Genetic counselling

Prenatal genetic counselling

Hereditary cancer

Hereditary colon cancer

Hereditary breast cancer

Genetic testing



Genetic counselling


Should anyone come with me to the genetic counselling session?

It is helpful for your partner, other family member or a close friend to attend the genetic counselling session with you.

What other services do genetic counsellors offer?

Genetic counsellors also have other roles including teaching and consulting with other healthcare providers and the general public.

How long is a genetic counselling session?

An average genetic counselling session can take one hour.

How many times do you need to see a genetic counsellor?

Depending on your need and the reason for attending genetic counselling, you may only require one genetic counselling session. This will be discussed with you by your genetic counsellor.

Where can I access genetic counselling services?

Genetic counselling is provided through the State healthcare system and in private practice.

What is the cost of genetic counselling?

  • Genetic counselling fees are defined by your genetic counsellor.
  • Fees charged may exceed the recommended rate of your medical aid and you would then need to pay in an amount to cover the full expense.
  • Not all medical aid schemes fund for genetic counselling.
  • A travel fee may be added to your bill if the counsellor has travelled to you and will be charged within AA recommended rates.
  • To find out actual fees please ask your genetic counsellor.

Is genetic counselling a recognised profession?

Yes. Genetic counsellors are healthcare professionals recognised and registered with the Healthcare Professions Council of South Africa (HPCSA).

Are genetic counsellors in private practice registered?

Yes. Genetic counsellors who practice in the private sector must be registered with the HPCSA. For them to claim funding from medical aid schemes they must have a practice code issued by the Board of Healthcare Funders of South Africa (BHF).

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Prenatal genetic counselling


What does it mean when they say my pregnancy is high risk?

In prenatal screening this means that there is a higher chance that your baby may have a chromosomal abnormality, genetic condition or structural abnormality compared to the population average.

Is an ultrasound scan dangerous?

Ultrasound uses sound-waves to view your baby. This is not harmful to your pregnancy.

Should I have an amniocentesis as I am over 35 years of age?

The choice to have an amniocentesis is yours. Your genetic counsellor should explain why you may have been offered an amniocentesis and the benefits, limitations or risks relating to this test. If you don’t have a genetic counsellor, please Contact Us.

Will I have to have an abortion if my baby has a problem?

The future of your pregnancy is your decision. Your genetic counsellor will discuss with you the cause and implications of the diagnosis and the various options available, including their risks and benefits. Emotional support will be given throughout your decision process. If you don’t have a genetic counsellor, please Contact Us.

Why would I consider a CVS or amniocentesis?

Please see: When to consider prenatal genetic counselling?

I don’t want to lose my pregnancy is there a risk having prenatal testing?

Certain prenatal tests have a risk of miscarriage; please see What are some of the complications that may occur after an invasive diagnostic test? Or :contact your genetic counsellor.

How much fluid do they take out during an amniocentesis?

Your doctor will remove about 5 to 10ml of amniotic fluid (1-2 teaspoons).

Will my medical aid cover the expense of prenatal tests?

Your medical aid scheme and your cover plan will determine how much of the cost for testing will be covered. Please contact your medical aid for details.

What is the difference between antenatal and prenatal?

Antenatal and prenatal both mean ‘before birth’ and may be used interchangeably.

Can prenatal screening tests detect all birth defects?

No.

What is spina bifida?

This is when there is an opening of the bones of the spine (backbone) and the nerves inside are damaged.

What does it mean when a pregnancy is at ‘low risk’?

A pregnancy at ‘low risk’ for a chromosomal abnormality, spina bifida or genetic condition, means that the chances of these being present is lower than average but it does not mean that there is no risk.

I am HIV positive. Will my baby be affected after an invasive prenatal test?

As an invasive test means that a needle is passed through your stomach into your womb, there is a risk for transmission. Inform your doctor of your HIV status prior to having the test performed. You will be placed on antiretrovirals to reduce the risk of transmission to your baby.

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Hereditary cancer


If you are at risk of a hereditary cancer, why would you have genetic counselling?

Genetic counselling will help refine the risk of whether cancer ‘runs’ in your family.

If I don’t meet the criteria for hereditary cancer, does that mean I’ll never get cancer?

No, 1 in 3 people is diagnosed with cancer in their lifetimes.

If my family has a strong history of different cancers, does this mean that the cancer is not hereditary?

If there is a history of cancer in your family it is important to assess whether this is hereditary. In hereditary cancers, you can get different cancers in different members, but they are all caused by the same hereditary cancer.

