Genetic Care Centre

You are invited to participate in a combined clinical service and research programme that involves the application of personalised genomic medicine. Rather than using the former “one-size-fits-all” approach to disease prevention and treatment protocols, healthcare professionals from different academic institutions and private practices have joined forces to 1) study the role of genetics in health and disease and 2) use this information in routine clinical practice to facilitate clinical management. Application of what we know today may lead to better clinical care tomorrow with new insights gained through collective knowledge.

A questionnaire is used as a screening step to direct appropriate genetic testing and may also be used to monitor your response to treatment in future. If you proceed with filling out the questionnaire you will be asked about your family history, personal medical conditions, medication use/side effects, exercise program and other lifestyle factors that may influence gene expression. Pathology tests may reflect the combined effects of gene-environment interaction and therefore information on (previous) clinical assessments may be obtained from your doctor. Your participation will enable the researchers to improve the tests and interpretation of results as new discoveries and actionable information become available that may benefit you or other people in future.

By providing consent for research participation, you agree to take part in a study focused on the application of personalised medicine using an integrated service and research approach (Project number N09/08/224):

You need to :

  • read the full participant information leaflet or had this information explained to you in a language with which you are fluent and comfortable.
  • understand that you can ask questions any time and all your current questions must be adequately answered.
  • understand that taking part in the research component of this genetic service is voluntary and you have not been pressurised to take part.
  • understand that withdrawing from research participation at any time will not affect your current medical treatment.
  • may be contacted by any of the clinicians and researchers involved in this project in the event that additional information is required.
  • Indicate the option you choose:  >>  Please use the paper form if provided or make your choice of sample and data handling online by following the 5 easy steps below.

    STORE SAMPLE: I agree that my blood or tissue sample can be stored indefinitely but I can choose to request at any time that my stored sample be destroyed. My sample will be identified with a special study code that will remain linked to my name and contact details. I have the right to receive confirmation that my request has been carried out.  My sample may be shipped to another laboratory in SA or abroad to be used in other research projects in this or a related field without revealing my identity.


    DECODIFY SAMPLE: I agree that my blood or tissue sample can be stored indefinitely after the project is completed but that it is anonymised with all possible links to my identity removed, and that the researchers may then use it for additional research in this or a related field. My sample may be shipped to another laboratory in SA or abroad to be used in other research projects in this or a related field.


    DESTROY SAMPLE: Please destroy my blood or tissue sample as soon as the current test/research project has been completed.

     NOTE: It is important to clearly indicate your choice of sample handling on the informed consent form to be provided at referral: 1) If you request that your sample and associated information should be destroyed after completion of genetic testing linked to the development of a research database, we will not use it for research or extended genetic testing that may be necessary after the initial screen; 2) If you indicate that we may store your sample and other data in a biobank and genomics registry after your report was provided, it will be used in student training and research for the purpose as explained in the information leaflet (available on request); 3) If you want us to separate your name from the number we allocated to your sample (decodify) before it is used in research, we will not be able to let you know about any results that may be useful.

    The following 5 steps are required to request a test online with an option for sample and data storage for research:

    1) REGISTER ONLINE: Register / Login with your unique password at by choosing the option “Registered Healthcare Practitioner”. Please provide your practice number. Clients who register as a “Member of the Public” will be required to provide the name and e-mail address of the referring clinician.

    2) REQUEST A GENETIC SERVICE ONLINE:  Click the button “Request a Service” and choose the Wellness or other required GeneSreen or request genetic counselling online if the patient requires more information. The questionnaire developed for the Wellness Genescreen (6-pathway NCD assay)  “is used as a screening step to direct appropriate genetic testing and may also be used to monitor response to treatment in future” as explained above to determine the need for extended genetic testing using whole exome sequencing (WES).

    3) PROVIDE THE NECESSARY INFORMATION:  Under Service Options, select the required test type in the first line of the online form and complete the screens for the patient as far as possible. If the patient does not have an email address please provide your practice email address. Some of the pathology results may not be available at the time when the test is requested and may be added at a later stage by editing the profile.

    4) PAYMENT:  Click the button to view the quote with the price and relevant medical aid tariff codes, in the event that research/payment arrangements have not already been made.

    5) SPECIMEN COLLECTION AND TRANSPORT: Please click the button “Sample ready for collection” to arrange for sample pick-up or e-mail
    EDTA blood (purple top tube) can be used for all DNA tests or a test kit can be requested from the participating laboratory. All samples are transported at room temperature.

    CONTACT DETAILS OF THE RESEARCH PROGRAM LEADER: Prof Maritha J Kotze.   Tel +27 21 9389324   Fax: 0866009434     Email:

    The laboratory work is performed at facilities that are equipped to perform diagnostic testing of the highest standard, while interpretation of the results remains the responsibility of Clinicians and Medical Scientists involved in the test and report template development process.

    Maritha Kotze

    From left to right: Caroline Daniels (nurse research assistant), Dr Corne Kruger (gastroenterologist), Prof Maritha Kotze (supervisor) and Prof Johann Schneider (Head of Department of Pathology, Stellenbosch University). Corne obtained his PhD on a study of clinical and genetic aspects of non-alcoholic fatty liver disease (NAFLD).Dr Corne Kruger’s Website