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HomeClinics, Services & ProgramsDirectoryGenetics Clinic

Genetics Clinic

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The Genetics Clinic team consists of geneticists, genetic counsellors and support staff. Our catchment area is the Champlain LHIN and parts of Western Quebec, and we see individuals and their families at all stages of life: during pregnancy, in childhood and in adulthood. Some patients will meet with a genetic counsellor only, some will meet a genetic counsellor and a geneticist and some will meet only with a geneticist, depending on the reason for referral.

We provide assessment, diagnosis, counselling and follow-up for individuals who:

  • Have a known or suspected genetic condition (including genetic syndromes, skeletal dysplasias, cardiogenetic disorders, connective tissue disorders, ocular genetic conditions, genetic forms of hearing loss, genetic skin conditions, and neurogenetic conditions)
  • Have single or multiple congenital anomalies
  • Have developmental delay, intellectual disability and/or autism with syndromic features (eg. dysmorphic features, congenital anomalies)
  • Have a personal and/or family history of a genetic condition (such as cystic fibrosis, hemochromatosis and Huntington’s disease among many others)
  • Have a personal and/or family history of cancer. Visit our Hereditary Cancer Page for more information.
  • Require assessment for familial or hereditary conditions relating to connective tissue in the arteries, the skin and muscles as well as other body systems. Visit our Connective Tissue Clinic page for more information.
  • Are of an ethnic origin in which certain inherited disorders may be more common
  • Have had a previous child with a malformation or chromosome abnormality
  • Have a positive screen result for Down syndrome or trisomy 18 in a pregnancy. Visit our Prenatal Testing page for more information.
  • Have abnormal ultrasound findings in a pregnancy. Visit our Prenatal Testing page for more information.

Children with isolated/non-syndromic developmental disorders can be referred instead to the Neurodevelopmental Disorders Diagnostic Clinic.

View our referral forms

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To learn more about MyChart and sign up, visit our MyChart page and fill out the MyChart Access Request Form.

Location and hours

The Genetics Clinic (wC-2) is located on the third floor of the Max Keeping Wing which is adjacent to the main hospital building. From the main entrance of the Max Keeping Wing (second floor), take the stairs or elevator up one floor and go to the end of the corridor. There is signage that will help you find the Clinic.

Address

Genetics Clinic (wC 2–3rd Floor), CHEO
401 Smyth Road
Ottawa, ON K1H 8L1

We are open Monday to Friday 7:45a.m. to 4:30p.m

Phone and fax numbers

Telephone: 613-737-2275
Fax: 613-738-4822

Make a referral

We accept referrals from physicians and some other health care providers.

Send an eReferral
Did you know pediatricians and family doctors can register for EpicCare Link to send an eReferral to CHEO?
Learn more and register.

Referral forms

Genetics referral form

General family history questionnaire

Hereditary Cancer Clinic referral

Frequently asked questions

Do I need to indicate if my patient or their partner is currently pregnant?

Yes, pregnancy (patient/patient’s partner) may expedite your referral. To avoid delays, please ensure you include:

  • Last Menstrual Period (LMP) date
  • Ultrasound reports (e.g. first trimester, second trimester, level II),
  • All prenatal screening results for this pregnancy (e.g. FTS/NIPT)
  • Lab report for blood group
  • Relevant family records (e.g. genetic testing results of family member, autopsy report of previous affected child)
Do I refer to the Genetics program if my patient has a history of hereditary cancer?

Yes, the Hereditary Cancer clinic has its own referral form, available on our Hereditary Cancer Program page. Referrals should be faxed to 613-738-4822.  

Do I refer to the Genetics program if my patient needs a Metabolics or Neurodevelopmental Disorders assessment/services?

No, referrals to the Metabolics Clinic at CHEO should be faxed to 613-738-4216 and referrals to the Neurodevelopmental Disorders Diagnosis Clinic (NDDC) should faxed to 613-738-4258

My referral was declined. Why might that be?
  • Your referral might be incomplete, meaning that we need more information in order to assess whether an appointment in Genetics is indicated, and if so, with what priority (see below).  If this was the reason for decline, please re-refer your patient and include all of the required information.
  • Your referral question may not be one that we can address with a Genetics consultation. In some cases this is because we would first need to see a different member of the family before seeing your patient.

If your referral has been declined and you have additional questions related to that patient, do not hesitate to reach out to the genetic counsellor on-call or connect with a geneticist via the Champlain BASE eConsult. To date, 100% of providers using eConsult to Genetics have said they either got good advice for a new or additional course of action, or were able to confirm their planned course of action. Over 90% have found value in this service for their patient(s).

Why do you ask for ‘relevant’ health records?

