Abstract
AbstractPrecision 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.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Reference47 articles.
1. Turro, E. et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583, 96–102 (2020).
2. Department of Health and Social Care. Matt Hancock announces ambition to map 5 million genomes. (2018).
3. Shotelersuk, V., Tongsima, S., Pithukpakorn, M., Eu-Ahsunthornwattana, J. & Mahasirimongkol, S. Precision medicine in Thailand. Am. J. Med. Genet. C. Semin. Med. Genet. 181, 245–253 (2019).
4. Doble, B., Schofield, D. J., Roscioli, T. & Mattick, J. S. Prioritising the application of genomic medicine. NPJ Genom. Med. 2, 35 (2017).
5. Tan, T. Y. et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr. 171, 855–862 (2017).
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