Ontario IMD
Association
A group of Ontario medical professionals and scientists improving the diagnosis and management of children and adults with inherited metabolic disease (IMD)
News and updates
Welcome to Ontario IMD! We created this group to improve communication, collaboration and advocacy surrounding the important issues that relate to Ontario IMD patients. Please join (see button at header) for updates on our efforts and future meetings.Danielle Bourque, CHEO
Hanna Faghfoury, UHN
June 20, 2025: FIRST ROYAL COLLEGE IMD MEDICINE WORKING GROUP MEETING
The first Royal College IMD Working Group meeting in Ottawa has come to a close! Members of the Ontario IMD team worked with physicians from across Canada to help establish the training requirements for IMD physicians. The next meeting will be in November 2025 followed by a meeting in the spring of 2026.
9 May 25: OH PGP TEAM PRESENTS AT GARROD
The OH PGP team presented “TRANSFORMING INHERITED METABOLIC DISEASE CARE: KEY LESSONS FROM ONTARIO” based on Ontario’s First IMD Current State Assessment at the 2025 Garrod Symposium in Vancouver, BC. A lot of great feedback on this large undertaking was received!
15 Apr 25: UPDATED IMD COVERED FOOD AND DRUG LIST
Please find the IMD Food and Drug List; updated in March 2025
https://www.ontario.ca/files/2025-04/moh-opdp-imd-program-list-of-disorders-covered-drugs-supplements-foods-en-2025-04-15.pdf
31 Jan 25: OH PGP CURRENT STATE OF IMD CARE
The initial draft of the “Current State Assessment of Inherited Metabolic Disease Care in Ontario” guidance document from the OH PGP IMD expert group has been circulated for feedback. A series of recommendations to improve IMD care for Ontarians were made, including: 1. Optimize models of care for current and future IMD service demands; 2. Establish oversight of IMD laboratory services to ensure equitable and reliable access across Ontario; 3. Define and streamline IMD treatment pathways for enhanced access and efficiency. Once the document is finalized and made public, we will be able to share with our community.
18 Oct 24: CANADIAN LYSOSOMAL MEETING
Ottawa is proud to host a second national metabolic conference this year - the Canadian Symposium of Lysosomal Diseases - taking place at the Westin on October 18-19. Canadian and international leaders and experts will present innovative trends and solution-focused best practices in the diagnosis and management of lysosomal diseases.
12 Sept 24: ONGOING LAB ACCESS DISCUSSION
Access to critical metabolic monitoring labs remains a challenge outside of hospital settings. We remain in contact with a medical advisor at the MOH Labs and Diagnostics branch. Our concerns are being heard and we have created a list of “required” labs for our patients:
Plasma amino acids
Urine organic acids
Plasma acylcarnitine profile
Total and free carnitine
Plasma total homocysteine
Plasma methylmalonic acid
Urine metabolic screen
2 May 24: GARROD SYMPOSIUM ROYAL COLLEGE UPDATES
The 2024 Garrod Symposium is being held in Ottawa! As one of the chairs of the organizing committee, I can safely say we have a great program and it will be one of the top IMD events in Canada this year. We have experts from across North America (and further!) who will be presenting in this forward-looking symposium.On a very happy note, we received word during the Garrod symposium that the Royal College IMD Medicine application was presented at the April 18-19, 2024 Committee on Specialties meeting, including the results of the national consultation. The application was endorsed and sent for consideration by the Committee on Specialty Education (CSE) who met today May 2, 2024. We received verbal confirmation that the application was endorsed by the CSE, and it will be proceeding to the Executive Committee Council (ECC), and subsequently to the Royal College Council for final approval.
3 Jul 24: MAJOR NEWS FROM THE ROYAL COLLEGE
We received notification from the Royal College of Physicians and Surgeons that our application for recognition of IMD medicine as a subspecialty has been approved!! Having a formalized and recognized subspecialty in IMD medicine will help attract new physicians to the field and help us best train physicians to practice in this rapidly changing field. Our success reflects years of hard work from a motivated group of IMD physicians across Canada. The next step will be to establish a working group to set the standards of training and accreditation for centres across Canada. This is one of the biggest advances in IMD education in decades.
