Genetic ConditionsTRIAGE-GSNCT06935019
TRIAGE-GS: Towards Reducing Inefficiencies Affecting Genetics Encounters Through Genome Sequencing
A study testing Genome sequencing pre-geneticist evaluation in people with Genetic Conditions, run by The Hospital for Sick Children at 2 sites in Canada.
Trial summary
Individually rare genetic diseases are collectively common, and affect many Canadian families. Making the right diagnosis is both important and challenging. Healthcare providers and families often remain in the dark for too long, limited by the scope and speed of current genetic testing. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Genetic Conditions
- What is being tested?
- Genome sequencing pre-geneticist evaluation
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 200 participants
- Where
- 2 sitesCanada
- Study dates
- 14 May 2025to May 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Referral accepted to the Genetics Clinic at SickKids or CHEO within 7 days of screening for study eligibility.
- Referral is for a patient that is ≤18 years old.
- Reason for referral is a suspected but as-yet-undiagnosed RD
- A genetic aetiology is a possible explanation for the phenotype such that genetic testing is likely to be offered in Genetics Clinic, as determined by the research team.
Who cannot join
- Patient has a known or suspected clinical diagnosis using established criteria of a genetic condition with low locus heterogeneity (e.g., HHT, fCCM, NF1, TSC, others)
- Referral considered "Urgent" using established site criteria.
- Genome-wide sequencing (exome sequencing or GS) or a comprehensive panel that encompasses all genes relevant for the reported phenotype previously completed on a clinical or research basis.
- Patient or family member previously assessed by a medical geneticist within the last 2 years for the same phenotype(s).
- Patient lacks Ontario Health Insurance Plan (OHIP) or comparable coverage (as this will limit options for standard genetic testing).
- Referral is solely to facilitate familial variant testing or for genetic counselling.
- A family member is already enrolled in the study and was referred for the same indication.
- Patient/family does not provide informed consent to participate within 2 weeks of being approached.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Canada2 sites
Children's Hospital of Eastern Ontario
Ottawa, Ontario, K1H 5B2
The Hospital for Sick Children
Toronto, Ontario, M5G 0A4
About this study
Official title: TRIAGE-GS: A Randomized Controlled Trial of a Genomics-first Approach to Rare Disease Diagnosis
Individually rare genetic diseases are collectively common, and affect many Canadian families. Making the right diagnosis is both important and challenging. Healthcare providers and families often remain in the dark for too long, limited by the scope and speed of current genetic testing.
The goal of this clinical trial is to learn if performing genome sequencing (a comprehensive genetic test) as soon as a rare genetic disease is suspected is more effective than usual care, where a person waits to see a genetics specialist and then typically gets offered more targeted testing. Researchers will compare a "genome-sequencing first" approach to the standard-of-care in individuals who were referred to the Genetics Clinic at either SickKids or CHEO and recently had their referral accepted by the clinic.
Read more
The main questions this clinical trial aims to answer are:
- Are there more and faster diagnoses with a "genome sequencing first" approach compared to standard-of-care?
- What do patients, families, and healthcare providers think about a "genome sequencing first" approach compared to standard-of-care?
- What is the financial impact of a "genome sequencing first" approach compared to standard-of-care on the healthcare system?
Participants will be asked to:
- Let us review their medical records.
- Complete up to 5 questionnaires over the course of the study.
- Give a blood sample for clinical genome sequencing (if in the genome sequencing first group).
This study aims to provide the robust evidence needed to improve care pathways for rare disease diagnosis in Canada. The findings also promise to help translate new genetic technologies into the clinic. Earlier diagnosis is a key first step towards personalized care, targeted treatments, and better outcomes.
Read the detailed description
This is a multi-centre, prospective, interventional, open randomized controlled trial that compares patient outcomes generated by clinical whole genome sequencing (GS) initiated at time of referral triage (i.e., prior to evaluation with a medical geneticist) to standard-of-care, where genetic testing is ordered post-evaluation. 200 individuals referred to SickKids or CHEO for suspected undiagnosed rare disease (RD) will be enrolled, along with their biological parents when possible. The purpose of this study is to examine the safety, utility, and feasibility of a "genomics first" diagnostic pathway for RD. The investigators hypothesize that a GS-first pathway will have non-inferior diagnostic yield and lead to a shorter duration of time to RD diagnosis, fewer diagnostics-focused clinic visits, and improved stakeholder satisfaction.