Can the gene fault causing cancer be removed?

No.

Will I definitely get cancer if my family has a hereditary cancer syndrome?

It will depend on whether you inherited the gene fault. If you have then you are at an increased risk to develop cancer but other factors e.g. environment also play a role.

Why should I bother to find out if cancer is inherited in my family?

For certain hereditary cancers, preventative screening and management is available, which reduces the risk of cancer in your life.

Is there a cure for hereditary cancer?

No.

Does preventative management for cancer always mean that I have to have an operation?

No.

I don’t have a family history of cancer but I have had breast cancer. Does this mean that I am not at risk for hereditary cancer?

No. Factors besides family history define your risk of hereditary cancer.

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Hereditary colon cancer


If polyps have been found in my colon does that mean I have cancer?

No. Polyps commonly occur in the colon. It is best to discuss your risks with your treating specialists.

Is all colon cancer in a family inherited?

No. Inherited colon cancer makes up about 2% of all colorectal cancers. In about 25% of diagnosed cases there will be one other family member with colorectal cancer, this is called familial colorectal cancer.

Can I prevent colon cancer by changing my diet?

A healthy diet is a good habit regardless of your risk for colorectal cancer. For certain inherited colorectal cancers, such as familial adenomatous polyposis (FAP), if you inherited this condition you will develop cancer. For others such as hereditary non-polyposis colon cancer (HNPCC), if you inherited this condition then your risk to develop cancer is increased. Your environment and lifestyle is known to play a role in the development of this cancer but what exactly changes remains unknown.

Should I go for colon screening?

If you know that you and your family are at risk for a hereditary colon cancer then it is best to follow the recommended screening guidelines. This may be discussed with your medical practitioner or you may read further on What are the recommended screening options for HNPCC? and What are the recommended screening options for FAP?

Is genetic testing for colon cancer available in South Africa?

You may contact a genetic counsellor who will guide you through the genetic testing process and facilitate, should you require genetic testing.

If I have genetic testing for hereditary colon cancer and no mutation is found, does this mean that I am not at risk for colon cancer?

No. If your family was assessed as high risk for colon cancer and genetic testing was performed but no mutation was identified does not mean that you are no longer at risk. Genetic testing for colon cancer is complex and a mutation is not always identified. It is important to realise that you are still at risk for colon cancer and should consider recommended screening.

Is there a cure for hereditary colon cancer?

Hereditary colon cancer cannot be cured. It is recommended that you access the appropriate screening options if available, to reduce the risk and affect of cancer in your life.

What causes HNPCC?

HNPCC is an inherited genetic condition that is caused by a fault (mutation) in one of many DNA mismatch repair (MMR) genes which are involved in preventing the development of cancer.

If I am diagnosed with HNPCC will all my children have it?

No. HNPCC is inherited in an autosomal dominant fashion meaning that there is a 50/50 chance for each of your children to inherit the condition from you.

What sample do they use for genetic testing?

A blood sample is used for genetic testing.

How common is HNPCC or Lynch syndrome?

3% of the population will develop colon cancer of which 3-5% is due to HNPCC or Lynch syndrome.

Who pays for genetic testing?

Genetic testing involves consults with genetic counselors, taking of blood samples and performing the genetic test. Most medical aids fund a limited amount for genetic counselling and the collection of the blood sample. Please check with your medical aid cover how much they cover for genetic counselling, pathology and genetic tests performed in and outside of South Africa.

I think there is inherited colon cancer in our family, should I have a genetic test?

Not all colon cancers are inherited. It is recommended that you meet with a genetic counsellor who will assess if the colon cancer in your family is inherited. Genetic testing is best performed on a family member who has had cancer.

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Hereditary breast cancer


Are all breast cancers inherited or passed through a family?

No. Only 5 to 10% of breast cancers are inherited. Everyone has a 1 in 10 chance of developing breast cancer in their lifetime.

How is breast cancer inherited?

It is inherited in an autosomal dominant fashion. Meaning the risk for each child to inherit the gene fault from a parent with inherited breast cancer is 50/50 and this is the same for both males and females.

I have been diagnosed with breast cancer and I am the only one in my family. Does that mean that this is not inherited?

No. If you are Ashkenazi Jewish or Afrikaans there is an increased risk that the cancer may be inherited. Likewise, although your family members have not had breast cancer other cancers are associated with inherited breast cancer and this should be considered.

I am considering not having genetic testing for the BRCA genes as I only have sons?

Although men develop breast cancer less often than women, they are at risk for breast cancer and other cancers associated with breast cancer.