12 Apr 24: FIRST OH PGP IMD EXPERT GROUP MEETING
The OH PGP IMD expert group had its inaugural meeting. The group is chaired by Dr. Hanna Faghfoury at UHN and consists of dedicated physicians, lab scientists, dietitians, nurses, and genetic counsellors from the 7 IMD centres across Canada. The group’s initial priority is to create an organizational document that outlines the current state of IMD care in Ontario. Surveys have been sent to each site to understand IMD patient volumes, human resources, clinic and care models, and issues in accessing care and laboratory services. The survey also collected information about critical incidents relating to diet and medication supply and distribution to help us better advocate for safe care for IMD patients in Ontario.Further projects will include the creation of an Ontario specific database of laboratory tests, meetings with laboratory directors to create a current state assessment, and environmental scanning on IMD care in other jurisdictions.
14 Nov 23: CALL FOR INTEREST IN ONTARIO HEALTH PROVINCIAL GENETICS PGRAM IMD EXPERT GROUP
Please see the following information regarding an important opportunity in the Ontario IMD community:
Ontario Health’s Provincial Genetics Program (PGP) has a mandate to ensure the provision of comprehensive, coordinated, and evidence-based genetic services for Ontarians. To fulfill this purpose, the PGP is assembling Genetic Expert Groups for several high-impact areas that have been identified. To date, the PGP has assembled ongoing expert groups in Cardiogenetics, Neurodevelopmental Disorders, Neurogenetics, Renal Genetics, Reproductive Genetics, and Inborn Errors of Immunity. We are currently seeking Expressions of Interest for voluntary membership positions for an upcoming expert group in Inherited Metabolic Diseases (IMD).The Inherited Metabolic Diseases Expert Group will encompass both adult and pediatric populations and will advise on genetic and biochemical testing, clinical genetics services, and management for patients with IMDs (Inherited Metabolic Diseases).We are looking for 10-12 representatives across the province for the IMD Expert Group and balanced across these specialties, including but not limited to:
Physicians with an expertise in biochemical genetics (pediatric or adult)
Laboratory biochemical genetics specialists
Registered dietitians
Certified genetic counsellors
Registered nursesPlease send an Expression of Interest (cover letter and curriculum vitae) by December 11th, 2023 to:
Kathleen Bell, Manager, Ontario Health Provincial Genetics Program
OH-PGP@ontariohealth.ca
9 Nov 23: FIRST STEPS IN ROYAL COLLEGE APPLICATION
Our application to the Royal College of Physicians and Surgeons to establish IMD Medicine as a subspecialty was presented at the Committee on Specialties (C.O.S.) today. The application has passed the first phase of the process and the next phase will be a national consultation in the winter of 2024. The results of the consultation will be presented at the April 2024 C.O.S meeting.
15 Aug, 23: SUBMISSION TO THE ROYAL COLLEGE OF PHSYICIANS AND SURGEONS OF CANADA
Over the past few months, years really, members of the Ontario IMD team, along with IMD physicians from across Canada, have been working tirelessly to prepare an application to the Royal College of Physicians and Surgeons of Canada to establish IMD Medicine (adult and pediatric) as a subspecialty. Today marks a milestone event in this process as the final application documents were submitted to the Royal College. In creating this document we engaged stakeholders from the IMD community, RC specialty committees in related fields, hospital and ministry of health leaders, experts in education, and importantly, we received support from many of the IMD patient organizations. We are grateful to everyone who assisted in this tremendous task and we are hopeful that the Royal College feels this initiative is as important to our patients as we do.
Ontario IMD Centers
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friends and partners
- The Garrod Association
- Newborn Screening Ontario (NSO)
- Canadian College of Medical Geneticists (CCMG)
- British Inherited Metabolic Disease Group (BIMDG)
- Society for Inherited Metabolic Disorders (SIMD)
- Society for the Study of Inborn Errors of Metabolism (SSIEM)
- Genetic Metabolic Dieticians International (GMDI)
useful resources
Are you involved in a clinical trial?
We are looking to create an Ontario IMD clinical trials database that be accessed by healthcare providers, patients, and families. Please send us trial details here.
