What is genetic counselling? Genetic counsellors can help to translate complex medical science into concepts that are easily understood.
During the counselling session individuals and families are provided with information on the nature, inheritance and health implications of genetic disorders, in order to allow them to make informed medical and personal decisions. These include the choice of undergoing genetic testing based on the treatment options that are available, as well as informed decisions about pregnancy and childcare.
Accurate, full and unbiased information should be provided to individuals and families to enable them to make informed decisions about genetic testing and treatment/intervention options. All personal and medical information of patients are kept confidential and is not made available to others without permission of the tested individual.
Genetic Counselling Made Real
A Real-life story by Julie Malan: When our son was born on 14 March 2006 our life seemed perfect. At birth he weighed a healthy 3.95 kg but soon after we took him home he became nauseous and vomited after every feed. After consulting the paediatrician we took him to hospital where he was admitted without anyone knowing what was wrong with him. As the paediatrician was examining him he suddenly had a convulsion in his left arm. A CT scan was taken which showed that he had sub-dural bleeding of unknown cause and needed plasma and a blood transfusion fast. A neurosurgeon was called in and we were transferred to a paediatric ICU ward. Our whole world came to a standstill when we were told they are not sure what will happen through the night – “It’s not in our hands” are words I will never forget. They also informed us that there seem to have been bleeding in the brain in utero already and that could have caused some brain damage. They also could not go ahead and operate to relief the pressure on the brain, because they did not know what caused the bleeding. Blood tests were done to look at his clotting profile and the doctors kept him sedated to keep the head as still as possible. At that moment all we could do was to start praying and ask our friends to do the same.
The next day we were sitting on our usual place in front of the ICU together with my parents in law when the sister who looked after Ruan that day, came out on her way home. Just as she started walking away, she turned back and said to us, “Oh by the way, your son has Haemophilia A and needed factor VIII.” Being a genetic counsellor I immediately realised that this is an X-linked inherited condition, meaning that I was a carrier of the mutation, passing it onto our son. I also thought of my daughter who now had a 50% chance of also being a carrier and then also have a 50% chance to have affected sons. With regards to my son, all his daughters will be carriers of the Haemophilia A gene mutation.I felt that I would have liked to receive such news about a genetic condition in privacy with my husband. My husband and his parents turned to me asking me what this meant, and I had to tell them that this was an inherited disease and that I might well be the carrier of this mutation, passing it onto our son. All I felt at that time was guilt for passing this onto our son and anger at the sister for the way she chose to break this news to us. Suddenly I had to think of how many times I told parents not to feel guilty about the genes they pass on to their children because we cannot choose our genes, and now I had to believe it myself. My husband and I had a counselling session with a psychologist that evening which helped us deal with our emotions. As a genetic counsellor I again realized what an important role counselling has in genetic diseases, not only in the way we break bad news to our patients, but also how we support them and help them work through their emotions. I had to go through a process of working through this unexpected news and wondering if there wasn’t a way I could have prevented this from happening. My mother had a son almost 40 years ago who only lived 7 days and was said to have had a Vitamin K deficiency. She is one of 10 children – 5 brothers and 5 sisters all with their own children and grandchildren, and no other case of Haemophilia. So, with that history, no-one would have thought to test for Haemophilia.As a genetic counsellor, I once again became conscious of how often people don’t take the emotional aspects of breaking bad news into consideration. It made me appreciate just what an important role we as genetic counsellors and medical professionals play. It is our responsibility to make sure our patients can cope with bad news and to help them work through the bad news in such a way that they can carry on with their lives.
Julie laid the foundation for the genetic counselling support provided by Gknowmix from 2007, after working as a GeneCare consultant from 2003-2007. She is a registered genetic counsellor who graduated in 1993 with a BSc degree from the University of Pretoria and obtained her MSc degree in Genetic Counselling 5 years later. In 2003 Julie registered as the first private practicing genetic counsellor in South Africa. She currently works in Pretoria at Ampath. Accredited laboratories such as Ampath are instrumental in the application of pre-screen algorithms used to develop a pathology-genetic testing framework for implementation of genomic medicine in Africa.
Who needs genetic counselling?
