The importance of sample and data consent

The major threat to global public health that SARS-CoV2 presented led to an unprecedented pace of much-needed research and vaccine development. This simultaneously meant the acceleration of ethical procedures that inform research and the performance of controversial studies e.g. controlled human infection studies (CHIs), where purposeful infection with COVID-19 to study its mechanism of infection is performed. Such research raised concern with regard to the ethical, legal, social and clinical implications of infecting healthy volunteers, where the due process in any research is mandatory to consider the safety of the participant.

In general, genomics research involving human samples raises a number of ethical challenges such as consent, privacy, and the collection, storage and release of genomic data. In order to obtain valid consent from individuals involved in genomics and medical research, including SARS-CoV-2 and COVID-19 research, they must be adequately informed and the research must be understood, undertaken voluntarily, and provided by someone competent to do so.

Challenges exist in the designing and implementation of consent processes in regions with lower literacy levels. The provision of appropriate information in a comprehensible manner in genomics research is a critical challenge, as concepts around “genetics”, “genomics” and “data release” are complex to explain. Linking these concepts to more accessible levels of knowledge (e.g. that facial traits are inherited in families) may assist in narrowing this challenge. However, ensuring that all aspects of the genomics research are explained in this manner to obtain valid consent remains a critical obstacle.

Another ethical issue around sample and data consent is that the information produced from this research may affect additional people other than the participating individual. Privacy protection measures exist where personal identifiers are removed from genomic data, lowering the risk of revealing personal information. Yet, it is still possible for potentially stigmatising information about populations, communities or families to be revealed, which may have direct adverse effects on the individuals that consented to be involved, and indirectly on those with a relation to them.

These issues need to be addressed when designing consent processes for genomics research, even when faced with periods of emergency like the COVID-19 pandemic. Measures have been developed as guidelines through the collaborative development of informed consent document (ICD) templates. These are developed by and for genomics researchers in consultation with ethics committees, whereby discussions on consent procedures, challenges and best practices with researcher collaboration, participant privacy and safety, samples and data storage and so forth, take place.

Ethics review

Genomics research needs to obtain ethics approval from the relevant committees prior to the commencement of research. The review of genomics research can be challenging as the comprehension of the science may be difficult; the nature of the studies being hypothesis-generating rather than hypothesis-testing is complex. Teams must also consider how to generate of a large amount of data that can be analysed numerous times in various ways, and which may also be shared amongst research groups.

These are the main points of consideration that have been raised by ethics committees when assessing genomics studies:

• Ensuring participants give valid informed consent.
• Justification of exporting samples and procedures pertaining to the return or destruction of samples at the conclusion of the project.
• Ensuring the appropriate recognition of collaborative or local investigators and their contributions.
• Ensuring no harm will be brought to participating individuals or populations.
• Ways to assign benefits to the collaborating researchers or communities involved.

There are additional significant issues to review when obtaining valid consent for genomics research, which involves the importance of privacy protection. All personal identifiers that link an individual to genomic datasets must be removed, in order to reduce the risk of identification and to ensure anonymity. When performing large-scale collaborative research, such as the international efforts in the COVID-19 pandemic, ethics approval from a multitude of global committees is undoubtedly necessary. Due to the complexity of issues of consent and privacy, with different continents, countries, states and even institutions having varying requirements, there are major challenges in genomics research.

References

SARS- CoV- 2 challenge studies: ethics and risk minimisation

Genomic research data generation, analysis and sharing – challenges in the African setting

Ethical implications of the use of whole-genome methods in medical research

Ethical issues in human genomics research in developing countries

Informed Consent in the Genomics Era