- Conditions
- Genetic Conditions
- Being tested
- Genome sequencing pre-geneticist evaluation
- Keywords
- TRIAGE-GS
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genome sequencing pre-geneticist evaluationGenetic
The intervention is receiving immediate clinical routine GS, prior to evaluation by a medical geneticist. Pre-test counselling will be done by a research genetic counsellor. Results of GS will be returned during the participant's first visit to Genetics Clinic by their clinical team. Subsequent clinical care (including any other clinically indicated genetic testing or workup) will be arranged by the medical geneticist in clinic.
| Study group | Role | What they receive |
|---|---|---|
| GS-first arm | Experimental | The intervention is receiving immediate clinical routine GS, prior to evaluation by a medical geneticist. Pre-test counselling will be done by a research genetic counsellor. Results of GS will be returned during the participant's first visit to Genetics Clinic by their clinical team. Subsequent clinical care (including any other clinically indicated genetic testing or workup) will be arranged by the medical geneticist in clinic. Receives: Genetic: Genome sequencing pre-geneticist evaluation |
| Standard-of-care arm | No intervention | The intervention group will be compared to the standard-of-care group, where evaluation by a medical geneticist in Genetics Clinic is a prerequisite to ordering of genetic testing. Clinical workups and genetic testing are ordered at the discretion of the medical geneticist involved in their clinical care, following evaluation. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Determine the time-to-event (diagnosis or no active follow-up) of a GS-first (pre-geneticist evaluation) outpatient care model for rare disease compared to standard of care.
The primary outcome measure for Aim 1 is a time-to-event variable. The event of interest is "diagnosis or no active follow-up," as measured for each participant from the date of randomization to the date of disclosure of the diagnosis/plan. Selection of a composite event variable was based on input from patients, families, and clinicians regarding the utility of negative GS results in certain scenarios. For example, a negative GS result might lower the index of suspicion for Mendelian disorders of known genetic basis, such that no further testing or short-term follow-up is recommended, or a clinical diagnosis of exclusion is made with confidence.
Measured: From date of randomization until the date of the disclosure of diagnosis/plan, up to 18 months.
Compare clinical utility of GS-first to standard of care from the perspectives of care teams.
The main outcome for Aim 2 will be differences in C-GUIDE total score, comparing the perceived utility of GS (in the GS-first group) with the first genetic test initiated by the geneticist for participants in the standard-of-care group.
Measured: 0-2 weeks after the first results disclosure to the participant/family.
Compare personal utility of GS-first to standard-of-care from the perspectives of patients, families, and care teams.
The other main outcome for Aim 2 will be differences in GENE-U total score, comparing the perceived utility of GS (in the GS-first group) with the first genetic test initiated by the geneticist for participants in the standard-of-care group.
Measured: 0-2 weeks after the first results disclosure to the participant/family.
Assess cost-effectiveness as the incremental cost per additional case detected for GS-first compared to standard-of-care from a healthcare system payer perspective.
An incremental cost-effectiveness analysis (CEA) that compares GS-first to standard-of-care per additional positive finding will be undertaken from the perspectives of the healthcare system and society. The economic evaluation will use recommended methods.
Measured: Overall during the study period (up to 18 months).
Secondary outcomes (10)
Primary diagnostic yield
Measured: Overall during the study period (up to 18 months), and within a 6-month time interval from the date of randomization.
Proportion of participants with dual diagnoses
Measured: Overall during the study period (up to 18 months).
Proportion of participants with partial genetic diagnoses
Measured: Overall during the study period (up to 18 months).
Proportion of participants with potential genetic diagnoses
Measured: Overall during the study period (up to 18 months).
Proportion of participants with variants of uncertain significance deemed non-contributory by the clinician
Measured: Overall during the study period (up to 18 months).
