What is genetic counselling?
Genetic counselling is a provincially funded healthcare service aimed at helping individuals and families understand genetic conditions and how it may relate to them.
What is a genetic counsellor?
A genetic counsellor is a healthcare professional with specialized training (typically a Master’s of Science) in medical genetics and counselling. Genetic counsellors work as members of a healthcare team, providing individuals and families with information on the nature, inheritance, and implications of genetic conditions to help them make informed medical and personal decisions.
Who should consider seeing a genetic counsellor?
Genetic counsellors see individuals/families at all stages of life for many different reasons. Common reasons why an individual/family might see a genetic counsellor in the preconception or prenatal period include:
Pregnancies at increased risk of a chromosome change (like Down syndrome) or a genetic condition because of:
- A positive prenatal serum screen result
- Being 35 years of age or older at the time of delivery
- Pregnancies with an increased nuchal translucency (NT) measurement
- Ultrasound anomalies or soft markers found in the fetus/baby
Individuals affected by or with a family history of:
- Inherited conditions (e.g. cystic fibrosis, Huntington disease, Duchenne muscular dystrophy)
- Chromosomal abnormalities (e.g. Down syndrome, trisomy 18, chromosome rearrangements)
- Birth defects (e.g. cleft lip and/or palate, spina bifida, anencephaly, heart defect)
- Multifactorial conditions
- Learning disabilities/mental retardation
Other reasons that may prompt individuals/families to seek genetic counselling are:
- Ethnic based carrier screening
- Parental consanguinity (related by blood)
- Recurrent miscarriages (3 or more)
How can a genetic counsellor help me?
The genetic counsellor’s role is to provide unbiased information, in a way that is easy to understand, to help individuals/families make informed decisions about their current or future pregnancies. A typical genetic counselling session involves collecting medical and family history information, reviewing and explaining testing results (e.g. positive prenatal serum screens, ultrasound anomalies) or other pertinent information, determining the likelihood of the fetus/baby having a genetic condition, and discussing what this information means for the current or future pregnancies.
If further testing is available, a genetic counsellor will explain the benefits and limitations of testing and help you decide if testing is right for you. The counsellor will also offer support when making difficult decisions regarding continuing or terminating a pregnancy for medical reasons or decisions regarding future pregnancies. Furthermore, genetic counsellors serve as patient advocates and refer individuals/families to available support services, as needed.
How do I see a genetic counsellor?
If you are interested in seeing a genetic counsellor, please discuss a referral with your healthcare provider (family doctor, obstetrician, or midwife). Visit the Canadian Assoication of Genetic Counsellors for more information on genetic counselling and a list of Genetics Clinics in Canada.
Danna Hull, MSc, CCGC, CGC, Genetic Counsellor, Kingston General Hospital