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Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada
Monica F Lamoureux1, Kylie Tingley, Jonathan B Kronick
1Children's Hospital of Eastern Ontario, Ottawa, ON, Canada, K1H 8L1.
Insights
Care for children with inherited metabolic diseases (IMDs) in Canada varies significantly across treatment centers. This variation in services and resources necessitates further research to ensure equitable patient outcomes.
Area of Science:
- Pediatric Medicine
- Genetics
- Healthcare Systems Analysis
Background:
- Most Canadian children with inherited metabolic diseases (IMDs) receive care at specialized treatment centers.
- Understanding the current care system is crucial for identifying disparities and guiding future research in pediatric IMD care.
Purpose of the Study:
- To map the Canadian system of care for pediatric patients with inherited metabolic diseases (IMDs).
- To identify variations in services, resources, and research capacity among IMD treatment centers.
- To inform future research priorities and healthcare policy.
Main Methods:
- A web-based survey was distributed to all 14 Hereditary Metabolic Disease Treatment Centres in Canada.
- The survey collected data on center demographics, scope of practice, staffing, available services (including laboratory and telehealth), and research involvement.
- Responses from 13 centers were analyzed descriptively.
Main Results:
- Thirteen of 14 Canadian treatment centers participated, representing at least 85% of the national pediatric IMD population.
- All centers care for pediatric IMD patients, with most having physicians and dietitians. Telehealth and biochemical genetic testing are common, but access to on-site lab tests varies.
- While most centers have research experience, barriers exist for accessing additional off-site services.
Conclusions:
- Significant variation exists in the organization and delivery of care across Canadian pediatric IMD treatment centers.
- Further investigation is needed to link practice variations with patient health outcomes.
- Findings underscore the need for policies promoting equitable access to beneficial services for pediatric IMD patients.
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.
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