Proportion of participants with secondary/incidental findings
Measured: Overall during the study period (up to 18 months).
Number of new informative HPO terms coded after evaluation by a geneticist (compared with data extracted from collateral records at the time of the referral)
This can be stratified by the original referral source (i.e., internal referrals from providers at SickKids/CHEO vs. referrals from external providers).
Measured: Overall during the study period (up to 18 months).
Differences in amount of time/effort required for reporting genome sequencing
Including time recorded by the analyst, number/type of variants unnecessarily reported due to incomplete phenotypic information, etc.
Measured: Overall during the study period (up to 18 months).
Number of diagnoses missed by GS in the intervention arm that were later made after geneticist evaluation
Including variants seen by GS that were not reported based on phenotypic information known prior to geneticist assessment, variants identified on reanalysis using new HPO terms entered post-geneticist assessment, or variant types (e.g., repeat expansions) that were missed by GS due to technical limitations, etc.
Measured: Overall during the study period (up to 18 months).
Incremental cost per unit improvement in C-GUIDE score
A secondary analysis under the CEA will examine the incremental cost per unit improvement in C-GUIDE score
Measured: Overall during the study period (up to 18 months).
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Apr 2025
- Study start14 May 2025
- Primary completionDec 2026 (estimated)
- Study completionMay 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Genetic ConditionsStudies of the same condition, open and under way.
- More trials run by The Hospital for Sick ChildrenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Hospital for Sick Children
- Sponsor type
- University, hospital or other
- Collaborators
- Children's Hospital of Eastern Ontario, Toronto Metropolitan University, Ottawa Hospital Research Institute
- Responsible party
- Principal investigator, Gregory Costain, The Hospital for Sick Children
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06935019
- Sponsor's protocol ID
- CTO5061
- Acronym
- TRIAGE-GS
- Status last verified
- Apr 2026
- First submitted
- 28 Mar 2025
- Last updated
- 24 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Study protocol, including statistical analysis plan, and informed consent form template will be submitted for open-access publication. Individual participant data can be shared upon request and execution of a data transfer agreement when consent was given by the participant or their substitute decision maker. Potentially identifying data (e.g., variable represented less than 5 times in the cohort) will not be shared.
Publications
Stanley KJ, Chisholm C, Gillespie MK, Caluseriu O, Del Signore N, Elango S, Hartley T, Hewson S, Kim RH, McSheffrey G, Mendoza-Londono R, Sawyer SL, Somerville M, Venkataramanan V, White-Brown A, Telesca S, Shickh S, Marshall CR, Ungar WJ, Hayeems RZ, Bhawra J, Boycott KM, Costain G. TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist. BMJ Open. 2025 Aug 10;15(8):e107603. doi: 10.1136/bmjopen-2025-107603.
PubMed 40784761
Study at a glance
From the registry record, last updated by the sponsor on 24 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- TRIAGE-GS: A Randomized Controlled Trial of a Genomics-first Approach to Rare Disease Diagnosis
- ClinicalTrials.gov ID
- NCT06935019
- Acronym / sponsor ID
- TRIAGE-GS / CTO5061
- Conditions
- Genetic Conditions
- Keywords
- TRIAGE-GS
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- The Hospital for Sick ChildrenUniversity, hospital or other
- Collaborators
- Children's Hospital of Eastern Ontario, Toronto Metropolitan University, Ottawa Hospital Research Institute
- Study start
- 14 May 2025 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- May 2028 (estimated)
- First posted
- 18 Apr 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Individually rare genetic diseases are collectively common, and affect many Canadian families. Making the right diagnosis is both important and challenging. Healthcare providers and families often remain in the dark for too long, limited by the scope and speed of current genetic testing.
The goal of this clinical trial is to learn if performing genome sequencing (a comprehensive genetic test) as soon as a rare genetic disease is suspected is more effective than usual care, where a person waits to see a genetics specialist and then typically gets offered more targeted testing. Researchers will compare a "genome-sequencing first" approach to the standard-of-care in individuals who were referred to the Genetics Clinic at either SickKids or CHEO and recently had their referral accepted by the clinic.
