Getting diagnostic genomic laboratories — along with patients, clinicians and researchers — to share their data ethically could help to fix “the broken promise” that undermines human genome research (see Nature 590, 198–201; 2021). The promise was to make genomic data publicly accessible.
Laboratories that sequence DNA for diagnostic purposes hold information on patients’ clinical and phenotypic features alongside causal genomic findings (see A. J. Gates et al. Nature 590, 212–215; 2021). The benefits of sharing these data interpretations could extend far beyond the diagnostic context — subject to patients’ informed consent. They could create a giant resource for curated reference sequences and variants proved to be linked to disease.
The community has public repositories for data sharing, yet participation is low. Many laboratories prefer to maintain their own databases. This practice needs to change.
Now that sequencing of human genomes is routine, the number of variants of unknown significance has grown exponentially. Mostly considered neutral and non-actionable, these rare variants might still play a part in disease. Openly sharing genomic data and phenotypic details could provide insight into such unknowns.
