In your cancer journey you may be referred to a genetic counsellor and may not know what they do or what their role is in your cancer care. Kara Stoler expands on this.
Who are genetic counsellors?
We are healthcare professionals with specialist knowledge of genetics and counselling. We have a master’s degree and are registered with The Health Professions Council of South Africa (HPCSA). In SA there are 28 registered genetic counsellors employed in the public and private sector.
What is the reason for genetic counselling?
Genetic counsellors provide you and your family with insight into the role of genetics in cancer. We help you understand and adapt to the medical, emotional, familial and reproductive implications of a hereditary cancer risk, as well as access ways to prevent or reduce the impact of cancer on you and your family.
Who should see a genetic counsellor?
In the context of cancer, you would benefit from genetic counselling if you are/have:
- At risk for a hereditary cancer syndrome.
- A hereditary cancer syndrome in the family confirmed by a genetic test.
- Curious and want to access genetic testing.
- Anxious about your family’s risk for cancer based on your own diagnosis.
What happens in a genetic counselling session?
We offer genetic counselling sessions in-person or online. The latter is valuable as genetic counsellors are not represented throughout SA, affording access to all. Usually there are two consults of an hour; referral and pre-test, and post-test.
Not much prep is needed for a consult. We require a referral letter, reports confirming your diagnosis (if appropriate) and your family’s cancer history (who had cancer, type of cancer, age of diagnosis (if known), and relation to you). Sometimes there is no family history of cancer, or it’s unknown because of adoption or lack of contact. This is not a problem.
The different aspects of a genetic counselling session include:
Pre-test
- Summarise your family history – draw a family tree (pedigree).
- Use risk assessment tools to determine your hereditary cancer risk.
- Discuss hereditary cancer syndromes; genetics; inheritance; cancer types and risk; prevention and care; and testing.
- Assist in decision-making
- Facilitate genetic testing – request funding, test request forms, consent and sample collection (blood or saliva).
Post-test
- Interpretation of test result and specialist referral. For example, a specialist radiotherapist for intensive screening.
- Assist family members.
- Manage pregnancy options.
Why have a genetic counselling consult instead of just a test?
Genetic counsellors are there to assist with informed consent and emphasise the unexpected or misinformation people may have about hereditary cancer syndromes:
- By assessing risk, some individuals’ risk will be reassured as their risk is low – no need for testing.
- Test selection is complex – multiple genes and test options. Test recommendations align to your personal risk assessment.
- One gene, one cancer risk is a common misperception.
- A negative result doesn’t exclude risk. Test options, limitations and risk interpretation need to be considered.
- A negative test doesn’t mean no risk for cancer.
More than just information
A risk for a hereditary cancer syndrome can be overwhelming and disempowering. As genetic counsellors, we help you think of the impact of the result, accessing additional care and preventative treatments and the meaning for them. Individuals are encouraged to consider the implications of a hereditary cancer syndrome for other family members, including children.
Genetic counselling is there for you to have sufficient understanding of hereditary cancer syndromes, the implications for you, your family and community so that you’re able to make decisions that are appropriate for your needs, and in keeping with your personal, cultural, ethnic and religious beliefs around cancer and family matters.
MEET THE EXPERT – Kara Stoler
Kara Stoler is a genetic counsellor in private practice. Her primary focus has been in population screening and the fertility sector. However, her passion for helping individuals and couples has allowed her to work in many clinical areas. She believes in supporting patients and in assisting them with making informed medical decisions that are consistent with their family’s needs, values and beliefs.
Header image by Adocbe Stock