Whole-genome sequencing in aging research

Whole-genome sequencing (WGS) reads every letter of your DNA, in both the nuclear genome and the mitochondria. Older SNP chips miss a lot. WGS can spot rare changes: single-letter variants in coding and non-coding DNA, big structural rearrangements, and copy-number changes. In aging research it has a few main uses. It finds rare longevity-linked variants in centenarian families, like protective mutations in PCSK9, APOC3, or DNA-repair genes, that only deep sequencing catches. It counts the somatic mutations a tissue picks up over a lifetime. That includes clonal hematopoiesis of indeterminate potential (CHIP), which ties blood-cell mutations to heart and cancer risk. And it tracks shifts in mitochondrial DNA (heteroplasmy) that grow with age. The cost has collapsed, from about $3,000 per gigabase in 2008 to roughly $1 to $5 by the mid-2020s. That makes population-scale studies possible. Two hard problems remain. One is making sense of variants of uncertain significance (VUS). The other is handling incidental findings, especially as WGS enters preventive care for healthy people.

Last reviewed: June 22, 2026

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