As the era of genomic medicine dawns, large-scale genomics projects are becoming increasingly central to health care advancements. Projects like FinnGen in Finland, the UK Biobank, and the All of Us initiative in the United States are charting new frontiers in precision medicine, enabling researchers to unlock the genetic codes underlying a wide array of diseases. These initiatives collect genetic data from hundreds of thousands of individuals, providing an invaluable resource to identify disease markers and tailor medical treatments to individuals’ genetic makeup. Such projects are not only pushing the boundaries of medical knowledge but are also laying the foundation for a future where treatments are more effective and personalized.
However, in the Global South, large-scale genomics projects are far fewer. Qatar has taken strides with its own Qatar Genome Program, but examples are still limited across Africa and other regions, where genomics research is often constrained by funding, infrastructure, and representation issues. In Africa, where genetic diversity is high but research representation has historically been low, the need for such projects is critical. Without local genomics data, the benefits of precision medicine may largely bypass African populations, further exacerbating global health inequities.
In South Africa, the 110,000 Genomes Project is set to change this. South Africa plans to join the ranks of countries undertaking large-scale genomics research, with an ambitious goal of sequencing the genomes of 110,000 South Africans. This project has the potential to make a significant impact, not just on global science but also on healthcare outcomes for South Africans. For example, the 110,000 Genomes Project will enable the identification of unique genetic variants within South African populations, allowing for treatments tailored to specific genetic differences. Also, by developing reference genomes reflecting South Africa’s diversity, the accuracy of diagnostics and treatment planning for individuals can be improved. Together, these advancements hold the potential to revolutionize healthcare, creating targeted treatments for diseases that disproportionately impact the population. However, critical questions remain about how the project will be structured, who will control the data, and how the privacy of participants will be safeguarded.
Legal and Ethical Challenges
As in other countries, South Africa’s 110,000 Genomes Project introduces numerous legal and ethical challenges, particularly surrounding issues of privacy, data sovereignty, ownership, access, and benefit-sharing. One of the major legal challenges is balancing participants’ privacy rights with the need to make genomic data available for research. South Africa’s Protection of Personal Information Act (POPIA), which predates the General Data Protection Regulation (GDPR) in Europe but shares similar values, provides strong privacy protections. However, the societal benefits of using genomic data are profound.
To ensure legal compliance, members of my research group, based at the University of KwaZulu-Natal in South Africa, have proposed an open consent model that may offer both a legal and ethical solution. Inspired by the Harvard Personal Genome Project (PGP), this model allows participants to make an informed decision to waive their privacy rights concerning their genomic and medical data, explicitly instructing the research institution to publish their data online and make it accessible to researchers worldwide. This approach respects participant autonomy, enabling individuals to voluntarily contribute their data for the advancement of science.
The open consent model emphasizes the importance of ensuring that participants fully understand the risks involved in making their data public. This involves an objective assessment to confirm that participants comprehend these risks before consenting. For example, prospective participants can be required to complete a set of 20 multiple-choice questions testing their understanding of the privacy-related risks involved in making their data public — and attain a sufficiently high score — before being accepted into the study. The Harvard PGP demonstrates that, with appropriate safeguards, it is possible to share genomic data openly while minimizing potential privacy risks, offering a viable solution for the 110,000 Genomes Project.
Affirmation by the Constitutional Court: Botha v. Smuts
Our legal interpretation of open consent, based on South Africa’s POPIA, was theoretical until recently. However, it has now been affirmed by a recent Constitutional Court judgment in Botha v Smuts. The Court held that individuals can effectively waive their privacy rights when they voluntarily disclose information online. In this case, Mr. Botha disclosed certain personal facts about himself on social media, and the Court found that, because of this voluntary disclosure, he no longer had a reasonable expectation of privacy over that information.
This principle is directly applicable to the 110,000 Genomes Project. Participants who opt for open consent would voluntarily waive their privacy rights, in line with the legal reasoning in Botha v Smuts. As part of this open consent, participants would instruct the 110,000 Genomes Project to publish their genomic and associated medical data online — accessible to anyone. Given this voluntary disclosure, POPIA’s protective provisions related to data collection and further processing would cease to apply. Thus, modeling South Africa’s 110,000 Genomes Project on the Harvard PGP becomes not only legally sound but also a practical way forward.
The Benefits of an Open Consent Model
An open consent model could offer numerous benefits for South Africa. First, it would make the data widely accessible to researchers, accelerating scientific progress and potentially therapeutic innovation. Second, it would enhance autonomy by ensuring that participants are truly informed about the risks and benefits of participation. Third, it would promote global collaboration, allowing researchers around the world to contribute to medical advancements that could directly benefit South Africans.
In conclusion, while there are challenges to be addressed, the 110,000 Genomes Project has the potential to transform healthcare in South Africa and beyond. By adopting an open consent model, the project can strike the delicate balance between respecting individual privacy rights and advancing the public good. And with the recent Constitutional Court judgment affirming the principle of voluntary privacy waiver, this vision is not only possible but legally sound.
