Predisposed to Advise on Genes

Article excerpt

What does your job entail? I see individuals and families who are affected by various genetic conditions and explain the medical and genetic aspects of the condition.

I analyse the family history and calculate recurrence risk for the patient and other family members. Discussion of the condition will include the inheritance pattern, the management and implications of the diagnosis, genetic testing options and making referrals to support groups and support systems.

Average work day: At the Red Cross Children's Hospital I work in the paediatric genetic clinic as part of a team of genetic experts. The clinic's role is to diagnose children referred by doctors or to offer counselling for patients already diagnosed. I explain the diagnosis and offer psychosocial support.

On Wednesdays I work at the pregnancy counselling clinic at Groote Schuur Hospital where we see pregnant women have a family history of a condition, or who have had an abnormal ultrasound.

Women over 37 are seen for genetic counselling to discuss the risks of birth abnormalities, the options available to them and the implications of tests. In my private practice I mostly do breast cancer counselling with patients referred to me by doctors. Most of the patients have a family history of early-onset breast cancer and/or ovarian cancer, or cancer in general. We discuss DNA tests for genetic predisposition and provide more information about who could be at risk. If we find a genetic cause (a specific mutation in the family) we can offer cascade testing to the rest of the family. …