Genetic counselling by a registered genetic counsellor is strongly recommended in parents with a child diagnosed with a genetic disease, or in individuals who are concerned about an inherited condition in the family. Pregnant women and those who plan to have children after the age of 35 should be encouraged to seek genetic counselling, as well as individuals who are concerned about genetic conditions that occur frequently in their ethnic group (e.g. Jewish or Afrikaner population).
Who provides genetic counselling?
Registered health care professionals who have knowledge and understanding of genetic diseases and who were trained to offer supportive counselling provide genetic counselling. The purpose of genetic counselling is to provide an individual or family with current information and supportive counselling (advice or guidance) regarding health problems that may have a genetic basis. This can help families and individuals to understand and adjust to the diagnosis of a genetic condition and consider available treatment options.
Why genetic counselling?
Genetic counsellors can help to explain complex medical science into concepts that are easily understood. They translate scientific knowledge into practical information. Through genetic counselling, a supportive atmosphere is created for individuals to discuss their concerns, ask questions and make an informed decision that is right for each individual. Both verbal and written information may be provided to assist individuals with some issues that may arise from genetic testing.
What happens during the counselling session?
An assessment of the family history is performed regarding an inherited condition in the index case, to determine the risk implications for close relatives. A detailed explanation of all possible risks and the role of genetics in the medical condition of interest are discussed. Advice is also provided on available genetic tests, and the potential importance for reference to a clinician for physical examination and the possible performance of relevant laboratory.
Pre-test assessment is performed to determine the appropriateness of genetic testing in a specific individual and to discuss the potential benefits and limitations of genetic testing. This could prevent possible psychological harm or unrealistic expectations of test results.
Post-test counselling should address the implications of a positive or negative test result, the limitations of the specific test procedure, disease penetrance, preventive measures or treatment options, etc.
Matching the type of test to the level of counselling
Genetic testing provides information related to both the tested individual and his/her close family members, therefore the ideal situation would be that both pre- and post-test counselling be provided by registered genetic counsellors to all patients referred for genetic testing.
In general the following levels of counselling/consultation (genetic testing service delivery) will apply preferably in a multi-disciplinary team approach, based on the type of molecular genetic test performed (exceptions are based on level of experience and fulfilment of accreditation criteria):
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Prenatal testing performed during pregnancy to assess the genetic status of a foetus. |
Prenatal diagnostic tests are offered when there is an increased risk of having a child with a severe genetic condition, usually on the basis of the family history. |
Registered genetic counsellor |
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Identity testing in healthy individuals |
Determine family links / origin, for forensic purposes or to confirm or exclude paternity. |
Registered genetic counsellor |
Confidentiality and informed consent
Accurate, full and unbiased information should be provided to individuals and families to enable them to make informed decisions about genetic testing and treatment/intervention options. It is of critical importance that any genetic information be treated as confidential and that such information is not made available to others without permission from the particular individual who agreed to be tested. Where appropriate and as a general principle, the person who provides pre- or post-test consultation for genetic testing should provide a written explanation regarding the implications of the test results for patient management to the relevant clinician.
The following issues should be explained where relevant to each individual before specimens are collected for genetic testing:
- Inheritance pattern of the condition for which information is sought and the role of genetic vs environmental risk factors.
- Detection of genetic alterations (positive DNA test) implies that other family members may also have the genetic change(s).
- Failure to detect a specific genetic alteration (negative DNA test results) does not exclude undefined gene mutations or other risk factors not tested for.
- The genetic test will only screen for specific genetic alterations expected to provide useful information, e.g. for diagnosis, drug response/toxicity, or risk factors for implementation of risk reduction intervention.
- Early detection or pre-clinical diagnosis of treatable or preventable genetic diseases is beneficial, except if it has a negative effect on psychological well-being.
- Genetic testing may result in better motivation for lifestyle changes or targeted treatment, or possibly anxiety when genetic risk factors are identified in an individual without clinical symptoms of a disease.
- The genetic material is stored for reference purposes or to perform follow-up testing and may be included in a genetic database for research related to the test requested, unless declined.
- Identification of genetic alterations in individuals with a family history or clinical features of the associated disease is unlikely to impact further on insurance, while exclusion of a genetic defect in a family member could be beneficial for insurance purposes in most instances.
- A positive genetic test does not mean that the person has a genetic disease or will develop it, but it can increase the risk to develop clinical disease if left untreated.