The main questions this clinical trial aims to answer are:
- Are there more and faster diagnoses with a "genome sequencing first" approach compared to standard-of-care?
- What do patients, families, and healthcare providers think about a "genome sequencing first" approach compared to standard-of-care?
- What is the financial impact of a "genome sequencing first" approach compared to standard-of-care on the healthcare system?
Participants will be asked to:
- Let us review their medical records.
- Complete up to 5 questionnaires over the course of the study.
- Give a blood sample for clinical genome sequencing (if in the genome sequencing first group).
This study aims to provide the robust evidence needed to improve care pathways for rare disease diagnosis in Canada. The findings also promise to help translate new genetic technologies into the clinic. Earlier diagnosis is a key first step towards personalized care, targeted treatments, and better outcomes.
Detailed description
This is a multi-centre, prospective, interventional, open randomized controlled trial that compares patient outcomes generated by clinical whole genome sequencing (GS) initiated at time of referral triage (i.e., prior to evaluation with a medical geneticist) to standard-of-care, where genetic testing is ordered post-evaluation. 200 individuals referred to SickKids or CHEO for suspected undiagnosed rare disease (RD) will be enrolled, along with their biological parents when possible. The purpose of this study is to examine the safety, utility, and feasibility of a "genomics first" diagnostic pathway for RD. The investigators hypothesize that a GS-first pathway will have non-inferior diagnostic yield and lead to a shorter duration of time to RD diagnosis, fewer diagnostics-focused clinic visits, and improved stakeholder satisfaction.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| GS-first arm | Experimental | Genetic: Genome sequencing pre-geneticist evaluationThe intervention is receiving immediate clinical routine GS, prior to evaluation by a medical geneticist. Pre-test counselling will be done by a research genetic counsellor. Results of GS will be returned during the participant's first visit to Genetics Clinic by their clinical team. Subsequent clinical care (including any other clinically indicated genetic testing or workup) will be arranged by the medical geneticist in clinic. |
| Standard-of-care arm | No intervention | –The intervention group will be compared to the standard-of-care group, where evaluation by a medical geneticist in Genetics Clinic is a prerequisite to ordering of genetic testing. Clinical workups and genetic testing are ordered at the discretion of the medical geneticist involved in their clinical care, following evaluation. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (4 listed)
- Referral accepted to the Genetics Clinic at SickKids or CHEO within 7 days of screening for study eligibility.
- Referral is for a patient that is ≤18 years old.
- Reason for referral is a suspected but as-yet-undiagnosed RD
- A genetic aetiology is a possible explanation for the phenotype such that genetic testing is likely to be offered in Genetics Clinic, as determined by the research team.
Key exclusion criteria (8 listed)
- Patient has a known or suspected clinical diagnosis using established criteria of a genetic condition with low locus heterogeneity (e.g., HHT, fCCM, NF1, TSC, others)
- Referral considered "Urgent" using established site criteria.
- Genome-wide sequencing (exome sequencing or GS) or a comprehensive panel that encompasses all genes relevant for the reported phenotype previously completed on a clinical or research basis.
- Patient or family member previously assessed by a medical geneticist within the last 2 years for the same phenotype(s).
- Patient lacks Ontario Health Insurance Plan (OHIP) or comparable coverage (as this will limit options for standard genetic testing).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genome sequencing pre-geneticist evaluationThe intervention is receiving immediate clinical routine GS, prior to evaluation by a medical geneticist. Pre-test counselling will be done by a research genetic counsellor. Results of GS will be returned during the participant's first visit to Genetics Clinic by their clinical team. Subsequent clinical care (including any other clinically indicated genetic testing or workup) will be arranged by the medical geneticist in clinic. | Genetic | GS-first arm |
Primary outcome
Determine the time-to-event (diagnosis or no active follow-up) of a GS-first (pre-geneticist evaluation) outpatient care model for rare disease compared to standard of care.
Time frame: From date of randomization until the date of the disclosure of diagnosis/plan, up to 18 months.
