Evidence map›Paper›PMID 39231549›Full record

ArticleBMJ open2024

Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.

Guylaine D'Amours, Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Daniel Assamad, Francois Bernier, Lauren Chad, Gregory Costain, Irfan Dhalla and 26 more

2 registry-linked trialsAbstract readClinical Trial Protocol
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT06455384 narecruitingnot on this mapstarted 2025, after this paper: background citation

The Genetics Navigator: Evaluating a Digital Platform for Genomics Health Services

TypeinterventionalSponsorUnity Health TorontoRan2025 to 2027Enrolled170ConditionsCardiac Conditions, Connective Tissue Diseases, Retinal Disease, Epilepsy in ChildrenArmsGenetics Navigator, Standard Care with Genetics Professionals
NCT07474584 nanot yet recruitingnot on this mapstarted 2026, after this paper: background citation

The OpRESTORE AI-Patient Navigator Study: Developing and Testing an AI-enhanced Patient Navigator for UK Veterans With Service-related Physical Health Problems

TypeinterventionalSponsorImperial College Healthcare NHS TrustRan2026 to 2028Enrolled1,389ConditionsVeteranArmsAI-OpRESTORE healthcare navigator, OpRESTORE healthcare navigation
3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

36 authors.

Guylaine D'AmoursGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.ORCID 0000-0002-1068-3154
Marc ClausenGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
Stephanie LucaProgram in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
Emma RebleGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
Rita KodidaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
Daniel AssamadProgram in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0001-8124-3247
Francois BernierDepartment of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
Lauren ChadDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0003-0468-6663
Gregory CostainDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Irfan DhallaCare Experience Institute, Unity Health Toronto, Toronto, Ontario, Canada.
Hanna FaghfouryFred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, Ontario, Canada.
Jan M FriedmanDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
Stacy HewsonDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Trevor JamiesonDepartment of Medicine, University of Toronto, Toronto, Ontario, Canada.
Josh SilverDepartment of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Cheryl ShumanDepartment of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Matthew OsmondChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
June C CarrollDepartment of Family Medicine, Sinai Health, Toronto, Ontario, Canada.
Rebekah JoblingDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Anne-Marie LabergeDivision of Medical Genetics, CHU Sainte-Justine, Montreal, Québec, Canada.
Melyssa AronsonDepartment of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Eriskay ListonDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jordan Lerner-EllisPathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.ORCID 0000-0003-3685-5679
Christian MarshallDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Michael BrudnoHPC4Health Consortium, Toronto, Ontario, Canada.
Quynh PhamInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-0540-4181
Frank RudziczFaculty of Computer Science, Dalhousie University, Halifax, Nova Scotia, Canada.ORCID 0000-0002-1139-3423
Ronald CohnDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Muhammad MamdaniDepartment of Data Science and Advanced Analytics, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
Maureen SmithPatient Partner, Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.
Serena Shastri-EstradaDepartment of Occupational Science and Occupational Therapy, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Emily SetoInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-8723-5915
Kevin ThorpeDalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-7586-3893
Wendy UngarProgram in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
Robin Z HayeemsProgram in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0003-3269-8004
Yvonne BombardGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada yvonne.bombard@utoronto.ca.ORCID 0000-0002-9516-4539

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionGenetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models are needed; e-health tools represent scalable and evidence-based solution. We aim to evaluate the effectiveness of the Genetics Navigator, an interactive patient-centred digital platform that supports the collection of medical and family history, provision of pregenetic and postgenetic counselling and return of genetic testing results across paediatric and adult settings. METHODS AND ANALYSIS: We will evaluate the effectiveness of the Genetics Navigator combined with usual care by a genetics clinician (physician or counsellor) to usual care alone in a randomised controlled trial. One hundred and thirty participants (adults patients or parents of paediatric patients) eligible for genetic testing through standard of care will be recruited across Ontario genetics clinics. Participants randomised into the intervention arm will use the Genetics Navigator for pretest and post-test genetic counselling and results disclosure in conjunction with their clinician. Participants randomised into the control arm will receive usual care, that is, clinician-delivered pretest and post-test genetic counselling, and results disclosure. The primary outcome is participant distress 2 weeks after test results disclosure. Secondary outcomes include knowledge, decisional conflict, anxiety, empowerment, quality of life, satisfaction, acceptability, digital health literacy and health resource use. Quantitative data will be analysed using statistical hypothesis tests and regression models. A subset of participants will be interviewed to explore user experience; data will be analysed using interpretive description. A cost-effectiveness analysis will examine the incremental cost of the Navigator compared with usual care per unit reduction in distress or unit improvement in quality of life from public payer and societal perspectives. ETHICS AND DISSEMINATION: This study was approved by Clinical Trials Ontario. Results will be shared through stakeholder workshops, national and international conferences and peer-reviewed journals. TRIAL REGISTRATION NUMBER: NCT06455384.

Indexed as

Genetic CounselingAdultCanadaChildGenetic TestingHumansOntarioPatient NavigationQuality of LifeRandomized Controlled Trials as Topicdelivery of health care, integratedeHealthgeneticshealth servicesmethodsrandomized controlled trial

Identifiers

PMID39231549
PMCPMC11407190

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.