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??Medical? Genetics & Genetic Counselling

'Giving Medical Care, Genetic Counselling and Information for Families with Genetic Conditions and other Birth Defects'

Clinical Genetics

Clinical Genetics is a medical speciality which offers services related to genetic (or hereditary) conditions and birth defects. It is targeted at individuals who:

• Themselves have a genetic condition or birth defect
• Are at increased risk of inheriting a genetic condition, due to a family history
• Want to determine their children's risk of inheriting a genetic condition.

Genetic Counselling

Genetic Counselling is offered as part of the Clinical Genetics service and is available to individuals and families who have a genetic condition, or who are at risk of developing such a condition. The aim of genetic counselling is to help individuals understand the genetic and medical implications of a condition. Genetic counselling also help individuals come to terms with the familial and psychological impact of having a genetic condition in the family. Genetic counselling is therefore a unique process which incorporates the interpretation of an individuals' medical and family history; the education of individuals regarding relevant genetic and medical information; as well as helping individuals make informed medical and reproductive decisions.

The clinical genetic and/or genetic counselling consultation

The consultation is with a clinical geneticist or genetic counsellor, depending on the specifics of the individual case. If a diagnosis needs to be made, a clinical genetic assessment is required.The consultation includes a detailed family and personal history, which is used to conduct a family tree (pedigree). This information is important when calculating an accurate risk of inheriting or passing on a genetic condition. In the case of a clinical genetic assessment, the consultation will also include a medical examination. A focus of the consultation is to provide information regarding the cause and implications of a genetic condition, as well as the inheritance pattern and subsequent risk to offspring or other family members. Information is also provided regarding genetic testing options (including diagnostic and predictive testing procedures, and prenatal testing), treatment and management options and links to support groups.

Who will benefit from Clinical Genetic and Genetic Counselling services?

• Individuals requiring diagnostic assessment for a genetic condition or birth defect (clinical geneticist)
• Individuals who have been diagnosed with a genetic condition themselves or who have a child with a genetic condition.
• Individuals who have a previous child or a family history of a condition which may be genetic.
• Individuals who have had a child or family member with a birth defect (e.g. cleft lip or palate, heart defect, clubfoot, spina bifida).
• Couple who are related to each other and are planning to have children.
• Individuals who have a number of family members affected by cancer, particularly breast; ovarian; prostate or colon cancer.
• Individuals who are diagnosed with cancer at a young age (i.e. younger than 50 years old).
• Women who are 37 years or older and pregnant.
• Individuals who have had three or more consecutive, first trimester miscarriages.
• Women with certain maternal diseases or infections (e.g. diabetes; rubella) during pregnancy or who were exposed to certain medications, recreational drugs or alcohol during pregnancy.
• Women who are pregnant and have had a sonar which revealed softmarkers (e.g. increased nuchal translucency, echogenic focus) or fetal abnormalities.
• Women who are pregnant and have had a positive maternal serum screen.
• Individuals from certain ethnic groups that are considered high risk for specific genetic conditions (e.g. Afrikaners, Ashkenazi Jews and Indian).