2 and 4 weeks of receiving genetic test results for both study arms.
Quality of Life (SF-12)
Physical and mental health measured using the 12-item short-form health survey (SF-12) scales.
Time frame: Assessed at baseline, after first platform use (for intervention only) and at 0, 2 and 4 weeks of receiving genetic test results for both study arms.
Intended Behavioral Change
We will assess the intended use and actual adoption of risk-reducing behaviors and preventative services across all RCT participants using CDC's Behavioral Risk Factor Surveillance System (BRFSS) questionnaire. We have adapted the BFRSS to examine whether the receipt of GS results influences participants' intent to adopt, and actual self-reported adoption of: screening, prophylactic surgery, dietary changes, reduced alcohol intake, increased exercise, adherence/changes to medication, and smoking cessation (beyond those taken due to their cancer diagnosis). Self-reported actual or intended use of these behaviors will be ascertained over the telephone. Higher scores indicate higher uptake of health behaviors.
Time frame: At 2 and 4 weeks of receiving genetic test results for both study arms.
Digital Health Literacy
Measured by eHeals, the eHealth Literacy 8-item scale. Each item in the eHEALS uses a 5-point Likert scale to answer each question with response options ranging from "strongly agree" to "strongly disagree". The lowest score for any person was eight, and the highest score was 40. Higher scores indicate higher eHealth literacy skills.
Time frame: Assessed at baseline for both study arms.
BRIEF Health Literacy Screening Tool (BRIEF)
BREIF is a 4-item scale used to assess health literacy. Each item is quantified using a 5-point scale (1-5) with higher scores indicating higher health literacy.
Time frame: Assessed at baseline for both study arms.
Satisfaction with Genetics Education
Satisfaction with genetics education will be assessed using items adapted from PMID: 28791521. Participants will rate clarity, helpfulness, and overall satisfaction with the education format using Likert-scale questions (e.g., 1 = very dissatisfied to 5 = very satisfied). Scores will be summed, with higher scores indicating greater satisfaction.
Time frame: Assessed after first platform use (for intervention only) and immediately after return of results for both study arms.
Empowerment
Patient empowerment is measured using the a shorter version of the Genetic Counselling Outcome Scale (GCOS-24), called Genomics Outcome Scale (GOS). The scale uses 6 patient reported outcome measure items to evaluate genetic counselling and testing services. Each item is scored on a 5-point scale and the final score is calculated by summing all items. Each of the 6 items in the measure is rated on a 7-point Likert scale ranging from 1 (strongly disagree) to 7 (strongly agree) with possible total scores ranging from 6 to 42. A higher score indicates greater empowerment. (PMID: 30496830)
Time frame: Assessed after first platform use (intervention only) and at 0, 2 and 4 weeks of receiving genetic test results for both study arms.
Acceptability
Acceptability e-scale: brief questionnaire used to evaluate users' acceptance and satisfaction with a genetics web application, including its ease of use, usefulness, clarity, and overall user experience.
Time frame: Assessed after first platform use and immediately after receiving results from the platform for intervention arm only.
Clinician time preparing for the session, counseling and post-session
Measure of total time spent preparing for the genetic counselling session, time with the Genetic Counselor in the counselling session and time spent preparing letters and chart notes after the session.
Time frame: Collected at 2-weeks post-test result disclosure by the clinician for both study arms.
Duration of platform session
Measure of total time spent using the digital platform.
Time frame: Assessed after first platform use and at 0, 2 and 4 weeks of receiving genetic test results for intervention arm only.
Frequency of platform use
Measure of the number of times the digital platform was accessed by the participant using
Time frame: Assessed after first platform use and at 0, 2 and 4 weeks of receiving genetic test results for intervention arm only.
Qualitative interviews with a subset of participants
We will use in-depth interviews with patients to provide further insights into the delivery and support of genetic services. Interviews will consider participants' socio-demographic factors that may influence their informational, decisional, and follow-up needs as well as how they engage with genetic information, participate in shared decision making, and manage genetic test results.
Time frame: Within 6 months of completing the study
Plan to share: Yes — 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.
Supporting information: Study protocol, Statistical analysis plan, Informed consent form
Time frame: For 5 years after study has been completed and the trial 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 sharing details ↗ · research.unityhealth.to
No publications or documents are linked to this record.
Start is estimated for Jan 2027; primary completion for May 2028, 16 months later.
Of 64 non-industry interventional studies with no phase under Genetic Diseases, Inborn, half reached primary completion within 41 months of starting (the median), counting those still running; a quarter within 22 and three quarters within 60. This study's planned 16 months is below that.
Counting every sponsor, half of 66 studies reached it within 41 months; a quarter within 22 and three quarters within 60.
How these figures are worked out, and which studies are left out of them.
This study is not yet recruiting, as verified in Aug 2026. You cannot join it, but the record below documents what was studied.
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