Picture: ISTOCK
Picture: ISTOCK

IT COULD change the way disease is diagnosed and treated: millions of human tissue samples, their information stored in vast databases, allowing health researchers to trawl for patterns.

The patterns could point to disease risk among population groups, and could one day lead to the possibility of personalised medicine. This sort of research is particularly important for Africa, whose populations are caught between infectious diseases, such as malaria, on the one hand, and lifestyle diseases, such as diabetes, on the other. Africans have historically been neglected in the field of genetic research.

"The unique genome dynamics in African populations have an important role to play in understanding human health and susceptibility," Wits University’s Prof Michele Ramsay, chairwoman of the South African Society for Human Genetics, wrote in 2012.

But the technological developments bring with them uncharted ethical territory: how does a person give consent — not just for their own samples, but also for their children, parents, siblings, and anyone who shares their genetic material? Can a person with limited or no education understand the consequences of donating tissue samples for genetic analysis and reuse?

The power of these databases, known as biobanks, lies in the ability to obtain statistically relevant patterns, and in the fact that they can be "re-mined" for a variety of research questions. A person who donates their genetic material could be acquiescing to future research that may be conducted on it.

There is a cautionary tale about re-mining genetic data: In 2013, the Havasupai Indians, who live in the Grand Canyon in the US, forced Arizona State University to return their DNA. Researchers collected samples from them between 1990 and 1994, with the community understanding that the research would investigate their high rate of diabetes. Over the next decade, about two dozen papers were published from the blood samples collected, dealing with schizophrenia risk to inbreeding in the tribe. A long-running court battle finally saw the samples returned and damages paid to the community.

According to Human Heredity and Health in Africa (H3Africa), informed consent is a challenge. The initiative aims to drive the study of genomics and environmental issues that affect the health of African populations. It has three biobanks on the continent.

According to its 2013 guidelines on informed consent, this is a major challenge facing its researchers.

For example, how do you explain complex concepts such as genomics, but also that genomic data and, increasingly, genomic material, can be used for secondary analyses by investigators who were not involved in the original project?

This is particularly difficult in communities in which people have only a basic education, and are not familiar with these concepts.

...

IN A special issue of the South African Journal of Bioethics and Law, published in September 2015, ethicist Prof Ames Dhai and co-authors write: "We believe that because biobank research involves the contributions of a large number of people, its ethical emphasis should hinge on the utilitarian common good.

Due to the nature of biobank research, the focus on individual autonomy and informed consent is seriously challenged."

Biobanks are not mentioned in the National Health Act of 2003, which regulates human tissue usage for therapy and research, although there are regulations on the handling of tissue samples and organ donations.

Department of Health deputy director-general Terence Carter says the department is revising several regulations with respect to the National Health Act that will be published soon. They will tackle the regulations on biobanking within the next 24 months. "It’s the ethics on the one hand, and on the other, it is about ensuring that we are compliant with the general principles of the health act, such as whether one can profit from human tissue, and how you ensure that vulnerable people are protected."

Dhai says that the Department of Health’s 2015 guidelines for ethics in health research made a number of suggestions regarding types of consent. "There has been movement in the country with regards to consent," she says. "That is, on broad consent: it’s not a (form of) consent that is frowned on anymore."

With broad consent, donors agree their tissues can be used for future health research in a related area, and they rely on university or institutional ethics committees to decide whether a researcher’s proposed project is ethical.

"It’s not going to be possible to have … informed consent, in the true sense of the word, because one never knows what one is going to do years down the line," Dhai says. "How does one trace a participant maybe 25 years later?"

Prof Michael Pepper, director of the Institute for Cellular and Molecular Medicine at the University of Pretoria, says that there has been a "definite move towards embracing broad consent and the reuse of samples and data. All of this was taboo in the past. African countries have been among the most resistant, but are coming around."

The thorniest problems for biobanking are privacy and ownership of the information.

...

DR CIARA Staunton, a research fellow at the Centre for Medical Ethics and Law at the University of Stellenbosch, asked what happened when samples or data were exported, in an address to the annual Advanced Research Ethics Training in Southern Africa seminar last month.

"You donate your samples under the South African regulatory system, but if they are (exported to) another country, they fall under another regulatory system. Who has oversight of the samples if they are in another country?"

She cited the partnership between Discovery Health and Human Longevity, which is owned by American geneticist Craig Venter.

The aim of the collaboration is to create a database of exome information. An exome is all the expressed genetic information of a genome. Who would own and be accountable for this data? Staunton asked. Although Human Longevity promised the data would be "de-identified", Staunton said "privacy can no longer be guaranteed in the digital age".

Donors who provide genetic material can’t give consent for their relatives too, Dhai says. "There is no room in the law for that. Is there room in ethics?" Perhaps. She says that consent could also perhaps include relational consent. "When you’re looking at consent, we’ve gone very individualistic, very western. It’s good, it’s important.

"However, in situations where dilemmas could arise because of this, could the law not allow for consent to be relational?"