Genetic Counseling

Genetic counseling aims to provide you with information about how genetic diseases can affect you or your family. During genetic counseling, the geneticist will review your family history, explain genetic testing options along with the benefits and limitations of testing, discuss your test results and help you understand whether additional family members should be tested.

Based on your personal and family health history, your doctor may refer you for genetic counseling.

Conditions where you may be referred for genetic counseling:

Genetic counseling before pregnancy can address concerns about factors that may affect on pregnancy or a baby during infancy or childhood.

• Genetic conditions in your family or your partner’s family
• History of infertility, multiple miscarriages or stillbirth
• History of sick children in previous pregnancies
• Assisted Reproductive Technology (ART) options
• Pre-marital carrier screening (especially in consanguineous marriages)

Genetic counseling while pregnancy, tests that may be performed during your pregnancy, problems that are detected or conditions that may affect your baby during infancy or childhood.

• History of sick children in previous pregnancies
• History of infertility, multiple miscarriages or stillbirth
• Abnormal test results such as blood test, ultrasound, Chorionic Villus Sampling (CVS) or amniocentesis
• Maternal infections such as cytomegalovirus (CMV) and other exposures such as drugs, chemicals and X-rays
• Family history of cystic fibrosis, spinal muscular atrophy (SMA), single gene disease history.

If your child has signs and symptoms of a disorder, it may be caused by genetic condition, genetic counseling is recommended.

• Abnormal newborn screening results
• Birth defects
• Intellectual disability or developmental disability
• Autism spectrum disorders (ASD)
• Vision or hearing problems

Genetic counseling for adults includes adult-onset conditions such as cardiovascular and neurological diseases and cancer. Genetic counselling is helpful if you have the condition or if there is a family history of a condition that makes you more likely to be affected.

• Hereditary breast and ovarian cancer (HBOC) syndrome
• Lynch syndrome (hereditary colorectal and other cancers)
• Familial hypercholesterolemia
• Muscular dystrophy and other muscle diseases
• Inherited movement disorders such as Huntington’s disease
• Inherited blood diseases such as sickle cell disease

After your genetic counseling session, you may decide to have a genetic test. Genetic counseling after the test is performed can help you better understand your results and treatment options, and help you  with your concerns.