Maritime Medical Genetics Service

Our team of Medical Geneticists, Genetic Counsellors, Nurses, Dietitian, and Administrative staff provides genetic services to people in Nova Scotia, New Brunswick, and Prince Edward Island. 

How we help

Your doctor or nurse practitioner may make a referral to Medical Genetics. Individuals of any age may be referred to genetics, from babies to adults. You may be referred to Medical Genetics if you have:

• A family history of a disorder and are concerned about the chance to develop the disorder or pass on the disorder to your children
• A problem in growth, development, or health that may have a genetic cause
• A partner who is your first cousin or other blood relative
• An abnormality during a prenatal ultrasound  
• A newborn screening result for your baby that requires follow-up
• A history of three or more miscarriages or babies who died in infancy
• A question about testing or more information about genetic conditions that occur more frequently in your ethnic group
• A genetic condition known in your family and are interested in learning about genetic testing to find out if you may develop the condition
• A personal diagnosis of some types of cancer, or family history of cancer where there tends to be similar cancer types, a number of affected individuals, and young ages of onset

Note: Women with positive maternal serum screen or abnormal ultrasound in pregnancy are followed at the Fetal Assessment & Treatment Centre at IWK Health. 

What to expect

The purpose of an appointment in genetics is to gain information that can help individuals make informed personal decisions about their health, pregnancies, or their child's health care. You may meet different health professionals during your visit, including doctors, genetic counsellors, nurses, or dieticians. 

The majority of our appointments involve taking a family and medical history, a physical examination if needed, and investigations, which may include genetic testing. If tests are ordered another appointment is usually booked to discuss these results. We offer virtual care options for patients or families who do not need to be seen in person.  

Your initial genetics appointment will usually take an hour.  We may try to contact you by phone after your appointment is booked to gather some background information such as your family history. For your appointment, it may be useful to have with you a notebook to record notes, and a friend or relative for support, note-taking, and recalling what was said.

If you are being referred for a personal or family history of cancer, you will receive a family history questionnaire in the mail. This is important to fill out before your visit so that we can have the appropriate information for your assessment. 

You'll work with your care provider to create a pedigree (a detailed family tree diagram). It’s helpful if you make note of information about health problems in relatives before your appointment. We will ask about your health, your immediate family (your parents, siblings and children), and your extended family (your aunts/uncles, nieces/nephews, cousins and grandparents). For each family member, it's helpful to know their age, if they have health problems that have required medication or surgery, and names of diseases and hospital where patient is followed (if possible). For deceased relatives it’s helpful to know their age at death. We also ask about your family’s ethnic background (country of origin of your ancestors) as this can be important for certain situations.

A genetics consult may include some or all of the following steps: 

• Reviewing your health, family history and pregnancy history
• Doing a physical examination
• Talking about a specific diagnosis
• Talking about available tests, or treatments
• Requesting medical records from patients or family members
• Discussing the chance that a condition might occur again in your family
• Discussing reproductive options
• Offering support for making decisions and respect for your decisions
• Directing you to additional resources, if applicable 

When you are faced with a decision (for example, whether to undergo genetic testing), genetic counsellors provide support and assistance in the decision-making process. Genetic counsellors will not tell you what course of action to take.