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.
EXAMPLE OF A SUCCESSFUL PREVIOUS PROJECT: 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
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.
CODE OF CONDUCT FOR RESEARCH TRANSLATION
The Code for Research does not apply to the following research or research-related activities: market research, political and public opinion polling, audits, quality assurance or programmatic monitoring and evaluation; or other research where the purpose is not directly to contribute to the improvement of knowledge through peer-reviewed publication.
Technologies that generate genetic information are rapidly advancing and the associated costs for generating such data are decreasing, making research which generates and processes genetic data more accessible and affordable. There is substantial and translational benefit to genetic/genomic approaches in research and health, heralding new understanding of disease epidemiology, diagnostics and therapeutics. Going forward, it is essential to ensure that no one is left behind in the genomic revolution and that all can benefit from research that could lead to beneficial innovations such as personalised medicine. For this vision to be actualised, it is imperative that the genomic data that are publicly available are also representative of all people. This means, at least in part, that South African data should continue to be made available both nationally and internationally for analysis and re-use for the advancement of science. This is in line with established standards in open science and genomics research that include many journals and funders requiring research data sets to be made available and researchers sharing their data in the spirit of open research and collaboration.
It is important that community engagement and individual engagement processes precede informed consent to explain the risks and how they would be mitigated. It may also be useful to consider the addition of a right not to have one’s personal data deidentified, as once de-identified, the individual to which the personal information originally related has no rights over that information, such as a right to access or delete it. In which case, it may be prudent to include de-identification of personal information as an express item a data subject must provide consent for. Additional safeguards which would be relevant to genomic research include provision of detailed information related to data access and use, by the researchers, and the informed consent process for the participant should specifically refer to any potential data sharing (nationally and internationally). A risk assessment should be conducted by the responsible party to determine the likelihood that an individual could be re-identified, and such assessments should be included in ethics review processes. Confidentiality certificates with consent to limit access could also be considered.
Information matching programmes:
Information matching, for example through two or more spreadsheets, using code/macros to link sources via an identifier, can be achieved in several ways: (1) non-algorithmic means such as the comparison or combination of data across multiple data sources, or (2) algorithms. When using algorithmic means, information matching can be generally, but not exclusively, performed via machine learning and artificial intelligence (AI).
It is important to note that information matching for cost-effective purposes may be an important enabler for the research community to minimise the amount of personal data that is collected, sometimes from over-researched communities, in order to comply with the principle of data minimisation.
Genetic and biometric data are not separately defined under POPIA. Genetic data are understood as personal information relating to the genetic characteristics (inherited or acquired, e.g. through mutations in cancer cells) of a person that provides unique information about that person. In cases where genetic ‘uniqueness’ can be considered biometric data, these data would require a lawful basis for processing, subject to POPIA regulations.
Consent for processing personal information of a child:
The DoH Guidelines provide detailed insight into how child consent should be construed which go beyond what is provided under POPIA. Importantly, it is for the child, when of an age to consciously do so, to make the decision to consent and the parent (or competent person) to provide permission. Paramount is that the best interests of the child be considered and upheld. Some additional considerations include whether consent should be re-obtained when the child reaches 18 years, reflecting the child’s evolving maturity and capacity to give consent. In addition, there are certain matters where, for reasons of sensitivity, it may be desirable and ethically justifiable for minors to consent independently of a competent person. This is particularly important for research where children may not be willing to participate if their parents must know about the nature of the research in order for permission to be obtained. Finally, appropriate risk standards similar to those used in the DoH Guidelines should be developed for POPIA.5
Information and samples:
Information as a standalone term is not defined within POPIA. However, personal information under the Act means information relating to an identifiable, living, natural person, and where it is applicable, an identifiable, existing juristic person.
For research purposes under POPIA, this implies that a human biological sample by itself – that is not inherently identifiable and which is collected during the research process – does not fall under POPIA’s definition of personal information. [Note, however, that the European Data Protection Board has recently prescribed that genetic data be treated as personal data under the GDPR.12(para.51)] Human biological samples would therefore fall under the scope of the National Health Act 2003, its Regulations and DoH Guidelines.
The question around whether potentially identifiable samples constitute personal information is debatable. Yet, POPIA is clear that the personal information must relate to an identifiable, living, natural person. Without any national case law providing clarity and the provisions of the Act open to interpretation, uncertainty and ambiguity remain problematic regarding the exact point at which biological samples become personal information as contemplated under the Act. For the purposes of the Code, human biological samples themselves should fall outside the remit of POPIA until identifiable information relating to a natural living person is derived from the sample.
POPIA Public Consultation Forum on 03 May 2021
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 www.gknowmix.com 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 firstname.lastname@example.org
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.
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.