Health records review is often critical to determine a patient’s differential diagnosis, eligibility for genetic testing, and which type of genetics provider is best suited to see your patient.  Relevant records may include: 

  • Medical reports related to the diagnosis in question
  • Test results (e.g. blood work, medical imaging)
  • Consult notes for this patient and/or their affected relative

Download the Consent to Disclosure of Personal Health Information form

How long will my patient wait for an appointment?

Wait-times are variable.  Each referral is assessed, triaged and assigned a priority level. Our goal is to see:

  • Urgent referrals in less than three weeks (e.g. pregnancies, newborns)
  • Semi-urgent referrals within 3 months (e.g. new genetic diagnosis))
  • Routine referrals within 6 months, but wait-times can be longer
What happens if my patient misses their appointment?
Unless there are extenuating circumstances, if your patient misses their appointment without calling ahead to let us know they won’t be coming, we will decline the referral and request a new one. Your patient will then be placed back on the waitlist.
Encourage your patients to explore their family history!

Please encourage your patient to obtain any relevant information, such as results of genetic testing, from relatives prior to their appointment in Genetics.  Helpful forms (e.g. consent for release of information, family history) can be found on our Genetics Program page.

Protecting privacy: Your genetics clinic visit

To provide the best care possible, we need to collect and use your health information as part of your genetics visit. CHEO is committed to keeping this information safe and confidential. To do this, we follow legislative rules about collecting, using and sharing your information.

Common questions about privacy

 What is personal health information (PHI)?

PHI is any identifying information that relates to your health or
health care history. Examples of PHI include test results, your
health card number, details of visits to your doctor or your address.

What is the Personal Health Information Protection Act
(PHIPA) and how does it relate to me?
PHIPA is the Ontario law that protects the privacy and
confidentiality of your personal health information. PHIPA sets the
rules for the collection, use and sharing of your PHI.
 How does CHEO protect our personal health information?
CHEO uses physical, administrative and technical safeguards to make sure your information stays
private. For example, secure passwords and specific security measures For example, secure passwords
and specific security measures like locking computers and logging off when leaving a work station.
CHEO's privacy team provides ongoing education and training to all staff members and conducts
regular checks to see who is accessing your information.
 How do I give my consent?
In general, we assume you give consent to share your information with people involved in your care.
We will ask for your consent before we collect, share or use your information for any other purpose
than our stated activities.
 Who can see my PHI?

We only share your PHI with people who need it and have a right to it by law. The people who may see
this information include:

  • members of your health-care team, inside CHEO and authorized external health-care providers
  • people working for a health agency, such as the Ministry of Health, only if required by law
  • other people for whom you have given your consent, or when required by law

CHEO is a contributing member to the following provincial organizations: Connecting Ontario,
the electronic Child Health Network (eCHN) and Cancer Care Ontario (CCO). CCO is allowed to collect PHI from CHEO and other health information holders to facilitate or improve health care without a signed release.

This change came into effect in May 2018. If you are part of the Ontario Breast Screening Program, your information will automatically be submitted to CCO. This change in practice has been reviewed and approved by the Information and Privacy Commissioner of Ontario.

 How is PHI used at CHEO?
As part of your genetics visit, your PHI helps your team provide health care. Your anonymous PHI will
also assist CHEO in improving the delivery of our programs and services, conduct quality improvement
and patient safety activities, as well as to teach and conduct research.
What are my rights related to privacy?
You have the right to:
  • know why your PHI is collected, how it is used and shared
  • ask to see your own PHI and to have a copy of it
  • access or correct (if applicable) your PHI
  • express your concerns about how your PHI is used or protected
  • withdraw your consent for the different ways we use your health information
  • put a privacy flag on your electronic health record if you have concerns about your PHI being
  • accessed
What if I have questions about my PHI as it relates to my genetics visit?
Speak to your health-care professional during your visit or email privacy@cheo.on.ca with questions or
concerns about any of CHEO's privacy practices.

If you think CHEO has violated your privacy rights, contact:

Information and Privacy Commissioner of Ontario
2 Bloor Street East, Suite 1400, Toronto, Ontario, M4W 1A8
Email: info@ipc.on.ca
Web: www.ipc.on.ca

 

Genetics Program

The Regional Genetics Program is active in research, teaching and training for medical, undergraduate and post-graduate programs. Many members of our program are also members of the CHEO Research Institute, and work to improve care and treatments for patients dealing with genetic conditions.

Learn about our program’s mandate, mission and vision

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.

Challenging Gene Patent Law

In 2016, CHEO announced a deal with patent holder Transgenomic that ensures Canadian public sector hospitals and laboratories the right to test for Long QT syndrome in Canadian patients on a not-for-profit basis. In doing so, we have created a model for recognizing the public interest in genetic testing within the Canadian health care system. As these tests can now be performed in Canada, families across the country will have better, quicker access to the answers and the care they need.

Read the Public Health Access Agreement

Download the Standard License Agreement 

Other Canadian not-for-profit entities can enter into this agreement with Transgenomic.

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