Genome sequencing as a diagnostic test

CMAJ | October 25, 2021 | Volume 193 | Issue 42 © 2021 CMA Joule Inc. or its licensors G enetic testing of patient constitutional DNA (i.e., their genome) is increasingly performed in medical prac­ tice.1–3 Sequencing an entire human genome (about 3.2 billion nucleotides) is now possible to complete in days to weeks, and at a similar cost to some advanced imaging tests or to a brief admission to hospital.3,4 Genome sequencing is being integrated into health care systems internationally, most notably in the United Kingdom.5 Starting in 2021, genome sequencing is being performed as a clinical genetic test in Ontario, Canada.

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