Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada
28 sierpnia 2026 zaktualizowane przez: 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.
Przegląd badań
Status
Jeszcze nie rekrutacja
Warunki
Interwencja / Leczenie
Typ studiów
Obserwacyjny
Zapisy (Szacowany)
100
Kontakty i lokalizacje
Ta sekcja zawiera dane kontaktowe osób prowadzących badanie oraz informacje o tym, gdzie badanie jest przeprowadzane.
Kontakt w sprawie studiów
- Nazwa: Erin Hsue, HBSc, MHSc
- Numer telefonu: 414638 416-813-7654
- E-mail: grip.study@sickkids.ca
Kryteria uczestnictwa
Badacze szukają osób, które pasują do określonego opisu, zwanego kryteriami kwalifikacyjnymi. Niektóre przykłady tych kryteriów to ogólny stan zdrowia danej osoby lub wcześniejsze leczenie.
Kryteria kwalifikacji
Wiek uprawniający do nauki
- Dziecko
- Dorosły
- Starszy dorosły
Akceptuje zdrowych ochotników
Nie
Metoda próbkowania
Próbka bez prawdopodobieństwa
Badana populacja
All patients who have received genome-wide sequencing in Ontario
Opis
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
Plan studiów
Ta sekcja zawiera szczegółowe informacje na temat planu badania, w tym sposób zaprojektowania badania i jego pomiary.
Jak projektuje się badanie?
Szczegóły projektu
Kohorty i interwencje
Grupa / Kohorta |
Interwencja / Leczenie |
|---|---|
|
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)
|
Co mierzy badanie?
Podstawowe miary wyniku
Miara wyniku |
Opis środka |
Ramy czasowe |
|---|---|---|
|
Diagnostic utility
Ramy czasowe: 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
|
Miary wyników drugorzędnych
Miara wyniku |
Opis środka |
Ramy czasowe |
|---|---|---|
|
Acceptability
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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)
Ramy czasowe: 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
|
Współpracownicy i badacze
Tutaj znajdziesz osoby i organizacje zaangażowane w to badanie.
Sponsor
Śledczy
- Główny śledczy: Robin Z Hayeems, ScM, PhD, The Hospital for Sick Children
Daty zapisu na studia
Daty te śledzą postęp w przesyłaniu rekordów badań i podsumowań wyników do ClinicalTrials.gov. Zapisy badań i zgłoszone wyniki są przeglądane przez National Library of Medicine (NLM), aby upewnić się, że spełniają określone standardy kontroli jakości, zanim zostaną opublikowane na publicznej stronie internetowej.
Główne daty studiów
Rozpoczęcie studiów (Szacowany)
1 września 2026
Zakończenie podstawowe (Szacowany)
31 sierpnia 2027
Ukończenie studiów (Szacowany)
31 sierpnia 2027
Daty rejestracji na studia
Pierwszy przesłany
18 sierpnia 2026
Pierwszy przesłany, który spełnia kryteria kontroli jakości
28 sierpnia 2026
Pierwszy wysłany (Rzeczywisty)
2 września 2026
Aktualizacje rekordów badań
Ostatnia wysłana aktualizacja (Rzeczywisty)
2 września 2026
Ostatnia przesłana aktualizacja, która spełniała kryteria kontroli jakości
28 sierpnia 2026
Ostatnia weryfikacja
1 sierpnia 2026
Więcej informacji
Terminy związane z tym badaniem
Słowa kluczowe
Dodatkowe istotne warunki MeSH
Inne numery identyfikacyjne badania
- CTO #5637
- KMI 181800 (Inny numer grantu/finansowania: Canadian Institutes of Health Research (CIHR))
Plan dla danych uczestnika indywidualnego (IPD)
Planujesz udostępniać dane poszczególnych uczestników (IPD)?
NIE
Informacje o lekach i urządzeniach, dokumenty badawcze
Bada produkt leczniczy regulowany przez amerykańską FDA
Nie
Bada produkt urządzenia regulowany przez amerykańską FDA
Nie
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