Is genetic testing for breast cancer available in South Africa?

Yes. Limited genetic testing of the BRCA1 and BRCA2 genes is available in South Africa but more comprehensive testing is available overseas. You may contact a genetic counsellor who will guide you through the genetic testing process and facilitate should you require genetic testing.

If I have genetic testing for hereditary breast cancer and no mutation is found, does this mean that I am not at risk for breast cancer?

No. If your family was assessed as high risk for hereditary breast cancer and genetic testing was performed but no mutation was identified does not mean that you are no longer at risk. Genetic testing for breast cancer is complex and a mutation is not always identified. It is important to realise that you are still at risk for breast cancer and should consider recommended screening.

Is there a cure for hereditary breast cancer?

Hereditary breast cancer cannot be cured but if you are at risk, screening and preventative measures are available to reduce the risk and affect of cancer on your life.

What causes hereditary breast cancer?

Hereditary breast cancer is a genetic condition that is caused by a fault (mutation) in one of two genes, BRCA1 and BRCA2, which are involved in preventing the development of cancer.

If I have a BRCA gene mutation does this mean that all my children have it?

No. Hereditary breast cancer is inherited in an autosomal dominant fashion meaning that there is a 50/50 chance for each of your children to inherit the condition from you.

What sample do they use for genetic testing?

A blood sample is used for genetic testing.

When should I worry that breast cancer is inherited in my family?

Please see When should you be concerned about hereditary breast cancer?

Who pays for genetic testing?

Genetic testing involves consults with genetic counselors, taking of blood samples and performing the genetic test. Most medical aids fund a limited amount for genetic counselling and the collection of the blood sample. Please check with your medical aid cover how much they cover for genetic counselling, pathology and genetic tests performed in and outside of South Africa.

How long does it take to get the genetic test results?

Usually about 2 to 3 months.

I think there is inherited colon cancer in our family, should I have a genetic test?

Not all breast cancers are inherited. It is recommended that you meet with a genetic counsellor who will assess if breast cancer in your family is likely to be inherited. Genetic testing is best performed on a family member who has had cancer.

If my test results are positive, how can I reduce my risk of cancer?

If your test results are positive may want to consider screening and preventative options which you may discuss with your genetic counsellor or treating doctor.

My grandmother and I have similar breasts and she had cancer. Does that mean I will definitely get breast cancer?

We look for traits/characters in family members who had cancer to figure out our risk for cancer. This is not a true indication of risk and you should discuss your concerns with your genetic counsellor.

Does preventative management for cancer always mean that I have to have an operation?

No.

I don’t have a family history of cancer but I have had breast cancer. Does this mean that I am not at risk for hereditary cancer?

No. Factors besides family history define your risk of hereditary cancer.

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Genetic testing


What happens when I go for genetic testing?

Genetic testing will not be provided unless you have been counselled by your medical practitioner, a genetic counsellor or a medical geneticist regarding the specific condition. Once you are informed of the benefits and limitations of the particular test you will be requested to complete a ‘Consent Form’ that details the terms of your genetic test. The choice to test remains yours. Please Contact Us should you have any questions or need more information regarding the testing process.

Who does genetic testing?

There are different laboratories in South Africa who perform genetic tests. You may not request a genetic test as you require a referral from your medical practitioner or a consult with your genetic counsellor. Please Contact Us should you need more information.

Can my DNA be used to test for other illnesses without me knowing?

No. For each genetic test you will need to consent to the use of your sample.

Can my insurance company get my genetic test result?

Your insurance company may not request the result of your genetic test without your consent.

Can my family access my genetic test results?

Your genetic test results will only be communicated to you, your genetic counsellor and/or medical geneticist, medical practitioner and any other medical professional for whom you have given your consent.

Does medical aid cover the cost of a genetic test?

The funding for a genetic test by your medical aid will depend on your provider and your medical aid plan. Please contact your medical aid for further information.

What are the genetic tests that you can buy on the internet or order online?

Genetic tests that you can order online are also known as direct-to-the-consumer (DTC) genetic testing. These tests use samples from inside of your mouth, by scraping with a little brush or swab. They test for various health and diet related issues or non-medical issues such as ancestry. If you want to find out more or make a decision regarding testing, please Contact Us or discuss with your medical practitioner.

What gene tests are available in South Africa?

The list of genetic testing available in South Africa is extensive. Should you require assistance with genetic testing and availability in South Africa, please Contact Us and we will refer you to the appropriate laboratory or clinical genetic service.

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