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.
To provide clinical and laboratory services through all stages of life
(preconception, prenatal, pediatric and adult).
As a leader in deciphering genetics, our
mission is to translate research into knowledge to empower families to be their
Answers for every family at all stages of life.
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
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.
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.
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.