Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada
28. august 2026 oppdatert av: Robin Hayeems, The Hospital for Sick Children
Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada: Protocol for a Province-wide Hybrid Type 2 Implementation-effectiveness Trial
Genomic sequencing (GS) is increasingly recommended as a diagnostic test for patients with suspected genetic disorders, but access often remains limited to those referred to medical geneticists.
Enabling non-geneticist clinicians to access GS can expedite diagnoses for affected families and reduce burdens on the geneticist-led model of care.
Targeted implementation strategies are needed to empower non-geneticist clinicians to access GS, however data to inform these strategies are lacking.
To this end, the investigators have set out to carry out a prospective, hybrid implementation-effectiveness trial of mainstreamed clinical GWS in Ontario, Canada.
The study team will evaluate the laboratory, clinical, patient and implementation outcomes of the mainstreamed model of care.
Studieoversikt
Status
Har ikke rekruttert ennå
Forhold
Intervensjon / Behandling
Studietype
Observasjonsmessig
Registrering (Antatt)
100
Kontakter og plasseringer
Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.
Studiekontakt
- Navn: Erin Hsue, HBSc, MHSc
- Telefonnummer: 414638 416-813-7654
- E-post: grip.study@sickkids.ca
Deltakelseskriterier
Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Barn
- Voksen
- Eldre voksen
Tar imot friske frivillige
Nei
Prøvetakingsmetode
Ikke-sannsynlighetsprøve
Studiepopulasjon
All patients who have received genome-wide sequencing in Ontario
Beskrivelse
For intervention outcomes,
- All patients who have received genome-wide sequencing in Ontario are eligible
For implementation outcomes,
- All non-geneticist clinicians practicing in Ontario who have ordered genome-wide sequencing for their patients are eligible
- Caregivers of patients who have had genome-wide sequencing through a non-geneticist clinician in Ontario are eligible, caregivers must be over 18 years of age
Studieplan
Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.
Hvordan er studiet utformet?
Designdetaljer
Kohorter og intervensjoner
Gruppe / Kohort |
Intervensjon / Behandling |
|---|---|
|
Standard Arm
Patients receiving GWS through geneticists in Ontario
|
Delivery of genome-wide sequencing (encompasses all activities involved in pre-test and post-test including clinical assessment, ordering, consent, education, return of results, post-test management)
|
|
Intervention Arm 1
Patients receiving GWS through non-geneticists in Ontario
|
Delivery of genome-wide sequencing (encompasses all activities involved in pre-test and post-test including clinical assessment, ordering, consent, education, return of results, post-test management)
|
|
Intervention Arm 2
Patients receiving GWS through non-geneticist clinicians at designated sites in Ontario with additional implementation strategies
|
Delivery of genome-wide sequencing (encompasses all activities involved in pre-test and post-test including clinical assessment, ordering, consent, education, return of results, post-test management)
|
Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Diagnostic utility
Tidsramme: From January 2025 to August 2027
|
The proportion of causative, pathogenic or likely pathogenic genotypes in known disease genes.
This will be reported as the proportion of cases for whom diagnostic and partially diagnostic, and non-optional medically actionable secondary findings are identified at the time of primary analysis and re-analysis.
Proportion of cases for whom optional medically actionable secondary findings will also be reported, relative to the number of cases who opted to receive them.
|
From January 2025 to August 2027
|
Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Acceptability
Tidsramme: 12 months from enrolment
|
Satisfaction with Genome-wide Sequencing Ontario (GSO) intervention and implementation among ordering providers (geneticists and non-geneticists), GSO leadership, laboratory, patients and families.
This outcome will be measured using a team-developed questionnaire with a 5-point Likert scale with 1 indicating strongly disagree and 5 indicating strongly agree.
|
12 months from enrolment
|
|
Feasibility
Tidsramme: 12 months from enrolment
|
Fit and suitability for regular use by ordering providers.
This outcome will be measured using a team-developed questionnaire with a 5-point Likert scale with 1 indicating strongly disagree and 5 indicating strongly agree.
|
12 months from enrolment
|
|
Sustainability
Tidsramme: 12 months from enrolment
|
Sustainability is defined as the extent to which the Genome-wide Sequencing Ontario (GSO) service can be maintained within a clinical practice.
