Scientists Are Finally Capturing the Genetic Diversity of Humanity

Scientists Are Finally Capturing the Genetic Diversity of Humanity

Scientists are expanding the genetic map of humanity. This week, a large team published the first wave of research from the Pangenome Project, an effort to better capture the diversity of people around the world. The findings should allow scientists to better understand the influence of genetics on our health and evolutionary journey.

This past April saw the 20th anniversary of the Human Genome Project coming to an official end. Thousands of scientists worked together to unravel and translate most of the genetic information that makes up a person. The knowledge gained from the project ushered in a new era of scientific research and has contributed to advances in genetic engineering, biology, and cancer treatment, among other things.

Even at the time, though, the project researchers knew that their work was incomplete. They had only sequenced roughly 90% of the genome (the first truly complete genome sequence was obtained in 2022). And while the genome was sourced from a composite of 11 blood donors, most of the information had come from a single donor in Buffalo, New York. In the decades since, large studies, organisations, and private companies have sequenced and analysed the genomes of millions more people. But the bulk of genomes, especially those used to conduct research, have still largely come from white, European populations — a disparity with important implications.

Though the genomes of any two people are nearly identical, there can be gene variants that are more commonly or only found in one broad population of humans. Some variants might also affect people in one population differently than others. And simply knowing about these variants and other types of differences can provide clues as to the actual function of a particular gene. Now, a large team of scientists says it’s taken a major step closer to capturing the entire breadth of genetic diversity, via the Human Pangenome Reference Consortium.

On Wednesday, the group published a paper in Nature detailing the first draft of their human pangenome reference, as well as two other studies based on studying this genome. The team’s pangenome is derived from 47 people meant to represent ancestrally diverse populations from parts of the world including South America, Africa, and Asia. Compared to the current human genome commonly used as a reference in research, the pangenome adds 119 million base pairs of genetic material and 1,115 gene duplications.

“Having a high-quality human pangenome reference that increasingly reflects the diversity of the human population will enable scientists and healthcare professionals to better understand how genomic variants influence health and disease, and move us towards a future in which genomic medicine benefits everyone,” project collaborator Eric Green, director of the National Human Genome Research Institute, said in a press conference detailing the project this week.

The research seems to be paying off already. According to the team, using the pangenome over the current reference genome increased their ability to detect structural genetic variations by 104%. In one paper, scientists used it to help them map millions of previously uncharacterized single-nucleotide variations (the most common form of genetic variation) within long segments of repetitive DNA called segmental duplications. These duplications are thought to be crucial to our evolution since they’re only commonly found in humans and other great apes compared to other mammals. But they’ve also been especially hard to sequence and analyse, so a greater understanding of their nature is sorely needed.

The Pangenome Project is still only in its beginning stages. The team ultimately plans to cobble it together from the genomes of 350 people. And from there, they and other scientists hope to use it as a way to better reveal and study variants that affect our biology and health, including those that influence our immune response or our risk of common conditions like cardiovascular disease.

At the press conference, project researcher and a geneticist at the University of Washington Evan Eichler said, “There’s a lot more left to be discovered. And I think we now have the framework to actually do that discovery.”

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