Genetics is the study of genes and how they work. Genetic counselling is a process of assisting clients with a better understanding and meaningful way of incorporating the underlying genetic issues and implications into a personal and familial framework. At Ampath, we offer genetic testing and genetic counselling to assist physicians in diagnosing genetic conditions.

Our highly trained genetic counsellors assist families to understand which type of testing they require and explain the test results in a clear and compassionate manner.

Our highly trained genetic counsellors assist patients and families to understand the cause of a genetic condition and what the implications of a genetic diagnosis are for themselves, their children or other family members. They also assist families to understand which genetic testing is the most appropriate in their circumstances and explain the test results in a clear and compassionate manner, while giving them the emotional support needed.

WHO COULD BENEFIT FROM GENETIC COUNSELLING?

Couples planning pregnancies, couples who are pregnant and a potential genetic condition has been identified, families where a genetic condition has previously been detected, families where a genetic condition is suspected in a child or adult, families where there is a suspicion of an underlying genetic cancer,

There are four main types of genetic tests that can be performed:

1. Prenatal genetic testing is used to test for a particular condition during pregnancy. The laboratory requires chorionic villus sampling (a tiny sample of tissue from the placenta) or amniotic fluid from the womb (via amniocentesis). Prenatal screening includes testing a maternal blood sample and screening for certain chromosome anomalies in the pregnancy.
2. Diagnostic genetic testing is performed to confirm or rule out a suspected genetic condition. Usually, the patient presents with specific signs and symptoms, notably at birth.
3. Predictive genetic testing is used to identify individuals with an increased risk to develop a particular condition that usually appears later in life. An example of this is testing for BRCA mutation which increases the risk of breast and/or ovarian cancer.
4. Carrier testing is used to identify individuals who are carriers of autosomal recessive genetic conditions, or an X-linked condition. These people do not show any signs or symptoms of a genetic condition, but they are able to pass the genes with the genetic fault onto their children. When both parents are carriers of the same genetic condition, the chance of having a child affected with the condition is 25% in each pregnancy.

Our genetic counselors provide valuable knowledge and support to families during and after the testing process.

To consult with a Genetic Counsellor or Clinical Geneticist, call Yolande Hollingworth, Genetics PA, at tel 012 678 0645 or e-mail <hollingworthy@ampath.co.za>