More than 20 years after scientists first published the draft sequence of the human genome, the book of life has been rewritten overdue.
A more accurate and inclusive version of our genome was released Wednesday, marking a major step toward a deeper understanding of human biology and personalized medicine.
Unlike the previous reference — which was based mostly on DNA from a mixed breed of buffalo, with entries from a few dozen individuals, mostly of European descent — the new “pangenome” includes nearly complete genome sequences from 47 men and includes African Americans, Caribbean Islanders, East Asians, West Africans and South Africans. Women of various origins, including Americans.
The updated genetic map represents an important tool for scientists and clinicians hoping to identify genetic variants associated with disease. It also promises to provide treatments that benefit all people, regardless of race, ethnicity or ethnicity, the researchers said.
“It’s been needed for a long time — they’ve done a good job,” said Ivan Birney, a geneticist and deputy director general of the European Molecular Biology Laboratory, who was not involved in the effort. “This will improve our microscopic understanding of variation, and that research will then open up new opportunities for clinical applications.”
Powered by the latest in DNA sequencing technology, Panganome combines all 47 unique genes into a single source, providing the most comprehensive picture of the code that drives our cells. The gaps in the previous reference have now been filled in, with nearly 120 million previously missing DNA letters added to the three-billion-letter-long code.
Gone is the idea of a totemic strand of DNA six feet long when uncoiled and stretched in a straight line. Now, the restarted reference resembles a corn maze, with alternate paths and side trails, allowing scientists to explore the vast amount of genetic diversity found among populations around the world.
Dr. Eric Green, director of the National Human Genome Research Institute, the government agency that funded the work, compares Panganom to a new kind of bodywork manual for auto repair shops. Earlier, each mechanic only had one type of car design details, now there is a master plan covering different makes and models.
“We went from one good blueprint of Chevy to now having blueprints of 47 representative cars from 47 different manufacturers,” he said.
Knowing what to do with this Kelly Blue Book of Genomics can involve a steep learning curve. New analytical tools are needed. Coordinating systems must be redefined. Widespread adoption will take time.
“There’s work to be done to make it easier for the community to use,” said Heidi Rehm, chief genetics officer at Massachusetts General Hospital in Boston, who was not involved in the project.
But experts said that in time, the pengenome could revolutionize the field of genomic medicine.
“We’re really going to reap the benefits of understanding ourselves as a species,” said Evan Eichler, a geneticist at the University of Washington. Dr. Eichler is one of more than 100 scientists and biologists described a new pangenome reference In the journal Nature.
The project’s architects continue to add more population groups, with the goal of adding at least 350 high-quality genes that cover much of global human diversity.
“We want to represent all branches of the human tree,” said Ira Hall, a geneticist who directs the Yale Center for Genomic Health.
Some of the new genes will come from New Yorkers who previously participated in a research project at Mount Sinai Health System. If their preliminary DNA data appears to reflect some underrepresented genetic background, those individuals are invited to participate in the pangenome project.
Some spaces are never inserted into publicly available notation, however – by design.
Previous efforts to capture human genetic diversity have often extracted sequence data from marginalized populations without regard to their needs and preferences. Aware of those ethical missteps, pangenome coordinators are now collaborating with tribal groups to develop formal policies around data ownership.
“We’re still struggling with the issue of native and tribal sovereignty,” said Barbara Koenig, a biologist at the University of California, San Francisco who was involved in the project.
In Australia, researchers are combining DNA sequences from various Aboriginal peoples into a single repository that will be linked to the open-source pangenome, but then kept behind a firewall. According to Hardeep Patel of Australia’s National Genetics Center in Canberra, the scientists next plan to consult with community leaders about whether or how to access the data by request.
Some tribal advocates want the pangenome project to go further. Keolu Fox, a geneticist at the University of California, San Diego and a Native Hawaiian, recommends training the next generation of Native scientists to gain more agency over genetic data.
“The time has finally come for us to decentralize power, control it and redistribute it between communities,” Dr Fox said.
