Abstract
Introduction: Nearly all children in Canada with an inherited metabolic disease (IMD) are treated at one of the country’s Hereditary Metabolic Disease Treatment Centres. We sought to understand the system of care for paediatric IMD patients in Canada in order to identify sources of variation and inform future research priorities.
Methods: Treatment centres were contacted by email and invited to complete a web-based survey. The questionnaire addressed, for each centre, the population size served and scope of practice, available human resources and clinic services and research capacity. Survey responses were analyzed descriptively.
Results: We received responses from 13 of the 14 treatment centres invited to participate. These centres represent at least 85% of the Canadian population, with over half of the centres located in southern Ontario and Quebec. All centres reported paediatric patients with IMDs as their main patient population. A variety of dedicated staff was identified; every centre reported having at least one physician and one dietician. The most common ancillary services available included telehealth (11/12 respondents) and biochemical genetic laboratory testing (10/12), with a high variability of access to on-site laboratory tests. A majority of centres indicated access to additional off-site services, but barriers to these were reported. All but one centre indicated previous experience with research.
Conclusions: The variation we identified in the organization of care highlights the need to investigate the association between practice differences and health outcomes for paediatric IMD patients to inform policies that establish equitable access to services that are beneficial.
Competing interests: None declared
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Acknowledgements
The authors thank Scott Grosse for his contribution to the manuscript.
This work was supported by the Canadian Institutes of Health Research (CIHR) [Grant # TR3-119195].
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Concise 1 Sentence Take-Home Message (Synopsis) of the Article, Outlining What the Reader Learns from the Article
Variation in the organization of care for paediatric IMD patients in Canada identifies a need to investigate the association between practice differences and health outcomes to enable policy development that will ensure access to services that are effective, equitable and affordable.
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Conflict of Interest
Monica F Lamoureux, Kylie Tingley, Jonathan B Kronick, Beth K Potter, Alicia KJ Chan, Doug Coyle, Linda Dodds, Jane Gillis, Grant Mitchell, Anne-Marie Laberge, Julian Little, Kathy N Speechley, Sylvia Stockler, Yannis Trakadis, Lesley Turner, Kumanan Wilson and Pranesh Chakraborty declare that they have no conflict of interests.
The following authors declare additional funding (not related to the financial support or subject matter of the manuscript):
Sarah Dyack has received honoraria, research and/or travel funds from Shire and/or Genzyme Corporation.
Annette Feigenbaum has received funding for industry-sponsored research and honoraria from BioMarin Pharmaceutical and Hyperion Therapeutics on studies unrelated to the present study, as well as honoraria from Symbiotix and Medaccess for educational programmes.
Michael Geraghty has funding from BioMarin for a clinical trial as a site-PI.
Cheryl Rockman-Greenberg received research grant support, but no personal financial compensation, for clinical trials from BioMarin, Genzyme Canada, Shire Human Genetic Therapies (Canada) Inc. and Alexion Pharmaceuticals. She also received honoraria from Alexion for industry-sponsored lectures, symposia and webinars and travel reimbursement and consultation fees from the Actelion National Advisory Board for Niemann-Pick C disease.
Aneal Khan has received honoraria, research, and/or travel funds from Genzyme, Shire, Actelion, BioMarin, Cytonet and LLC.
Jennifer MacKenzie has clinical trials funded by BioMarin and Shire and has received honoraria and/or travel funding from Shire, Genzyme, BioMarin and Actelion.
Bruno Maranda has research grants from Shire, Genzyme and BioMarin.
Aizeddin Mhanni received research grant support, but no personal financial compensation, for clinical trials from BioMarin, Genzyme Canada, Shire Human Genetic Therapies (Canada) Inc. and Alexion Pharmaceuticals.
John J Mitchell has received consultation and travel funds from BioMarin and consultation fees from Genzyme.
Murray Potter has funding from BioMarin for 2 clinical trials as a site-PI and 1 investigator-sponsored trial.
Chitra Prasad is the local site principal investigator for PKU 016 trial and the local site investigator for the Replegal trial.
Komudi Siriwardena has funds from BioMarin Pharmaceuticals for 2 drug studies (PKU-015 and PKU-016) and 1 investigator-initiated study.
Clara Van Karnebeek is a Co-I on a Shire-funded study and a Co-PI on a Ultragenyx-funded study.
Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Completion and submission of the survey constituted consent to participate in this study. This article does not contain any studies with animal subjects performed by any of the authors.
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Lamoureux, M.F. et al. (2014). Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 21. JIMD Reports, vol 21. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_347
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DOI: https://doi.org/10.1007/8904_2014_347
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