OU scientists spearhead international effort to remove global health barriers

A human genome is the total blueprint of a person’s DNA. Not only does it contain their ancestry, it can also reveal risk factors for certain diseases and yield insights to create customized medical treatments.

Genomic studies are critical to achieving breakthroughs that can improve human health. While genetic data is widely available for populations of Western European descent, other populations are underrepresented in genomic studies.

Oakland University researchers are doing their part to chip away at this problem and put underrepresented countries on the map of the world’s genetic diversity.

In 2021, a team of OU researchers led by Taras Oleksyk, associate professor of biological sciences, collaborated with scientists around the world to publish the largest study of genetic diversity ever conducted in Ukraine. The study was part of ongoing international efforts, not only to support science in Ukraine during wartime, but also to map genetic diversity throughout the entire world.

Though progress has been made, plenty of obstacles persist, particularly in the developing world, where many countries don’t pursue large-scale genomic research.

In a pair of recently published Nature Portfolio journal articles, Oleksyk partnered with scientists at Oakland University and around the world to find out why some countries don’t have nationwide genomic studies and discuss ways the scientific community can work together to change that.

The first article, published in Nature Methods, documents lessons learned from an international panel of scientists surveyed about the challenges their countries face in establishing national genomic projects.

Oleksyk and Walter Wolfsberger, an OU postdoctoral fellow and major author on the paper, assembled the responses of 40 researchers representing 19 countries across five continents.

Khrystyna Shchubelka, a former OU postdoctoral fellow and newly appointed OU adjunct professor – who also coordinates type 1 diabetes research in Ukraine as part of another OU-led initiative – worked with researchers from Dr. Sergei Mangul’s lab at the University of Southern California to contact the scientists involved in the survey.

Based on the survey’s results, the paper identified nine main barriers to starting national genomic projects – from lack of awareness, to funding constraints to ethical concerns – and offered recommendations for navigating them. 

These issues need to be addressed, Oleksyk said, so that scientists can continue to fill in gaps on the human genome map and ensure that advancements in biomedical research and genomic medicine are universally accessible.

“An incomplete map may still be useful, but it is not good enough if you need to travel safely, understand where you are or see what is missing,” he explained. “Human genetics is similar. We need a more comprehensive map of human genome diversity to understand the full range of human biology and disease.”

The Nature Methods paper noted that success of broadscale, cross-population genomic research requires, among other things, a commitment to open data standards where knowledge can be exchanged across national borders. Figuring out the best way to do that is the central question of the second paper, which was published in Nature Genetics.

That paper presents three methods of data distribution (centralized, federated and decentralized), explores the benefits and drawbacks of each and develops a framework for balancing ethical and practical considerations with the free and open exchange of scientific data.

Noting the vulnerabilities of centralized biological data repositories, such as cyberattacks and funding disruptions, the paper’s authors propose “a hybrid framework that integrates federated and decentralized models to ensure the resilience, sustainability and FAIR/CARE stewardship of scientific data as a global public good.”

“A genome project is not just a sequencing project; it is a national infrastructure project — part science, part public health, part law, part ethics, part diplomacy,” said Oleksyk. “History shows that big infrastructure fails when it is built without trust, maintenance, local ownership or shared rules. Building a project like this is about the practical conditions that enable national genome projects: public understanding, political support, ethical governance, privacy law, funding, infrastructure, local scientific capacity, international collaboration and responsible data sharing.”