Decreases in the cost of DNA sequencing have enabled substantial progress in fields ranging from archaeology and evolution to basic biomedical science. Concomitantly, there have been calls for routine genome-scale sequencing of healthy individuals in hopes of discovering clinically important information. For example, discovery of a high risk of breast and ovarian cancer due to a BRCA1/2 mutation can enable aggressive surveillance or risk-reducing surgery.
Evans JP, Powell BC, Berg JS. Finding the Rare Pathogenic Variants in a Human Genome. JAMA. 2017;317(18):1904–1905. doi:10.1001/jama.2017.0432
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