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Mainstreaming of clinical genetic testing: A conceptual framework.

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Title: Mainstreaming of clinical genetic testing: A conceptual framework.
Authors: Mackley MP; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: michael.mackley@sickkids.ca., Richer J; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada., Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON, Canada., Caluseriu O; Department of Medical Genetics, Medical Genetics Clinic, University of Alberta, Edmonton, AB, Canada., Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, BC, Canada., Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Bernier F; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Boswell-Patterson C; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada., Chard M; Discipline of Pediatrics, Faculty of Medicine, Memorial University, St. John's, NL, Canada., Costain G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Dyment D; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada., Eaton A; Department of Medical Genetics, Medical Genetics Clinic, University of Alberta, Edmonton, AB, Canada., Faghfoury H; Department of Medicine, Fred A Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and Toronto General Hospital, Toronto, ON, Canada., Frosk P; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Gillespie MK; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada., Goh ES; Clinical Genetics, Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Hayeems RZ; Program in Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada., Hashemi B; Division of Medical Genetics, Department of Paediatrics, Royal University Hospital, Saskatoon, SK, Canada., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Jackson M; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Laberge AM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada; Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC Canada., Limoges J; Faculty of Health Disciplines, Athabasca University, Athabasca, AB, Canada; Ontario Cancer Research Ethics Board, Ontario Institute for Cancer Research, Toronto, ON, Canada., Marshall C; Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada., McMillan H; Division of Neurology, Department of Pediatrics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada., Nelson TN; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and BC Women's Hospitals, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Osmond M; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada., Parboosingh J; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Penney L; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Prince B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Sawyer SL; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada., Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Thomas MA; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Turner L; Discipline of Pediatrics, Faculty of Medicine, Memorial University, St. John's, NL, Canada., Villeneuve-Cloutier N; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada., Hartley T; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada., Boycott KM; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Aug; Vol. 27 (8), pp. 101465. Date of Electronic Publication: 2025 May 22.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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  Data: Mainstreaming of clinical genetic testing: A conceptual framework.
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  Data: <searchLink fieldCode="AU" term="%22Mackley+MP%22">Mackley MP</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: michael.mackley@sickkids.ca.<br /><searchLink fieldCode="AU" term="%22Richer+J%22">Richer J</searchLink>; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Guerin+A%22">Guerin A</searchLink>; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Caluseriu+O%22">Caluseriu O</searchLink>; Department of Medical Genetics, Medical Genetics Clinic, University of Alberta, Edmonton, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Armstrong+L%22">Armstrong L</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Blood+KA%22">Blood KA</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Bernier+F%22">Bernier F</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Boswell-Patterson+C%22">Boswell-Patterson C</searchLink>; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Chard+M%22">Chard M</searchLink>; Discipline of Pediatrics, Faculty of Medicine, Memorial University, St. John's, NL, Canada.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Dyment+D%22">Dyment D</searchLink>; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Eaton+A%22">Eaton A</searchLink>; Department of Medical Genetics, Medical Genetics Clinic, University of Alberta, Edmonton, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Faghfoury+H%22">Faghfoury H</searchLink>; Department of Medicine, Fred A Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and Toronto General Hospital, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Frosk+P%22">Frosk P</searchLink>; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Gillespie+MK%22">Gillespie MK</searchLink>; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Goh+ES%22">Goh ES</searchLink>; Clinical Genetics, Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Hayeems+RZ%22">Hayeems RZ</searchLink>; Program in Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Hashemi+B%22">Hashemi B</searchLink>; Division of Medical Genetics, Department of Paediatrics, Royal University Hospital, Saskatoon, SK, Canada.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Jackson+M%22">Jackson M</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Laberge+AM%22">Laberge AM</searchLink>; Department of Pediatrics, University of Montreal, Montreal, QC, Canada; Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC Canada.<br /><searchLink fieldCode="AU" term="%22Limoges+J%22">Limoges J</searchLink>; Faculty of Health Disciplines, Athabasca University, Athabasca, AB, Canada; Ontario Cancer Research Ethics Board, Ontario Institute for Cancer Research, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Marshall+C%22">Marshall C</searchLink>; Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22McMillan+H%22">McMillan H</searchLink>; Division of Neurology, Department of Pediatrics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Nelson+TN%22">Nelson TN</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and BC Women's Hospitals, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Osmond+M%22">Osmond M</searchLink>; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Parboosingh+J%22">Parboosingh J</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Penney+L%22">Penney L</searchLink>; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS, Canada.<br /><searchLink fieldCode="AU" term="%22Prince+B%22">Prince B</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Sawyer+SL%22">Sawyer SL</searchLink>; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Siu+VM%22">Siu VM</searchLink>; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Thomas+MA%22">Thomas MA</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Turner+L%22">Turner L</searchLink>; Discipline of Pediatrics, Faculty of Medicine, Memorial University, St. John's, NL, Canada.<br /><searchLink fieldCode="AU" term="%22Villeneuve-Cloutier+N%22">Villeneuve-Cloutier N</searchLink>; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Hartley+T%22">Hartley T</searchLink>; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Boycott+KM%22">Boycott KM</searchLink>; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.
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