{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T02:32:29Z","timestamp":1771986749845,"version":"3.50.1"},"reference-count":68,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"unspecified","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000037","name":"Institute of Health Services and Policy Research","doi-asserted-by":"publisher","award":["Team Grant \/ PHT 178433"],"award-info":[{"award-number":["Team Grant \/ PHT 178433"]}],"id":[{"id":"10.13039\/501100000037","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2024,8,21]]},"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:sec>\n                  <jats:title>Introduction<\/jats:title>\n                  <jats:p>Genetic 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and analysis<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Ethics and dissemination<\/jats:title>\n                  <jats:p>This study was approved by Clinical Trials Ontario. Results will be shared through stakeholder workshops, national and international conferences and peer-reviewed journals.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Trial registration number<\/jats:title>\n                  <jats:p>\n                     <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"clintrialgov\" xlink:href=\"NCT06455384\">NCT06455384<\/jats:ext-link>.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/bmjopen-2024-090084","type":"journal-article","created":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T01:10:37Z","timestamp":1725412237000},"page":"e090084","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations"],"prefix":"10.1136","volume":"14","clinical-trial-number":[{"clinical-trial-number":"nct06455384","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1068-3154","authenticated-orcid":false,"given":"Guylaine","family":"D'Amours","sequence":"first","affiliation":[{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael\u2019s Hospital, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Clausen","sequence":"additional","affiliation":[{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael\u2019s Hospital, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Luca","sequence":"additional","affiliation":[{"name":"Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Reble","sequence":"additional","affiliation":[{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael\u2019s Hospital, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Kodida","sequence":"additional","affiliation":[{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael\u2019s Hospital, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8124-3247","authenticated-orcid":false,"given":"Daniel","family":"Assamad","sequence":"additional","affiliation":[{"name":"Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francois","family":"Bernier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0468-6663","authenticated-orcid":false,"given":"Lauren","family":"Chad","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada"},{"name":"Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory","family":"Costain","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irfan","family":"Dhalla","sequence":"additional","affiliation":[{"name":"Care Experience Institute, Unity Health Toronto, Toronto, Ontario, Canada"},{"name":"Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Faghfoury","sequence":"additional","affiliation":[{"name":"Fred A. 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