The primary outcome measure for Aim 1 is a time-to-event variable. The event of interest is "diagnosis or no active follow-up," as measured for each participant from the date of randomization to the date of disclosure of the diagnosis/plan. Selection of a composite event variable was based on input from patients, families, and clinicians regarding the utility of negative GS results in certain scenarios. For example, a negative GS result might lower the index of suspicion for Mendelian disorders of known genetic basis, such that no further testing or short-term follow-up is recommended, or a clinical diagnosis of exclusion is made with confidence.
Compare clinical utility of GS-first to standard of care from the perspectives of care teams.
Time frame: 0-2 weeks after the first results disclosure to the participant/family.
The main outcome for Aim 2 will be differences in C-GUIDE total score, comparing the perceived utility of GS (in the GS-first group) with the first genetic test initiated by the geneticist for participants in the standard-of-care group.
Compare personal utility of GS-first to standard-of-care from the perspectives of patients, families, and care teams.
Time frame: 0-2 weeks after the first results disclosure to the participant/family.
The other main outcome for Aim 2 will be differences in GENE-U total score, comparing the perceived utility of GS (in the GS-first group) with the first genetic test initiated by the geneticist for participants in the standard-of-care group.
Assess cost-effectiveness as the incremental cost per additional case detected for GS-first compared to standard-of-care from a healthcare system payer perspective.
Time frame: Overall during the study period (up to 18 months).
An incremental cost-effectiveness analysis (CEA) that compares GS-first to standard-of-care per additional positive finding will be undertaken from the perspectives of the healthcare system and society. The economic evaluation will use recommended methods.
10 secondary outcomes
Primary diagnostic yield
Time frame: Overall during the study period (up to 18 months), and within a 6-month time interval from the date of randomization.
Proportion of participants with dual diagnoses
Time frame: Overall during the study period (up to 18 months).
Proportion of participants with partial genetic diagnoses
Time frame: Overall during the study period (up to 18 months).
Proportion of participants with potential genetic diagnoses
Time frame: Overall during the study period (up to 18 months).
Proportion of participants with variants of uncertain significance deemed non-contributory by the clinician
Time frame: Overall during the study period (up to 18 months).
Proportion of participants with secondary/incidental findings
Time frame: Overall during the study period (up to 18 months).
Number of new informative HPO terms coded after evaluation by a geneticist (compared with data extracted from collateral records at the time of the referral)
Time frame: Overall during the study period (up to 18 months).
Differences in amount of time/effort required for reporting genome sequencing
Time frame: Overall during the study period (up to 18 months).
Number of diagnoses missed by GS in the intervention arm that were later made after geneticist evaluation
Time frame: Overall during the study period (up to 18 months).
Incremental cost per unit improvement in C-GUIDE score
Time frame: Overall during the study period (up to 18 months).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Apr 2026.
- Derived from this study: PubMed 40784761Stanley KJ, Chisholm C, Gillespie MK, Caluseriu O, Del Signore N, Elango S, Hartley T, Hewson S, Kim RH, McSheffrey G, Mendoza-Londono R, Sawyer SL, Somerville M, Venkataramanan V, White-Brown A, Telesca S, Shickh S, Marshall CR, Ungar WJ, Hayeems RZ, Bhawra J, Boycott KM, Costain G. TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist. BMJ Open. 2025 Aug 10;15(8):e107603. doi: 10.1136/bmjopen-2025-107603.
- Individual participant dataSharing planned: Yes. Study protocol, including statistical analysis plan, and informed consent form template will be submitted for open-access publication. Individual participant data can be shared upon request and execution of a data transfer agreement when consent was given by the participant or their substitute decision maker. Potentially identifying data (e.g., variable represented less than 5 times in the cohort) will not be shared.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genome sequencing pre-geneticist evaluation in people with Genetic Conditions, run by The Hospital for Sick Children at 2 sites in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 24 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determine the time-to-event (diagnosis or no active follow-up) of a GS-first (pre-geneticist evaluation) outpatient care model for rare disease compared to standard of care. (time frame: From date of randomization until the date of the disclosure of diagnosis/plan, up to 18 months.). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06935019, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Apr 2026.