Rare versus common diseases: a false dichotomy in precision medicine

BHY Chung, JFT Chau, GKS Wong - NPJ Genomic Medicine, 2021 - nature.com
BHY Chung, JFT Chau, GKS Wong
NPJ Genomic Medicine, 2021nature.com
Precision medicine initiatives are being launched worldwide, each with the capacity to
sequence many thousands to millions of human genomes. At the strategic planning level, all
are debating the extent to which these resources will be directed towards rare diseases (and
cancers) versus common diseases. However, these are not mutually exclusive choices. The
organizational and governmental infrastructure created for rare diseases is extensible to
common diseases. As we will explain, the underlying technology can also be used to identify …
Abstract
Precision medicine initiatives are being launched worldwide, each with the capacity to sequence many thousands to millions of human genomes. At the strategic planning level, all are debating the extent to which these resources will be directed towards rare diseases (and cancers) versus common diseases. However, these are not mutually exclusive choices. The organizational and governmental infrastructure created for rare diseases is extensible to common diseases. As we will explain, the underlying technology can also be used to identify drug targets for common diseases with a strategy focused on naturally occurring human knockouts. This flips on its head the prevailing modus operandi of studying people with diseases of interest, shifting the onus to defining traits worth emulating by pharmaceuticals, and searching phenotypically for people with these traits. This also shifts the question of what is rare or common from the many underlying causes to the possibility of a common final pathway.
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