Genetic counselling is a health care service aimed at helping individuals and families understand the science of genetics and how it may relate to them. Counsellors are health professionals with specialized education, training, and experience in medical genetics and counselling. They work with people who may have an increased chance of having a child with an inherited condition or with a birth difference or defect. They provide information that helps families make personal decisions about pregnancy, child care and genetic testing.

Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.

Anyone who has unanswered questions about diseases, chromosome abnormalities or a birth defect in their family or partner’s family. It is recommended that you discuss your concerns with your health care provider (obstetrician, family doctor, midwife etc) who may refer you for genetic counselling.

A counsellor will record your medical background and family medical history. He or she may then offer to arrange additional appointments for further investigation (e.g. amniocentesis). Genetic counsellors also help you understand medical information about any risks and explain the role of genetics for these conditions. Often, they can determine the risk of occurrence or recurrence of a condition and the tests available to determine your risk for having a specific condition.

If there are decisions to be made about a pregnancy, the care of a child, having more children, or about the ability of the family to cope with ongoing problems, parents can make more informed choices with the facts in hand. The counsellor’s role is to provide an unbiased, complete and accurate view of the situation, the nature of the birth defect being investigated, and what — in practical terms — its occurrence would mean for all involved.

If a birth defect is diagnosed, genetic counsellors can provide emotional support during what can be a very difficult time, and help connect a family with support groups for specific genetic conditions. The concept of genetic conditions can be frightening and confusing. Counsellors are trained to help translate and simplify the information, and act as an emotional resource. A genetic counsellor’s primary concern is the interests of his or her patient. Counselling is based on values of care and respect for the patient’s autonomy, individuality, welfare, and freedom.

Therefore, genetic counsellors are integral members of the genetic team and strive to be patient advocates by:

• Equally serving all who seek services
• Respecting patients’ beliefs, cultural traditions, inclinations, circumstances, and feelings
• Enabling their patients to make informed independent decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences
• Referring patients to other competent professionals when they are unable to support patients
• Maintaining confidentiality of any information about patients, unless previously released by the patient
• Avoiding exploitation of their patients for personal advantage, profit, or interest