GENETICS PROGRAM

Genetics Program
The Genetic Counselling Program offers comprehensive diagnostic, counselling and testing services to individuals and families with genetic concerns. This involves:

• Assessment and diagnosis of genetic disorders
• Provision of medical information and advice about genetic diseases or conditions to people at risk of a disorder that may be hereditary
• Discussion of the chance of developing the disorder and of passing the disorder on
• Information about the ways in which it may be prevented or helped
• Arranging and interpreting genetic laboratory test results 
• Participation in education and research

Genetic testing can:

• Determine the chance of having a child with a genetic condition or birth defect
• Diagnose genetic diseases after symptoms begin
• Indicate the likelihood of developing an inherited condition later in life

This information can assist individuals make personal decisions about their health, pregnancies or their child's health.
How do you obtain this service or find out more information?

• Discuss your concerns with your health care professional and he/she can make a referral.  
• For further information: Contact the Health Unit Genetics Program at (705) 474-1400 ext 2305

FAQ'S

1. What are some reasons for referral?

Preconception/Prenatal

• 3 or more miscarriages
• Age of 40 years or older at delivery
• Exposure to medication, drugs, chemicals etc. during pregnancy
• Prenatal Screening - positive result
• Abnormal ultrasound findings
• Previous child with a birth defect
• Previous child with a chromosome abnormality or other genetic disorder
• Specific ethnic group that may have a higher incidence of certain disorders e.g. Thalassemias
• Consanguinity (couples who are closely related)

General Genetics

• Birth defect(s) or multiple congenital anomalies (cleft lip/palate, heart defects, spina bifida)
• Developmental Delay of unknown cause
• Sensory impairments (vision, hearing)
• Metabolic disorders (PKU, galactosemia)
• Known/suspected genetic disorders e.g. (Down syndrome, Cystic fibrosis, Muscular Dystrophy)
• Family history of a disorder you think may be hereditary e.g. Huntington disease, Cystic fibrosis, Hemochromatosis, Muscular Dystrophies
• Suspected genetic disorder
• Carrier of genetic disorder

Cancer Genetics

Genetic assessment and counselling for individuals and families at increased risk for hereditary cancer syndromes.

Families with hereditary cancer syndromes generally have the following:

• Same or related cancers occurring in several generations
• Three or more relatives affected
• Onset before 50 years of age
• Individuals with multiple primary cancers
  

The most common hereditary cancers are:

• Breast
• Ovarian
• Colon
• Stomach
• Melanoma

If you are unsure as to whether you and your family history are at an increased risk of a hereditary cancer syndrome, please speak with your health care professional and he/she will advise you on whether a referral to the Genetics Program is appropriate.

Huntington’s Disease

• Multidisciplinary Clinic offering assessment and support  to individuals and families with Huntington disease
• 2-3 clinics per year
• Held in North Bay and Sturgeon Falls

These clinics involve a team of specialists including neurology, genetics, social work, occupational therapy and speech language pathology.

2. What can I expect from genetic counselling services?  

• We aim to provide  information and support to our patients in a clear and sensitive manner
• We will ask you questions about your family history and might ask to collect medical records on you or your family members. Medical records can give specific details that are needed for diagnosis, management, treatment, calculating inheritance risks and/or estimating prognostic outcomes.
• Depending on the nature of the genetic condition in question, you may be booked into our Genetics Clinic.  A geneticist (a physician who specializes in genetics) will perform a genetic assessment. He/She will review your medical and family history and may perform a physical examination.
• Genetic testing Is offered in certain situations. The limitations and benefits of genetic testing will be discussed at length with you to help you make an informed decision.
• Genetic conditions can have far-reaching implications for the extended family. The Genetics Program has a unique and strong family-focused approach to patient care.