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 Article Swipe
Kaitlin Stanley
,
Caitlin Chisholm
,
Meredith Gillespie
,
Oana Caluseriu
,
Nicola Signore
,
Sonya Elango
,
Taila Hartley
,
Stacy Hewson
,
Raymond H. Kim
,
Gordon McSheffrey
,
Roberto Mendoza‐Londono
,
Sarah L. Sawyer
,
Martin J. Somerville
,
Viji Venkataramanan
,
Alexandre White‐Brown
,
Stephanie Telesca
,
Salma Shickh
,
Christian R. Marshall
,
Wendy J. Ungar
,
Robin Z. Hayeems
,
Jasmin Bhawra
,
Kym M. Boycott
,
Gregory Costain
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1136/bmjopen-2025-107603
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1136/bmjopen-2025-107603
Introduction Rare diseases (RD) are collectively common and often genetic. Families value and can benefit from precise molecular diagnoses. Prolonged diagnostic odysseys exacerbate the burden of RD on patients, families and the healthcare system. Genome sequencing (GS) is a near-comprehensive test for genetic RD, but existing care models—where consultation with a medical geneticist is a prerequisite for testing—predate GS and may limit access or delay diagnosis. Evidence is needed to guide the optimal positioning of GS in care pathways. While initiating GS prior to geneticist consultation has been trialled in acute care settings, there are no data to inform the utility of this approach in outpatient care, where most patients with RD seek genetics services. We aim to evaluate the diagnostic yield, time to diagnosis, clinical and personal utility and incremental cost-effectiveness of GS initiated at the time of referral triage (pre-geneticist evaluation) compared with standard of care. Methods and analysis 200 paediatric patients referred to one of two large genetics centres in Ontario, Canada, for suspected genetic RD will be randomised into a 1:1 ratio to the intervention (GS first) or standard of care (geneticist first) arm. An unblinded, permuted block randomisation design will be used, stratified within each recruitment site by phenotype and prior genetic testing. The primary outcome measure is time to genetic diagnosis or to cessation of active follow-up. Survival analysis will be used to analyse time-to-event data. Additional measures will include patient-reported and family-reported measures of satisfaction, understanding and perceived test utility, clinician-reported measures of perceived test utility and management impact, and healthcare system utilisation and costs. Ethics and dissemination This study was approved by Clinical Trials Ontario. Results will be disseminated, at minimum, via peer-reviewed journals, professional conferences and internal reports to funding bodies. Efforts will be made to share aggregated study results with participants and their families. Trial registration number NCT06935019 .
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1136/bmjopen-2025-107603
- OA Status
- gold
- References
- 65
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4413099863
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4413099863Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1136/bmjopen-2025-107603Digital Object Identifier
- Title
-
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticistWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-08-01Full publication date if available
- Authors
-
Kaitlin Stanley, Caitlin Chisholm, Meredith Gillespie, Oana Caluseriu, Nicola Signore, Sonya Elango, Taila Hartley, Stacy Hewson, Raymond H. Kim, Gordon McSheffrey, Roberto Mendoza‐Londono, Sarah L. Sawyer, Martin J. Somerville, Viji Venkataramanan, Alexandre White‐Brown, Stephanie Telesca, Salma Shickh, Christian R. Marshall, Wendy J. Ungar, Robin Z. Hayeems, Jasmin Bhawra, Kym M. Boycott, Gregory CostainList of authors in order
- Landing page
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https://doi.org/10.1136/bmjopen-2025-107603Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1136/bmjopen-2025-107603Direct OA link when available
- Concepts
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Geneticist, Medicine, Referral, Triage, Genetic testing, Medical diagnosis, Genetic counseling, Medical genetics, Family medicine, Pediatrics, Medical emergency, Internal medicine, Genetics, Pathology, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- References (count)
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65Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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