This outcome will be measured using a team-developed questionnaire with a 5-point Likert scale with 1 indicating strongly disagree and 5 indicating strongly agree.
|
12 months from enrolment
|
|
Timeliness
Tidsramme: From January 1, 2025 to August 31, 2027
|
Timeliness is defined as the time needed to reach a molecular diagnosis.
For routine cases, this will be reported as the proportion of cases for whom laboratory turnaround time is less than 12 weeks.
From a laboratory perspective timeliness will be measured as the number of weeks elapsed from sample accessioning to laboratory reporting, reported as the proportion of cases for whom laboratory turnaround time is less than 12 weeks.
The study team will also assess timeliness from the patient perspective using a patient experience questionnaire that addresses this dimension of care.
|
From January 1, 2025 to August 31, 2027
|
|
Cost-effectiveness
Tidsramme: From January 1, 2025 to August 31, 2027
|
The cost per case of community-based genetic service delivery will be measured.
This will include sessions with physicians and genetic counselors and laboratory sequencing costs.
Laboratory costs will be determined by updating existing microcost estimates of the laboratory workflow components for sequencing approaches.
If a comparative design is possible, a cost analysis will compare service delivery cost for non-geneticist clinicians compare to geneticist clinicians.
|
From January 1, 2025 to August 31, 2027
|
|
Adoption
Tidsramme: From January 1, 2025 to August 31, 2027
|
Adoption is defined as the total number of non-geneticist clinicians ordering Genome-wide Sequencing Ontario (GSO) for their patients, and total number of submitted cases per clinician, assessed through the GSO REDCap database.
|
From January 1, 2025 to August 31, 2027
|
|
Fidelity
Tidsramme: From January 1, 2025 to August 31, 2027
|
Fidelity is defined as adherence to the Genome-wide Sequencing Ontario (GSO) workflow (including form completion, use of appeal process), measured by time (in days) between when the GSO order is accessioned in the lab and when the order is processed and sent for sequencing.
|
From January 1, 2025 to August 31, 2027
|
|
Penetration
Tidsramme: From January 1, 2025 to August 31, 2027
|
Penetration is defined as the degree of integration within a service delivery system (i.e., proportion of eligible clinicians who offer genome-wide sequencing (GWS)).
This outcome will be measured by iteratively assessing the rate of requests for GWS based on total eligible clinicians.
This outcome will be reported based on practice characteristics of the requesting clinician (specialty, geography, years in practice, etc.).
|
From January 1, 2025 to August 31, 2027
|
|
Acceptability (to patients/families)
Tidsramme: From enrolment to August 31, 2027
|
Acceptability (to patients/families) is defined as the experiences of patients or their family members during their participation in the mainstreamed model of care.
This outcome will be measured using a team-developed questionnaire with a 5-point Likert scale with 1 indicating strongly disagree and 5 indicating strongly agree.
|
From enrolment to August 31, 2027
|
Samarbeidspartnere og etterforskere
Det er her du vil finne personer og organisasjoner som er involvert i denne studien.
Sponsor
Etterforskere
- Hovedetterforsker: Robin Z Hayeems, ScM, PhD, The Hospital for Sick Children
Studierekorddatoer
Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.
Studer hoveddatoer
Studiestart (Antatt)
1. september 2026
Primær fullføring (Antatt)
31. august 2027
Studiet fullført (Antatt)
31. august 2027
Datoer for studieregistrering
Først innsendt
18. august 2026
Først innsendt som oppfylte QC-kriteriene
28. august 2026
Først lagt ut (Faktiske)
2. september 2026
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
2. september 2026
Siste oppdatering sendt inn som oppfylte QC-kriteriene
28. august 2026
Sist bekreftet
1. august 2026
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
Ytterligere relevante MeSH-vilkår
Andre studie-ID-numre
- CTO #5637
- KMI 181800 (Annet stipend/finansieringsnummer: Canadian Institutes of Health Research (CIHR))
Plan for individuelle deltakerdata (IPD)
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