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CHEO Regional Genetics Program

About the Program

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At CHEO, our Regional Genetics Program strives to provide answers for every family at all stages of life. We work closely with our patients and families to provide genetic assessment, diagnosis, counseling, and testing in the areas of clinical, biochemical, cytogenetic and molecular genetics. We are home to the most successful rare gene discovery programs in Canada - FORGE Canada and Care for Rare - which have achieved international recognition.  Through world-class research we have already studied 370 disorders, generating 190 diagnoses and have identified 80 rare disease genes.  Our researchers and scientists are on the cusp of new genetic discoveries every day.

Our mandate:

To provide clinical and laboratory services through all stages of life (preconception, prenatal, pediatric and adult). 

Our mission:

 As a leader in deciphering genetics, our mission is to translate research into knowledge to empower families to be their healthiest.

Our vision:

Answers for every family at all stages of life.

In accordance with our mission and vision, we strive to:

  • Provide a complete range of high caliber screening, diagnostic and counselling services related to inherited diseases and birth defects, while demonstrating respect for our patients and their families at all life stages.
  • Act as a resource for health care providers and the public concerning issues in genetics.
  • Serve as a centre of excellence for postgraduate training of medical residents, genetic counsellors, laboratory technologists and scientists.
  • Contribute to the understanding of genetic disease and birth defects by participating in research.
  • Evaluate our program regularly in order to meet our goals of continuous improvement, innovation and professional development.

We serve a population of approximately 1.2 million in our catchment area of Eastern Ontario, Western Quebec and Nunavut – and receive 5000-6000 outpatient visits each year. We see patients of all ages and medical issues relating to all organ systems.  There are thousands of genetic conditions, so the reasons for referral are as varied as the patients themselves.  Learn more about the patients for whom we provide assessment, diagnosis, counselling and follow-up.  

The Regional Genetics Program is active in research, teaching, and training through medical, under-graduate, and post-graduate programs. Many members of the Genetics Program are also members of the CHEO Research Institute. Our research is designed to further the understanding of genetic diseases and improve our ability to help patients and families dealing with these conditions.  Our research is often conducted in collaboration with scientists who are not directly involved in patient care.

We are academically affiliated with the University of Ottawa’s Departments of Pediatrics, Medical Oncology, and Pathology & Laboratory Medicine. We are committed to excellence in the teaching and mentoring of medical students, residents and fellows.  We also teach our peers about medical genetics in the context of Continuing Medical Education (CME) days at local venues; presentations at provincial, national and international conferences; and presentations to outreach communities.   

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