Biobanks are in short supply in South Africa, a place whose inhabitants have some of the greatest genetic diversity in the world. These repositories of human tissue, used for health research, could save lives as scientists find links between diseases and population groups – and, possibly, cures to currently untreatable diseases. But in giving consent for researchers to use your tissue, you are in effect also giving consent on behalf of your parents, family members and children – and possibly all those who share your genetics.
Biobanks are “a major advance in terms of science and technology”, says Professor Ames Dhai, director of the Steve Biko Centre for Bioethics at the University of the Witwatersrand.
A bank containing hundreds of thousands, possibly even millions, of samples with the donors’ medical and demographic information would allow scientists to conduct research with the possibility of statistically significant results. This could pave the way for personalised medicine tailored to South Africa’s population.
Yet biobanks are not mentioned in South Africa’s National Health Act of 2003, which governs human tissue usage, for therapies or research. Department of health deputy director general Terence Carter told the Mail & Guardian that workshops are planned to plug holes in the current law and regulations, and that ethicists will be included in these discussions.
This is “a scientific tissue issue, but also a major ethical issue, so we are bringing together the experts in ethics as well as cell technologies and genetics”, Carter said.
A major question in this area is the notion of consent, and what it means to give informed consent.
“Informed consent has different applications,” says the deputy dean of law at the University of South Africa, Professor Melodie Slabbert. “[You have] medical treatments on the one hand, such as between doctor and patient, and research between research participant and researcher on the other … Consent has specific legal requirements for it to be regarded lawful and valid consent.”
Dhai, in a 2008 article in the South African Journal of Bioethics and Law, says: “The traditional Hippocratic belief that one could do almost anything on a patient as long as the principles of beneficence (best interests) and non-maleficence (no harm) were upheld has been considerably revolutionised over the last century.”
Today, before a healthcare professional administers treatment to or conducts surgery on a patient, they need the patient’s – or a proxy’s – “informed consent”.
Informed consent requires that the patient has been informed about the procedure and its risks, benefits, possible alternatives and costs, Dhai says. She notes that patients are sometimes not informed about the full costs of their treatment beforehand.
She also says: “Informed consent is a process, not a signature on a piece of paper at a point in time. It is not just information; the healthcare practitioner must ensure that the patient understands the information, otherwise they are only paying lip service to informed consent.”
The law and responsibilities to do with medical treatments are well established, but those regarding biobanks are not, especially when it comes to the question of consent.
“The fundamental issue is the patient’s competency to make the decision [to have their tissue used for research],” says Jacquie Greenberg, a professor of human genetics at the University of Cape Town. “When I ask a patient for cells, do they know what I am asking for? Do they understand what we are going to do with the sample?”
These questions become even more complicated when the patient or donor’s tissue is stored indefinitely. Though they might have originally given their consent for their tissue to be used for a certain research project, it is possible that – if it is stored in a biobank – their tissue will be used as part of another study for which they had not explicitly given consent.
“Tissues are stored and the data is stored, and research may be done [on that tissue sample] many years later, even by different researchers. This could be important research,” Dhai says. “How does one go back to the participants [of the first study]? Is it always possible to get back to the participant who gave the tissue for every project? It’s not. It’s too costly and slows down important research.”
Also, “if you look at biobank research and genomics and genetics research, you have to look at an intergenerational period of 25 to 30 years”, Dhai says. “With informed consent, you have to tell participants exactly what is going to happen and the exact research projects that are going to be done. It is impossible to know what research questions will come up later.”
Asked about biobanks, Medical Research Council president Glenda Gray said: “It allows the opportunity to make new discoveries … [but] it is important that it is regulated to avoid exploitation [by pharmaceutical companies or other countries].” She noted that all research conducted in this area would require ethics approval.
“The important thing is how to regulate it, that it isn’t exploited and that samples that are accessed go through a rigorous ethical review,” she said.
The reality is that genetic research does carry risks, in the form of stigmatisation and discrimination. “DNA is a unique identifier,” Oxford University’s Jane Kaye told a conference in 2013. “This makes it difficult to make it anonymous.”
A group of Native Americans has become a cautionary tale in genetic privacy: they offered their DNA to a study that was looking at diabetes among this population group. But this data was reused, without their consent, to look for a genetic predisposition to mental illness. These findings were published in journals and media, and now that community is associated with mental illness.
“It is important that we acknow-ledge that [stigmatisation and discrimination] can happen,” Dhai says. “That is why it is important to speak to the individual [involved in the research]. We need to inform them that this is a possibility … Research ethics committees will only okay research where the benefits outweigh the risks.”
But the question of consent for this type of research remains, as well as how to balance the privacy of the individual with the wellbeing of society.