Genetic counselling is a medical service that provides you with information about genetics, to help you understand the impact of a genetic condition on your life, and assist you with making informed personal and medical decisions.
Healthcare professionals who know about genetics and specialise in counselling. They use these skills to inform so you understand genetic illnesses, how they affect health, how they are inherited and what the risks are of passing them on to your children. Genetic counsellors provide you with emotional support to help you come to terms with your risk and make decisions that are right for your specific situation.
Your doctor does not necessarily have the time and experience in genetic conditions to discuss the complex nature of a genetic condition. Genetic counsellors have the time and experience to talk you through the condition and help you deal with the emotional impact on you and your family.
- You are pregnant and over the age of 35 years.
- You need help with prenatal screening and testing i.e. ultrasound, blood tests, amniocentesis.
- You have a child or a family history of a genetic condition, chromosome abnormality or a birth defect, such as:
- Chromosomal abnormality e.g. Down syndrome.
- Intellectual delay.
- Birth defects e.g. cleft lip or palate, spina bifida, heart defect.
- Hearing or vision loss.
- Other genetic conditions e.g. albinism, cystic fibrosis, haemophilia, sickle cell disease, Huntington disease.
- You have many family members with cancer diagnosed at a young age, especially colon and breast.
- You are from an ethnic group at higher risk for a genetic condition e.g. Ashkenazi Jews, Afrikaners and Indians.
- You have a personal or family history of miscarriages or stillbirths.
- You and your partner are first cousins or close blood relatives and are planning a pregnancy.
Your genetic counsellor will:
- Ask about your personal and family medical history .
- Draw up your family tree (pedigree).
- Identify your risk of a genetic condition .
- Discuss the cause, inheritance and risk of the genetic condition for you, your family, your pregnancies.
- Offer genetic testing options where appropriate, and with your consent, e.g. prenatal testing
- Testing that is not needed specifically for genetic counselling e.g. blood sugar levels.
- Testing to which you have not consented.
- Medical examination and diagnosis.
- Medical prescription.
- Long-term psychological care.
- Your personal and family medical history .
- A referral letter from your doctor.
- Copies (if you have them) of any medical reports, clinical examinations and investigations or blood tests relevant to the genetic condition.
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