“We want to represent all branches of the human tree,” said Ira Hall, a geneticist who leads the Yale Center for Genomic Health.
Some of the new genomes will come from New Yorkers who previously participated in a research program at the Mount Sinai Health System. If their raw DNA data appeared to reflect certain under-represented genetic backgrounds, those individuals would be invited to participate in the pangenome project.
Some gaps in the publicly available reference may not be filled, despite the design.
Previous attempts to capture human genetic diversity have often extracted sequence data from marginalized populations without considering their needs and preferences. Building on those ethical missteps, pangenome curators are now collaborating with Indigenous groups to develop formal policies around data ownership.
“We are still grappling with the issue of indigenous and tribal sovereignty,” said Barbara Koenig, a bioethicist at the University of California, San Francisco, who was involved in the project.
In Australia, researchers are merging DNA sequences from various indigenous peoples into a similar repository that will be integrated with an open-source pangenome, but then kept behind a paywall. According to Hardip Patel of the Australian National Center for Indigenous Genomics in Canberra, the scientists next plan to consult with community leaders about whether or not to make the data available through request.