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Genetic counselling

 

What is genetic counselling? Our 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.


The following steps are required to request genetic counselling:

1) REGISTER ONLINE: Register / Login with your unique password at www.gknowmix.com by choosing the option "Member of the Public". You do not have to add a health professional name etc. to request counselling, but you are welcome to add your own doctor's contact details who will then get an email to invite him/her to register on the website to receive a copy of your report should you decide to proceed after the counselling process. Submit and proceed to step 2.

2) REQUEST A GENETIC SERVICE ONLINE: Click the "Genetic Counselling" button to request this service.

3) PROVIDE THE NECESSARY INFORMATION: Under Service Options, select the required counselling type in the first line of the online form (may keep "general" provided as the first option) and complete the screens as far as possible. Submit and proceed to step 4.

4) PAYMENT: Click the button to view the quote with the price and relevant medical aid tariff codes. To complete the request press “Accept and Save Changes” indicated in the middle of the quote that will also be e-mailed to you. 


 

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. However, it is now accepted internationally that because of the small number of registered genetic counsellors available and the diversity of the types of genetic tests on the market, other knowledgeable healthcare professionals will need to help educate their patients and the public about the genetic basis of monogenic and multi-factorial diseases, the clinical/biochemical consequences, and the genetic testing options that are available.

 

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):

 

Type of test

Purpose of test

Level of counselling

Diagnostic testing of inherited disorders in symptomatic individuals to aid in their diagnosis, treatment and management.

Confirm or refute a possible diagnosis or to enhance the diagnostic reliability and management of a disease.

Registered genetic counsellor

Clinical geneticist

Medical specialist

 

Presymptomatic testing for autosomal dominant, recessive or X-linked disorders in healthy or asymptomatic individuals to provide information about that individual's future health.

Exclude the gene defect(s) previously identified in the index case in close relatives and to identify those with a high likelihood of developing the disorder due to the presence of the gene defect(s) for prophylactic surgery, family planning, termination of pregnancy, preventative treatment, etc.

Registered genetic counsellor

Clinical geneticist

Medical specialist

 

Carrier testing to detect individuals who possess a single copy of a gene, which follows an autosomal recessive or X-linked pattern of inheritance in an affected family.

For family planning since carriers will not normally develop the disorder but may pass on the gene mutation to his or her offspring.

Registered genetic counsellor

Clinical geneticist

Medical specialist

General practitioner

Specialist nurse

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

Clinical geneticist

Medical specialist

Specialist nurse

Pre-implantation testing as an alternative to prenatal diagnosis for couples at risk of a specific disease in their offspring, unexplained recurrent spontaneous abortion or infertility problems.

To exclude selective termination by transferral of disease-free embryos to the uterus, including donor screening.

Registered genetic counsellor

Clinical geneticist

Medical specialist

Specialist nurse

Prognostic testing for risk assessment in patients with a specific condition

 

Determine the appropriateness of specific therapy or shorter surveillance intervals in patients at risk of conversion from pre-disease state to disease development or recurrent disease.

Registered genetic counsellor

Clinical geneticist

Medical specialist

Specialist nurse

 

Treatment option predictive testing (pharmacogenetics) performed in affected individuals with treatable conditions

 

To determine the appropriateness of specific therapy that may affect expression of a defective gene, or to pre-determine response to drug treatment.

Registered genetic counsellor

Clinical geneticist

Medical specialist

General practitioner

Supporting health professional, e.g. pharmacist, nurse, social worker, geneticist

Treatment option susceptibility testing (nutrigenetics) performed in affected individuals with treatable conditions, in healthy individuals with risk factors for the disease and healthy individuals who want to reduce their potential risk of future disease.

Identification of genetic risk factors to obtain information about the genetic component in a multi-factorial disorder that can be used as specific targets for risk reduction intervention.

Registered genetic counsellor

Clinical geneticist

Medical specialist

General practitioner

Supporting health professional, e.g. registered dietician, nurse, social worker, geneticist

 

Identity testing in healthy individuals

 

Determine family links / origin, for forensic purposes or to confirm or exclude paternity.

Registered genetic counsellor

General practitioner

Supporting health professional, e.g. nurse, social worker, geneticist.

 

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.


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